entry created 1992-12-01 dataset Swiss-Prot modified 2023-02-22 version 225 accession P28360 accession A0SZU5 accession A8K3M1 accession Q96NY4 name MSX1_HUMAN protein recommendedName fullName Homeobox-protein-MSX-1 alternativeName fullName Homeobox-protein-Hox-7 alternativeName fullName Msh-homeobox-1-like-protein gene name type primary MSX1 name type synonym HOX7 organism name type scientific Homo-sapiens name type common Human dbReference id 9606 type NCBI-Taxonomy lineage taxon Eukaryota taxon Metazoa taxon Chordata taxon Craniata taxon Vertebrata taxon Euteleostomi taxon Mammalia taxon Eutheria taxon Euarchontoglires taxon Primates taxon Haplorrhini taxon Catarrhini taxon Hominidae taxon Homo reference key 1 citation date 1991 first 670 last 678 name Genomics type journal-article volume 11 title Structure-and-sequence-of-the-human-homeobox-gene-HOX7. authorList person name Hewitt-J.E. person name Clarke-L.E. person name Iven-A. person name Williamson-R. dbReference id 1685479 type PubMed dbReference id 10.1016/0888-7543(91)90074-o type DOI scope NUCLEOTIDE-SEQUENCE-[GENOMIC-DNA] source tissue Lymphocyte reference key 2 citation date 1992 first 407 last 410 name Hum.-Mol.-Genet. type journal-article volume 1 title Characterization-of-the-human-HOX-7-cDNA-and-identification-of-polymorphic-markers. authorList person name Padanilam-B.J. person name Stadler-S.H. person name Mills-K.A. person name McLeod-L.B. person name Solursh-M. person name Lee-B.M. person name Ramirez-F. person name Buetow-K.H. person name Murray-J.C. dbReference id 1284527 type PubMed dbReference id 10.1093/hmg/1.6.407 type DOI scope NUCLEOTIDE-SEQUENCE-[MRNA] source tissue Ectomesenchyme reference key 3 citation date 2003 first 399 last 407 name J.-Med.-Genet. type journal-article volume 40 title Complete-sequencing-shows-a-role-for-MSX1-in-non-syndromic-cleft-lip-and-palate. authorList person name Jezewski-P.A. person name Vieira-A.R. person name Nishimura-C. person name Ludwig-B. person name Johnson-M. person name O'Brien-S.E. person name Daack-Hirsch-S. person name Schultz-R.E. person name Weber-A. person name Nepomucena-B. person name Romitti-P.A. person name Christensen-K. person name Orioli-I.M. person name Castilla-E.E. person name Machida-J. person name Natsume-N. person name Murray-J.C. dbReference id 12807959 type PubMed dbReference id 10.1136/jmg.40.6.399 type DOI scope NUCLEOTIDE-SEQUENCE-[GENOMIC-DNA] scope FUNCTION scope VARIANTS-OFC5-VAL-84;-ASP-97;-GLY-120;-GLU-122-AND-SER-157 reference key 4 citation date 2004 first 40 last 45 name Nat.-Genet. type journal-article volume 36 title Complete-sequencing-and-characterization-of-21,243-full-length-human-cDNAs. authorList person name Ota-T. person name Suzuki-Y. person name Nishikawa-T. person name Otsuki-T. person name Sugiyama-T. person name Irie-R. person name Wakamatsu-A. person name Hayashi-K. person name Sato-H. person name Nagai-K. person name Kimura-K. person name Makita-H. person name Sekine-M. person name 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Nakagawa-K. person name Okumura-K. person name Nagase-T. person name Nomura-N. person name Kikuchi-H. person name Masuho-Y. person name Yamashita-R. person name Nakai-K. person name Yada-T. person name Nakamura-Y. person name Ohara-O. person name Isogai-T. person name Sugano-S. dbReference id 14702039 type PubMed dbReference id 10.1038/ng1285 type DOI scope NUCLEOTIDE-SEQUENCE-[LARGE-SCALE-MRNA] scope VARIANT-SER-157 source tissue Embryo reference key 5 citation date 2005 first 724 last 731 name Nature type journal-article volume 434 title Generation-and-annotation-of-the-DNA-sequences-of-human-chromosomes-2-and-4. authorList person name Hillier-L.W. person name Graves-T.A. person name Fulton-R.S. person name Fulton-L.A. person name Pepin-K.H. person name Minx-P. person name Wagner-McPherson-C. person name Layman-D. person name Wylie-K. person name Sekhon-M. person name Becker-M.C. person name Fewell-G.A. person name Delehaunty-K.D. person name Miner-T.L. person name Nash-W.E. person 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NUCLEOTIDE-SEQUENCE-[LARGE-SCALE-MRNA] source tissue Neuroblastoma tissue Pancreatic-carcinoma reference key 7 citation date 2006-10 db EMBL/GenBank/DDBJ-databases type submission title Single-nucleotide-polymorphism-analysis-of-the-MSX1-gene-within-Indian-population-for-cleft-lip-and-palate. authorList person name Prasad-S. person name Shama-Rao-K. person name Mukhyopadhyay-A. scope NUCLEOTIDE-SEQUENCE-[GENOMIC-DNA]-OF-1-156 reference key 8 citation date 1990 first 473 last 476 name Hum.-Genet. type journal-article volume 84 title The-human-homeobox-gene-HOX7-maps-to-chromosome-4p16.1-and-may-be-implicated-in-Wolf-Hirschhorn-syndrome. authorList person name Ivens-A. person name Flavin-N. person name Williamson-R. person name Dixon-M. person name Bates-G. person name Buckingham-M. person name Robert-B. dbReference id 1969845 type PubMed dbReference id 10.1007/bf00195823 type DOI scope NUCLEOTIDE-SEQUENCE-[GENOMIC-DNA]-OF-191-251 scope INVOLVEMENT-IN-WOLF-HIRSCHHORN-SYNDROME reference key 9 citation date 2001 first 67 last 74 name Am.-J.-Hum.-Genet. type journal-article volume 69 title A-nonsense-mutation-in-MSX1-causes-Witkop-syndrome. authorList person name Jumlongras-D. person name Bei-M. person name Stimson-J.M. person name Wang-W.-F. person name DePalma-S.R. person name Seidman-C.E. person name Felbor-U. person name Maas-R. person name Seidman-J.G. person name Olsen-B.R. dbReference id 11369996 type PubMed dbReference id 10.1086/321271 type DOI scope FUNCTION scope TISSUE-SPECIFICITY scope INVOLVEMENT-IN-ECTD3 reference key 10 citation date 1996 first 417 last 421 name Nat.-Genet. type journal-article volume 13 title A-human-MSX1-homeodomain-missense-mutation-causes-selective-tooth-agenesis. authorList person name Vastardis-H. person name Karimbux-N. person name Guthua-S.W. person name Seidman-J.G. person name Seidman-C.E. dbReference id 8696335 type PubMed dbReference id 10.1038/ng0896-417 type DOI scope VARIANT-STHAG1-PRO-202 reference key 11 citation date 2002 first 274 last 278 name J.-Dent.-Res. type journal-article volume 81 title The-role-of-MSX1-in-human-tooth-agenesis. authorList person name Lidral-A.C. person name Reising-B.C. dbReference id 12097313 type PubMed dbReference id 10.1177/154405910208100410 type DOI scope VARIANT-STHAG1-LYS-67 comment type function text evidence 4-6 Acts-as-a-transcriptional-repressor.-May-play-a-role-in-limb-pattern-formation.-Acts-in-cranofacial-development-and-specifically-in-odontogenesis.-Expression-in-the-developing-nail-bed-mesenchyme-is-important-for-nail-plate-thickness-and-integrity. comment type interaction interactant intactId EBI-3919342 id P28360 interactant intactId EBI-740343 id Q93062-3 label RBPMS organismsDiffer false experiments 3 comment type subcellular-location subcellularLocation location Nucleus comment type tissue-specificity text evidence 4 Expressed-in-the-developing-nail-bed-mesenchyme. comment type PTM text evidence 1 Sumoylated-by-PIAS1,-desumoylated-by-SENP1. comment evidence 5-8 type disease disease id DI-01211 name Tooth-agenesis,-selective,-1 acronym STHAG1 description A-form-of-selective-tooth-agenesis,-a-common-anomaly-characterized-by-the-congenital-absence-of-one-or-more-teeth.-Selective-tooth-agenesis-without-associated-systemic-disorders-has-sometimes-been-divided-into-2-types:-oligodontia,-defined-as-agenesis-of-6-or-more-permanent-teeth,-and-hypodontia,-defined-as-agenesis-of-less-than-6-teeth.-The-number-in-both-cases-does-not-include-absence-of-third-molars-(wisdom-teeth).-STHAG1-can-be-associated-with-orofacial-cleft-in-some-patients. dbReference id 106600 type MIM text The-disease-is-caused-by-variants-affecting-the-gene-represented-in-this-entry. comment type disease text evidence 10 MSX1-is-deleted-in-some-patients-with-Wolf-Hirschhorn-syndrome-(WHS).-WHS-results-from-sub-telomeric-deletions-in-the-short-arm-of-chromosome-4. comment evidence 4 type disease disease id DI-01148 name Ectodermal-dysplasia-3,-Witkop-type acronym ECTD3 description A-form-of-ectodermal-dysplasia,-a-heterogeneous-group-of-disorders-due-to-abnormal-development-of-two-or-more-ectodermal-structures-such-as-hair,-teeth,-nails-and-sweat-glands,-with-or-without-any-additional-clinical-sign.-Each-combination-of-clinical-features-represents-a-different-type-of-ectodermal-dysplasia.-ECTD3-is-characterized-by-abnormalities-largely-limited-largely-to-teeth-(some-of-which-are-missing)-and-nails-(which-are-poorly-formed-early-in-life,-especially-toenails).-This-condition-is-distinguished-from-anhidrotic-ectodermal-dysplasia-by-autosomal-dominant-inheritance-and-little-involvement-of-hair-and-sweat-glands.-The-teeth-are-not-as-severely-affected. dbReference id 189500 type MIM text The-disease-is-caused-by-variants-affecting-the-gene-represented-in-this-entry. comment evidence 6 type disease disease id DI-00826 name Non-syndromic-orofacial-cleft-5 acronym OFC5 description A-birth-defect-consisting-of-cleft-lips-with-or-without-cleft-palate.-Cleft-lips-are-associated-with-cleft-palate-in-two-third-of-cases.-A-cleft-lip-can-occur-on-one-or-both-sides-and-range-in-severity-from-a-simple-notch-in-the-upper-lip-to-a-complete-opening-in-the-lip-extending-into-the-floor-of-the-nostril-and-involving-the-upper-gum. dbReference id 608874 type MIM text The-disease-is-caused-by-variants-affecting-the-gene-represented-in-this-entry. comment type similarity text evidence 9 Belongs-to-the-Msh-homeobox-family. comment type caution text evidence 9 It-is-uncertain-whether-Met-1-or-Met-7-is-the-initiator. comment evidence 9 type sequence-caution conflict type erroneous-initiation sequence id AAA52683 resource EMBL-CDS version 1 text Truncated-N-terminus. comment evidence 9 type sequence-caution conflict type erroneous-initiation sequence id AAA58665 resource EMBL-CDS version 1 text Truncated-N-terminus. comment evidence 9 type sequence-caution conflict type erroneous-initiation sequence id AAH67353 resource EMBL-CDS version 1 text Truncated-N-terminus. comment evidence 9 type sequence-caution conflict type erroneous-initiation sequence id AAL17870 resource EMBL-CDS version 1 text Truncated-N-terminus. comment evidence 9 type sequence-caution conflict type erroneous-initiation sequence id ABK81117 resource EMBL-CDS version 1 text Truncated-N-terminus. comment evidence 9 type sequence-caution conflict type erroneous-initiation sequence id BAF83325 resource EMBL-CDS version 1 text Truncated-N-terminus. dbReference id M76732 type EMBL property type protein-sequence-ID value AAA58665.1 property type status value ALT_INIT property type molecule-type value Genomic_DNA dbReference id M76731 type EMBL property type protein-sequence-ID value AAA58665.1 property type status value JOINED property type molecule-type value Genomic_DNA dbReference id M97676 type EMBL property type protein-sequence-ID value AAA52683.1 property type status value ALT_INIT property type molecule-type value mRNA dbReference id AF426432 type EMBL property type protein-sequence-ID value AAL17870.1 property type status value ALT_INIT property type molecule-type value Genomic_DNA dbReference id AK290636 type EMBL property type protein-sequence-ID value BAF83325.1 property type status value ALT_INIT property type molecule-type value mRNA dbReference id AC092437 type EMBL property type status value NOT_ANNOTATED_CDS property type molecule-type value Genomic_DNA dbReference id BC021285 type EMBL property type protein-sequence-ID value AAH21285.4 property type molecule-type value mRNA dbReference id BC067353 type EMBL property type protein-sequence-ID value AAH67353.1 property type status value ALT_INIT property type molecule-type value mRNA dbReference id EF065625 type EMBL property type protein-sequence-ID value ABK81117.1 property type status value ALT_INIT property type molecule-type value Genomic_DNA dbReference id CCDS3378.2 type CCDS dbReference id A40560 type PIR property type entry-name value A40560 dbReference id I54320 type PIR property type entry-name value I54320 dbReference id NP_002439.2 type RefSeq property type nucleotide-sequence-ID value NM_002448.3 dbReference id P28360 type AlphaFoldDB dbReference id P28360 type SMR dbReference id 110593 type BioGRID property type interactions value 18 dbReference id P28360 type CORUM dbReference id P28360 type IntAct property type interactions value 7 dbReference id P28360 type MINT dbReference id 9606.ENSP00000372170 type STRING dbReference id P28360 type iPTMnet dbReference id P28360 type PhosphoSitePlus dbReference id MSX1 type BioMuta dbReference id 557952603 type DMDM dbReference id P28360 type jPOST dbReference id P28360 type MassIVE dbReference id P28360 type MaxQB dbReference id P28360 type PaxDb dbReference id P28360 type PeptideAtlas dbReference id 54482 type ProteomicsDB dbReference id 9270 type Antibodypedia property type antibodies value 404-antibodies-from-41-providers dbReference id 4487 type DNASU dbReference id ENST00000382723.5 type Ensembl property type protein-sequence-ID value ENSP00000372170.4 property type gene-ID value ENSG00000163132.8 dbReference id 4487 type GeneID dbReference id hsa:4487 type KEGG dbReference id ENST00000382723.5 type MANE-Select property type protein-sequence-ID value ENSP00000372170.4 property type RefSeq-nucleotide-sequence-ID value NM_002448.3 property type RefSeq-protein-sequence-ID value NP_002439.2 dbReference id uc003gif.4 type UCSC property type organism-name value human dbReference id HGNC:7391 type AGR dbReference id 4487 type CTD dbReference id 4487 type DisGeNET dbReference id MSX1 type GeneCards dbReference id HGNC:7391 type HGNC property type gene-designation value MSX1 dbReference id ENSG00000163132 type HPA property type expression-patterns value Tissue-enhanced-(cervix,-choroid-plexus) dbReference id MSX1 type MalaCards dbReference id 106600 type MIM property type type value phenotype dbReference id 142983 type MIM property type type value gene dbReference id 189500 type MIM property type type value phenotype dbReference id 608874 type MIM property type type value phenotype dbReference id NX_P28360 type neXtProt dbReference id ENSG00000163132 type OpenTargets dbReference id 141291 type Orphanet property type disease value Cleft-lip-and-alveolus dbReference id 199306 type Orphanet property type disease value Cleft-lip/palate dbReference id 2228 type Orphanet property type disease value Hypodontia-dysplasia-of-nails-syndrome dbReference id 199302 type Orphanet property type disease value Isolated-cleft-lip dbReference id 2227 type Orphanet property type disease value NON-RARE-IN-EUROPE:-Hypodontia dbReference id 99798 type Orphanet property type disease value Oligodontia dbReference id PA31196 type PharmGKB dbReference id HostDB:ENSG00000163132 type VEuPathDB dbReference id KOG0492 type eggNOG property type taxonomic-scope value Eukaryota dbReference id ENSGT00940000161623 type GeneTree dbReference id CLU_072675_1_0_1 type HOGENOM dbReference id P28360 type InParanoid dbReference id MQTPRFS type OMA dbReference id 4848801at2759 type OrthoDB dbReference id P28360 type PhylomeDB dbReference id TF350699 type TreeFam dbReference id P28360 type PathwayCommons dbReference id P28360 type SignaLink dbReference id P28360 type SIGNOR dbReference id 4487 type BioGRID-ORCS property type hits value 13-hits-in-1182-CRISPR-screens dbReference id MSX1 type ChiTaRS property type organism-name value human dbReference id MSX1 type GeneWiki dbReference id 4487 type GenomeRNAi dbReference id P28360 type Pharos property type development-level value Tbio dbReference id PR:P28360 type PRO dbReference id UP000005640 type Proteomes property type component value Chromosome-4 dbReference id P28360 type RNAct property type molecule-type value protein dbReference id ENSG00000163132 type Bgee property type expression-patterns value Expressed-in-buccal-mucosa-cell-and-160-other-tissues dbReference id P28360 type Genevisible property type organism-ID value HS dbReference id GO:0000785 type GO property type term value C:chromatin property type evidence value ECO:0000247 property type project value NTNU_SB dbReference id GO:0005654 type GO property type term value C:nucleoplasm property type evidence value ECO:0000314 property type project value HPA dbReference id GO:0005634 type GO property type term value C:nucleus property type evidence value ECO:0000314 property type project value BHF-UCL dbReference id GO:0005667 type GO property type term value C:transcription-regulator-complex property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0000987 type GO property type term value F:cis-regulatory-region-sequence-specific-DNA-binding property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0001228 type GO property type term value F:DNA-binding-transcription-activator-activity,-RNA-polymerase-II-specific property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0000981 type GO property type term value F:DNA-binding-transcription-factor-activity,-RNA-polymerase-II-specific property type evidence value ECO:0000247 property type project value NTNU_SB dbReference id GO:0001227 type GO property type term value F:DNA-binding-transcription-repressor-activity,-RNA-polymerase-II-specific property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0002039 type GO property type term value F:p53-binding property type evidence value ECO:0000353 property type project value BHF-UCL dbReference id GO:0000977 type GO property type term value F:RNA-polymerase-II-transcription-regulatory-region-sequence-specific-DNA-binding property type evidence value ECO:0000318 property type project value GO_Central dbReference id GO:1990837 type GO property type term value F:sequence-specific-double-stranded-DNA-binding property type evidence value ECO:0000314 property type project value ARUK-UCL dbReference id GO:0090427 type GO property type term value P:activation-of-meiosis property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0009952 type GO property type term value P:anterior/posterior-pattern-specification property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0061312 type GO property type term value P:BMP-signaling-pathway-involved-in-heart-development property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0060349 type GO property type term value P:bone-morphogenesis property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0003161 type GO property type term value P:cardiac-conduction-system-development property type evidence value ECO:0000303 property type project value BHF-UCL dbReference id GO:0060536 type GO property type term value P:cartilage-morphogenesis property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0000902 type GO property type term value P:cell-morphogenesis property type evidence value ECO:0000314 property type project value BHF-UCL dbReference id GO:0035115 type GO property type term value P:embryonic-forelimb-morphogenesis property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0035116 type GO property type term value P:embryonic-hindlimb-morphogenesis property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0048598 type GO property type term value P:embryonic-morphogenesis property type evidence value ECO:0000318 property type project value GO_Central dbReference id GO:0035880 type GO property type term value P:embryonic-nail-plate-morphogenesis property type evidence value ECO:0000315 property type project value BHF-UCL dbReference id GO:0003198 type GO property type term value P:epithelial-to-mesenchymal-transition-involved-in-endocardial-cushion-formation property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0060325 type GO property type term value P:face-morphogenesis property type evidence value ECO:0000315 property type project value BHF-UCL dbReference id GO:0030900 type GO property type term value P:forebrain-development property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0001701 type GO property type term value P:in-utero-embryonic-development property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0061180 type GO property type term value P:mammary-gland-epithelium-development property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0097152 type GO property type term value P:mesenchymal-cell-apoptotic-process property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0010463 type GO property type term value P:mesenchymal-cell-proliferation property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0030901 type GO property type term value P:midbrain-development property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0042474 type GO property type term value P:middle-ear-morphogenesis property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0007517 type GO property type term value P:muscle-organ-development property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0043066 type GO property type term value P:negative-regulation-of-apoptotic-process property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0030308 type GO property type term value P:negative-regulation-of-cell-growth property type evidence value ECO:0000314 property type project value BHF-UCL dbReference id GO:0008285 type GO property type term value P:negative-regulation-of-cell-population-proliferation property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0051154 type GO property type term value P:negative-regulation-of-striated-muscle-cell-differentiation property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:2000678 type GO property type term value P:negative-regulation-of-transcription-regulatory-region-DNA-binding property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0042475 type GO property type term value P:odontogenesis-of-dentin-containing-tooth property type evidence value ECO:0000315 property type project value BHF-UCL dbReference id GO:0030513 type GO property type term value P:positive-regulation-of-BMP-signaling-pathway property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0043517 type GO property type term value P:positive-regulation-of-DNA-damage-response,-signal-transduction-by-p53-class-mediator property type evidence value ECO:0000305 property type project value BHF-UCL dbReference id GO:1902255 type GO property type term value P:positive-regulation-of-intrinsic-apoptotic-signaling-pathway-by-p53-class-mediator property type evidence value ECO:0000314 property type project value BHF-UCL dbReference id GO:2001055 type GO property type term value P:positive-regulation-of-mesenchymal-cell-apoptotic-process property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0034504 type GO property type term value P:protein-localization-to-nucleus property type evidence value ECO:0000314 property type project value BHF-UCL dbReference id GO:0050821 type GO property type term value P:protein-stabilization property type evidence value ECO:0000314 property type project value BHF-UCL dbReference id GO:0042481 type GO property type term value P:regulation-of-odontogenesis property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0006357 type GO property type term value P:regulation-of-transcription-by-RNA-polymerase-II property type evidence value ECO:0000318 property type project value GO_Central dbReference id GO:0060021 type GO property type term value P:roof-of-mouth-development property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0023019 type GO property type term value P:signal-transduction-involved-in-regulation-of-gene-expression property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0048863 type GO property type term value P:stem-cell-differentiation property type evidence value ECO:0007669 property type project value Ensembl dbReference id GO:0006366 type GO property type term value P:transcription-by-RNA-polymerase-II property type evidence value ECO:0007669 property type project value Ensembl dbReference id cd00086 type CDD property type entry-name value homeodomain property type match-status value 1 dbReference id 1.10.10.60 type Gene3D property type entry-name value Homeodomain-like property type match-status value 1 dbReference id IPR009057 type InterPro property type entry-name value Homeobox-like_sf dbReference id IPR017970 type InterPro property type entry-name value Homeobox_CS dbReference id IPR001356 type InterPro property type entry-name value Homeobox_dom dbReference id IPR020479 type InterPro property type entry-name value Homeobox_metazoa dbReference id PTHR24338 type PANTHER property type entry-name value HOMEOBOX-PROTEIN-MSX property type match-status value 1 dbReference id PTHR24338:SF8 type PANTHER property type entry-name value HOMEOBOX-PROTEIN-MSX-1 property type match-status value 1 dbReference id PF00046 type Pfam property type entry-name value Homeodomain property type match-status value 1 dbReference id PR00024 type PRINTS property type entry-name value HOMEOBOX dbReference id SM00389 type SMART property type entry-name value HOX property type match-status value 1 dbReference id SSF46689 type SUPFAM property type entry-name value Homeodomain-like property type match-status value 1 dbReference id PS00027 type PROSITE property type entry-name value HOMEOBOX_1 property type match-status value 1 dbReference id PS50071 type PROSITE property type entry-name value HOMEOBOX_2 property type match-status value 1 proteinExistence type evidence-at-protein-level keyword id KW-0217 Developmental-protein keyword id KW-0225 Disease-variant keyword id KW-0238 DNA-binding keyword id KW-0038 Ectodermal-dysplasia keyword id KW-0371 Homeobox keyword id KW-1017 Isopeptide-bond keyword id KW-0539 Nucleus keyword id KW-1185 Reference-proteome keyword id KW-0678 Repressor keyword id KW-0804 Transcription keyword id KW-0805 Transcription-regulation keyword id KW-0832 Ubl-conjugation feature description Homeobox-protein-MSX-1 id PRO_0000049086 type chain location begin position 1 end position 303 feature description Homeobox evidence 2 type DNA-binding-region location begin position 172 end position 231 feature description Disordered evidence 3 type region-of-interest location begin position 18 end position 55 feature description Disordered evidence 3 type region-of-interest location begin position 69 end position 117 feature description Disordered evidence 3 type region-of-interest location begin position 133 end position 174 feature description Glycyl-lysine-isopeptide-(Lys-Gly)-(interchain-with-G-Cter-in-SUMO) evidence 1 type cross-link location position position 15 feature description Glycyl-lysine-isopeptide-(Lys-Gly)-(interchain-with-G-Cter-in-SUMO) evidence 1 type cross-link location position position 133 feature description In-STHAG1;-dbSNP:rs121913130. evidence 5 id VAR_015712 type sequence-variant original M variation K location position position 67 feature description In-OFC5;-cleft-palate-only;-dbSNP:rs28928890. evidence 6 id VAR_018391 type sequence-variant original E variation V location position position 84 feature description In-OFC5;-cleft-palate-only. evidence 6 id VAR_018392 type sequence-variant original G variation D location position position 97 feature description In-OFC5;-cleft-palate-only;-dbSNP:rs759548721. evidence 6 id VAR_018393 type sequence-variant original V variation G location position position 120 feature description In-OFC5;-bilateral-cleft-palate;-dbSNP:rs28933081. evidence 6 id VAR_018394 type sequence-variant original G variation E location position position 122 feature description In-OFC5;-unilateral-cleft-palate;-dbSNP:rs150284621. evidence 6-7 id VAR_018395 type sequence-variant original R variation S location position position 157 feature description In-STHAG1;-dbSNP:rs121913129. evidence 8 id VAR_003754 type sequence-variant original R variation P location position position 202 feature description In-Ref.-4;-BAF83325. evidence 9 ref 4 type sequence-conflict original G variation D location position position 28 feature description In-Ref.-2;-AAA58665. evidence 9 ref 2 type sequence-conflict original A variation T location position position 45 feature description In-Ref.-2;-AAA58665. evidence 9 ref 2 type sequence-conflict original GVP variation ASR location begin position 97 end position 99 feature description In-Ref.-4;-BAF83325. evidence 9 ref 4 type sequence-conflict original M variation T location position position 146 feature description In-Ref.-4;-BAF83325. evidence 9 ref 4 type sequence-conflict original N variation S location position position 222 evidence key 1 type ECO:0000250 evidence key 2 type ECO:0000255 source dbReference id PRU00108 type PROSITE-ProRule evidence key 3 type ECO:0000256 source dbReference id MobiDB-lite type SAM evidence key 4 type ECO:0000269 source dbReference id 11369996 type PubMed evidence key 5 type ECO:0000269 source dbReference id 12097313 type PubMed evidence key 6 type ECO:0000269 source dbReference id 12807959 type PubMed evidence key 7 type ECO:0000269 source dbReference id 14702039 type PubMed evidence key 8 type ECO:0000269 source dbReference id 8696335 type PubMed evidence key 9 type ECO:0000305 evidence key 10 type ECO:0000305 source dbReference id 1969845 type PubMed sequence checksum 1B5F01B35920E64F length 303 mass 31496 modified 2013-11-13 version 3 MAPAADMTSLPLGVKVEDSAFGKPAGGGAGQAPSAAAATAAAMGADEEGAKPKVSPSLLPFSVEALMADHRKPGAKESALAPSEGVQAAGGSAQPLGVPPGSLGAPDAPSSPRPLGHFSVGGLLKLPEDALVKAESPEKPERTPWMQSPRFSPPPARRLSPPACTLRKHKTNRKPRTPFTTAQLLALERKFRQKQYLSIAERAEFSSSLSLTETQVKIWFQNRRAKAKRLQEAELEKLKMAAKPMLPPAAFGLSFPLGGPAAVAAAAGASLYGASGPFQRAALPVAPVGLYTAHVGYSMYHLT 
entry created 1995-11-01 dataset Swiss-Prot modified 2023-02-22 version 192 accession P43601 accession D6VTQ1 name ATG18_YEAST protein recommendedName fullName evidence 28 Autophagy-related-protein-18 alternativeName fullName evidence 27 Cytoplasm-to-vacuole-targeting-protein-18 alternativeName fullName evidence 25 Needed-for-premeiotic-replication-protein-1 alternativeName fullName evidence 29 Swollen-vacuole-phenotype-protein-1 gene name evidence 28 type primary ATG18 name evidence 26 type synonym AUT10 name evidence 27 type synonym CVT18 name evidence 25 type synonym NMR1 name evidence 29 type synonym SVP1 name evidence 32 type ordered-locus YFR021W organism name type scientific Saccharomyces-cerevisiae-(strain-ATCC-204508-/-S288c) name type common Baker's-yeast dbReference id 559292 type NCBI-Taxonomy lineage taxon Eukaryota taxon Fungi taxon Dikarya taxon Ascomycota taxon Saccharomycotina taxon Saccharomycetes taxon Saccharomycetales taxon Saccharomycetaceae taxon Saccharomyces 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PubMed dbReference id 10.4161/auto.28971 type DOI scope FUNCTION scope INTERACTION-WITH-ATG9 reference key 30 citation date 2014 first 471 last 483 name Mol.-Cell type journal-article volume 53 title Early-steps-in-autophagy-depend-on-direct-phosphorylation-of-Atg9-by-the-Atg1-kinase. authorList person name Papinski-D. person name Schuschnig-M. person name Reiter-W. person name Wilhelm-L. person name Barnes-C.A. person name Maiolica-A. person name Hansmann-I. person name Pfaffenwimmer-T. person name Kijanska-M. person name Stoffel-I. person name Lee-S.S. person name Brezovich-A. person name Lou-J.H. person name Turk-B.E. person name Aebersold-R. person name Ammerer-G. person name Peter-M. person name Kraft-C. dbReference id 24440502 type PubMed dbReference id 10.1016/j.molcel.2013.12.011 type DOI scope INTERACTION-WITH-ATG9 comment type function text evidence 2-3-4-5-7-9-10-11-12-14-15-17-18-19-20-22-24 The-PI(3,5)P2-regulatory-complex-regulates-both-the-synthesis-and-turnover-of-phosphatidylinositol-3,5-bisphosphate-(PtdIns(3,5)P2).-May-negatively-regulate-FAB1-activity-by-sequestering-or-masking-VAC7-from-FAB1.-Necessary-for-proper-vacuole-morphology.-Plays-an-important-role-in-osmotically-induced-vacuole-fragmentation.-Required-for-cytoplasm-to-vacuole-transport-(Cvt)-vesicle-formation,-pexophagy-and-starvation-induced-autophagy.-Involved-in-correct-ATG9-trafficking-to-the-pre-autophagosomal-structure.-Might-also-be-involved-in-premeiotic-DNA-replication.-With-ATG2,-protects-ATG8-from-ATG4-mediated-cleavage. comment type subunit text evidence 7-8-9-12-14-16-17-23-24 Component-of-the-PI(3,5)P2-regulatory-complex,-composed-of-ATG18,-FIG4,-FAB1,-VAC14-and-VAC7.-VAC14-nucleates-the-assembly-of-the-complex-and-serves-as-a-scaffold.-Interacts-with-ATG2,-ATG9-and-VAC17.-The-ATG2-ATG18-complex-is-essential-for-autophagosome-formation. comment type interaction interactant intactId EBI-22968 id P43601 interactant intactId EBI-29212 id P53855 label ATG2 organismsDiffer false experiments 5 comment type interaction interactant intactId EBI-22968 id P43601 interactant intactId EBI-27189 id Q06708 label VAC14 organismsDiffer false experiments 5 comment type subcellular-location subcellularLocation location evidence 7-11-13-14-16 Preautophagosomal-structure-membrane topology evidence 7-11-13-14-16 Peripheral-membrane-protein subcellularLocation location evidence 8-9-11-12-13-17 Vacuole-membrane topology evidence 8-9-11-12-13-17 Peripheral-membrane-protein subcellularLocation location evidence 15 Endosome-membrane topology evidence 15 Peripheral-membrane-protein text evidence 12 Requires-VAC7-for-vacuole-membrane-localization.-Under-mid-log-phase-growth,-localizes-to-the-vacuolar-membrane;-but-when-cells-are-starved,-is-almost-completely-released-from-the-vacuole-membrane. comment type domain text evidence 21 The-377-first-amino-acids-might-form-a-beta-propeller-domain-involved-in-specific-binding-to-phosphatidylinositol-3,5-bisphosphate-(PIP2),-leading-to-the-association-of-the-protein-to-the-membrane.-Association-to-the-membrane-can-also-occur-through-binding-to-phosphatidylinositol-3-monophosphate-(PI3P). comment type domain text evidence 11 The-L/FRRG-motif-is-essential-for-the-cytoplasm-to-vacuole-transport-(Cvt)-pathway,-for-the-recruitment-of-ATG8-and-ATG16-to-the-PAS-in-nutrient-rich-medium,-and-for-its-recruitment-to-and-dissociation-from-the-PAS-under-starvation-conditions. comment type miscellaneous text evidence 6 Present-with-1560-molecules/cell-in-log-phase-SD-medium. comment type similarity text evidence 31 Belongs-to-the-WD-repeat-PROPPIN-family. dbReference id D50617 type EMBL property type protein-sequence-ID value BAA09260.1 property type molecule-type value Genomic_DNA dbReference id BK006940 type EMBL property type protein-sequence-ID value DAA12461.1 property type molecule-type value Genomic_DNA dbReference id S56276 type PIR property type entry-name value S56276 dbReference id NP_444297.1 type RefSeq property type nucleotide-sequence-ID value NM_001179986.1 dbReference id 6KYB type PDB property type method value X-ray property type resolution value 2.80-A property type chains value A/B/C/D=1-500 dbReference id 6KYB type PDBsum dbReference id P43601 type AlphaFoldDB dbReference id P43601 type SMR dbReference id 31174 type BioGRID property type interactions value 203 dbReference id CPX-3088 type ComplexPortal property type entry-name value PAS-complex dbReference id CPX-361 type ComplexPortal property type entry-name value ATG2-ATG18-complex dbReference id DIP-5185N type DIP dbReference id P43601 type IntAct property type interactions value 28 dbReference id P43601 type MINT dbReference id 4932.YFR021W type STRING dbReference id 9.A.15.1.1 type TCDB property type family-name value the-autophagy-related-phagophore-formation-transporter-(apt)-family dbReference id P43601 type iPTMnet dbReference id P43601 type MaxQB dbReference id P43601 type PaxDb dbReference id P43601 type PeptideAtlas dbReference id YFR021W_mRNA type EnsemblFungi property type protein-sequence-ID value YFR021W property type gene-ID value YFR021W dbReference id 850577 type GeneID dbReference id sce:YFR021W type KEGG dbReference id SGD:S000001917 type AGR dbReference id S000001917 type SGD property type gene-designation value ATG18 dbReference id FungiDB:YFR021W type VEuPathDB dbReference id KOG2110 type eggNOG property type taxonomic-scope value Eukaryota dbReference id ENSGT00940000167852 type GeneTree dbReference id CLU_025895_5_2_1 type HOGENOM dbReference id P43601 type InParanoid dbReference id TLGQIFP type OMA dbReference id 391429at2759 type OrthoDB dbReference id YEAST:G3O-30472-MON type BioCyc dbReference id R-SCE-1632852 type Reactome property type pathway-name value Macroautophagy dbReference id 850577 type BioGRID-ORCS property type hits value 0-hits-in-10-CRISPR-screens dbReference id PR:P43601 type PRO dbReference id UP000002311 type Proteomes property type component value Chromosome-VI dbReference id P43601 type RNAct property type molecule-type value protein dbReference id GO:0071944 type GO property type term value C:cell-periphery property type evidence value ECO:0007005 property type project value SGD dbReference id GO:0005829 type GO property type term value C:cytosol property type evidence value ECO:0000314 property type project value SGD dbReference id GO:0005768 type GO property type term value C:endosome property type evidence value ECO:0000314 property type project value SGD dbReference id GO:0010008 type GO property type term value C:endosome-membrane property type evidence value ECO:0007669 property type project value UniProtKB-SubCell dbReference id GO:0019898 type GO property type term value C:extrinsic-component-of-membrane property type evidence value ECO:0000318 property type project value GO_Central dbReference id GO:0000329 type GO property type term value C:fungal-type-vacuole-membrane property type evidence value ECO:0000314 property type project value SGD dbReference id GO:0070772 type GO property type term value C:PAS-complex property type evidence value ECO:0000314 property type project value SGD dbReference id GO:0061908 type GO property type term value C:phagophore property type evidence value ECO:0000314 property type project value SGD dbReference id GO:0000407 type GO property type term value C:phagophore-assembly-site property type evidence value ECO:0000314 property type project value SGD dbReference id GO:0034045 type GO property type term value C:phagophore-assembly-site-membrane property type evidence value ECO:0000314 property type project value ComplexPortal dbReference id GO:0032991 type GO property type term value C:protein-containing-complex property type evidence value ECO:0000314 property type project value ComplexPortal dbReference id GO:0005774 type GO property type term value C:vacuolar-membrane property type evidence value ECO:0000314 property type project value UniProtKB dbReference id GO:0080025 type GO property type term value F:phosphatidylinositol-3,5-bisphosphate-binding property type evidence value ECO:0000314 property type project value SGD dbReference id GO:0032266 type GO property type term value F:phosphatidylinositol-3-phosphate-binding property type evidence value ECO:0000314 property type project value SGD dbReference id GO:0070273 type GO property type term value F:phosphatidylinositol-4-phosphate-binding property type evidence value ECO:0000314 property type project value SGD dbReference id GO:0043130 type GO property type term value F:ubiquitin-binding property type evidence value ECO:0000314 property type project value SGD dbReference id GO:1903100 type GO property type term value P:1-phosphatidyl-1D-myo-inositol-3,5-bisphosphate-metabolic-process property type evidence value ECO:0000303 property type project value ComplexPortal dbReference id GO:0000045 type GO property type term value P:autophagosome-assembly property type evidence value ECO:0000303 property type project value ComplexPortal dbReference id GO:0000422 type GO property type term value P:autophagy-of-mitochondrion property type evidence value ECO:0000318 property type project value GO_Central dbReference id GO:0044804 type GO property type term value P:autophagy-of-nucleus property type evidence value ECO:0000318 property type project value GO_Central dbReference id GO:0030242 type GO property type term value P:autophagy-of-peroxisome property type evidence value ECO:0000315 property type project value SGD dbReference id GO:0032258 type GO property type term value P:cytoplasm-to-vacuole-transport-by-the-Cvt-pathway property type evidence value ECO:0000314 property type project value SGD dbReference id GO:0045324 type GO property type term value P:late-endosome-to-vacuole-transport property type evidence value ECO:0000315 property type project value SGD dbReference id GO:0044805 type GO property type term value P:late-nucleophagy property type evidence value ECO:0000315 property type project value SGD dbReference id GO:0016236 type GO property type term value P:macroautophagy property type evidence value ECO:0000314 property type project value SGD dbReference id GO:0034727 type GO property type term value P:piecemeal-microautophagy-of-the-nucleus property type evidence value ECO:0000315 property type project value SGD dbReference id GO:0044090 type GO property type term value P:positive-regulation-of-vacuole-organization property type evidence value ECO:0000315 property type project value SGD dbReference id GO:0006497 type GO property type term value P:protein-lipidation property type evidence value ECO:0000318 property type project value GO_Central dbReference id GO:0034497 type GO property type term value P:protein-localization-to-phagophore-assembly-site property type evidence value ECO:0000318 property type project value GO_Central dbReference id GO:0010511 type GO property type term value P:regulation-of-phosphatidylinositol-biosynthetic-process property type evidence value ECO:0000303 property type project value ComplexPortal dbReference id GO:0006624 type GO property type term value P:vacuolar-protein-processing property type evidence value ECO:0000314 property type project value SGD dbReference id 2.130.10.10 type Gene3D property type entry-name value YVTN-repeat-like/Quinoprotein-amine-dehydrogenase property type match-status value 1 dbReference id IPR015943 type InterPro property type entry-name value WD40/YVTN_repeat-like_dom_sf dbReference id IPR001680 type InterPro property type entry-name value WD40_repeat dbReference id IPR036322 type InterPro property type entry-name value WD40_repeat_dom_sf dbReference id PTHR11227:SF17 type PANTHER property type entry-name value WD-REPEAT-DOMAIN-PHOSPHOINOSITIDE-INTERACTING-PROTEIN-2 property type match-status value 1 dbReference id PTHR11227 type PANTHER property type entry-name value WD-REPEAT-PROTEIN-INTERACTING-WITH-PHOSPHOINOSIDES-WIPI--RELATED property type match-status value 1 dbReference id PF00400 type Pfam property type entry-name value WD40 property type match-status value 2 dbReference id SM00320 type SMART property type entry-name value WD40 property type match-status value 2 dbReference id SSF50978 type SUPFAM property type entry-name value WD40-repeat-like property type match-status value 1 dbReference id PS50294 type PROSITE property type entry-name value WD_REPEATS_REGION property type match-status value 1 proteinExistence type evidence-at-protein-level keyword id KW-0002 3D-structure keyword id KW-0072 Autophagy keyword id KW-0967 Endosome keyword id KW-0472 Membrane keyword id KW-0597 Phosphoprotein keyword id KW-0653 Protein-transport keyword id KW-1185 Reference-proteome keyword id KW-0677 Repeat keyword id KW-0813 Transport keyword id KW-0926 Vacuole keyword id KW-0853 WD-repeat feature description Autophagy-related-protein-18 id PRO_0000050874 type chain location begin position 1 end position 500 feature description WD-1 type repeat location begin position 243 end position 283 feature description WD-2 type repeat location begin position 288 end position 327 feature description Disordered evidence 1 type region-of-interest location begin position 174 end position 197 feature description Necessary-for-proper-localization-to-vacuole-membrane type region-of-interest location begin position 284 end position 287 feature description Disordered evidence 1 type region-of-interest location begin position 328 end position 358 feature description L/FRRG-motif evidence 30 type short-sequence-motif location begin position 284 end position 288 feature description Polar-residues evidence 1 type compositionally-biased-region location begin position 340 end position 355 feature description Phosphoserine evidence 33 type modified-residue location position position 354 feature description Slight-reduction-of-PIP2-binding. type mutagenesis-site original RRLR variation SSLS location begin position 73 end position 76 feature description Impairs-membrane-association. evidence 21 type mutagenesis-site original S variation A location position position 264 feature description Impairs-membrane-association. evidence 21 type mutagenesis-site original T variation A location position position 268 feature description Impairs-membrane-association. evidence 21 type mutagenesis-site original R variation A location position position 271 feature description Loss-of-recruitment-to-vacuole-membrane. evidence 21 type mutagenesis-site original RR variation GG location begin position 285 end position 286 feature description 40-fold-decrease-of-affinity-to-PIP2. evidence 21 type mutagenesis-site original RR variation TT location begin position 285 end position 286 feature description Impairs-membrane-association. evidence 21 type mutagenesis-site original R variation A location position position 285 feature description Impairs-membrane-association. evidence 21 type mutagenesis-site original R variation A location position position 286 feature description Impairs-membrane-association. evidence 21 type mutagenesis-site original S variation A location position position 311 feature description Impairs-membrane-association. evidence 21 type mutagenesis-site original T variation A location position position 313 feature description Impairs-membrane-association. evidence 21 type mutagenesis-site original H variation A location position position 315 feature evidence 34 type strand location begin position 8 end position 13 feature evidence 34 type strand location begin position 17 end position 26 feature evidence 34 type strand location begin position 28 end position 32 feature evidence 34 type turn location begin position 33 end position 36 feature evidence 34 type strand location begin position 37 end position 42 feature evidence 34 type strand location begin position 47 end position 52 feature evidence 34 type strand location begin position 54 end position 63 feature evidence 34 type strand location begin position 65 end position 67 feature evidence 34 type strand location begin position 74 end position 79 feature evidence 34 type turn location begin position 80 end position 83 feature evidence 34 type strand location begin position 84 end position 90 feature evidence 34 type strand location begin position 97 end position 100 feature evidence 34 type strand location begin position 102 end position 109 feature evidence 34 type strand location begin position 112 end position 117 feature evidence 34 type turn location begin position 118 end position 120 feature evidence 34 type strand location begin position 123 end position 128 feature evidence 34 type strand location begin position 147 end position 151 feature evidence 34 type strand location begin 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