UniProtKB - P28360 (MSX1_HUMAN)
Protein
Homeobox protein MSX-1
Gene
MSX1
Organism
Homo sapiens (Human)
Status
Functioni
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.2 Publications
Caution
It is uncertain whether Met-1 or Met-7 is the initiator.Curated
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 172 – 231 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- cis-regulatory region sequence-specific DNA binding Source: Ensembl
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: Ensembl
- p53 binding Source: BHF-UCL
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- activation of meiosis Source: Ensembl
- anterior/posterior pattern specification Source: Ensembl
- BMP signaling pathway involved in heart development Source: Ensembl
- bone morphogenesis Source: Ensembl
- cartilage morphogenesis Source: Ensembl
- cell morphogenesis Source: BHF-UCL
- cellular response to nicotine Source: Ensembl
- embryonic forelimb morphogenesis Source: Ensembl
- embryonic hindlimb morphogenesis Source: Ensembl
- embryonic morphogenesis Source: GO_Central
- embryonic nail plate morphogenesis Source: BHF-UCL
- epithelial to mesenchymal transition involved in endocardial cushion formation Source: Ensembl
- face morphogenesis Source: BHF-UCL
- in utero embryonic development Source: Ensembl
- mammary gland epithelium development Source: Ensembl
- mesenchymal cell proliferation Source: Ensembl
- midbrain development Source: Ensembl
- middle ear morphogenesis Source: Ensembl
- muscle organ development Source: Ensembl
- negative regulation of apoptotic process Source: Ensembl
- negative regulation of cell growth Source: BHF-UCL
- negative regulation of cell population proliferation Source: Ensembl
- negative regulation of striated muscle cell differentiation Source: Ensembl
- negative regulation of transcription regulatory region DNA binding Source: Ensembl
- odontogenesis of dentin-containing tooth Source: BHF-UCL
- pituitary gland development Source: Ensembl
- positive regulation of BMP signaling pathway Source: Ensembl
- positive regulation of DNA damage response, signal transduction by p53 class mediator Source: BHF-UCL
- positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator Source: BHF-UCL
- positive regulation of mesenchymal cell apoptotic process Source: Ensembl
- protein localization to nucleus Source: BHF-UCL
- protein stabilization Source: BHF-UCL
- regulation of odontogenesis Source: Ensembl
- roof of mouth development Source: Ensembl
- signal transduction involved in regulation of gene expression Source: Ensembl
- stem cell differentiation Source: Ensembl
Keywordsi
Molecular function | Developmental protein, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P28360 |
SignaLinki | P28360 |
SIGNORi | P28360 |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox protein MSX-1Alternative name(s): Homeobox protein Hox-7 Msh homeobox 1-like protein |
Gene namesi | Name:MSX1 Synonyms:HOX7 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000163132.6 |
HGNCi | HGNC:7391, MSX1 |
MIMi | 142983, gene |
neXtProti | NX_P28360 |
Subcellular locationi
Nucleus
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleoplasm Source: HPA
- nucleus Source: BHF-UCL
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Tooth agenesis, selective, 1 (STHAG1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015712 | 67 | M → K in STHAG1. 1 PublicationCorresponds to variant dbSNP:rs121913130EnsemblClinVar. | 1 | |
Natural variantiVAR_003754 | 202 | R → P in STHAG1. 1 PublicationCorresponds to variant dbSNP:rs121913129EnsemblClinVar. | 1 |
MSX1 is deleted in some patients with Wolf-Hirschhorn syndrome (WHS). WHS results from sub-telomeric deletions in the short arm of chromosome 4.1 Publication
Ectodermal dysplasia 3, Witkop type (ECTD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMNon-syndromic orofacial cleft 5 (OFC5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018391 | 84 | E → V in OFC5; cleft palate only. 1 PublicationCorresponds to variant dbSNP:rs28928890EnsemblClinVar. | 1 | |
Natural variantiVAR_018392 | 97 | G → D in OFC5; cleft palate only. 1 Publication | 1 | |
Natural variantiVAR_018393 | 120 | V → G in OFC5; cleft palate only. 1 PublicationCorresponds to variant dbSNP:rs759548721Ensembl. | 1 | |
Natural variantiVAR_018394 | 122 | G → E in OFC5; bilateral cleft palate. 1 PublicationCorresponds to variant dbSNP:rs28933081EnsemblClinVar. | 1 | |
Natural variantiVAR_018395 | 157 | R → S in OFC5; unilateral cleft palate. 2 PublicationsCorresponds to variant dbSNP:rs150284621EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Ectodermal dysplasiaOrganism-specific databases
DisGeNETi | 4487 |
MalaCardsi | MSX1 |
MIMi | 106600, phenotype 189500, phenotype 608874, phenotype |
OpenTargetsi | ENSG00000163132 |
Orphaneti | 141291, Cleft lip and alveolus 199306, Cleft lip/palate 2228, Hypodontia-dysplasia of nails syndrome 199302, Isolated cleft lip 2227, NON RARE IN EUROPE: Hypodontia 99798, Oligodontia |
PharmGKBi | PA31196 |
Miscellaneous databases
Pharosi | P28360, Tbio |
Polymorphism and mutation databases
BioMutai | MSX1 |
DMDMi | 557952603 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000049086 | 1 – 303 | Homeobox protein MSX-1Add BLAST | 303 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 15 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity | ||
Cross-linki | 133 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity |
Post-translational modificationi
Sumoylated by PIAS1, desumoylated by SENP1.By similarity
Keywords - PTMi
Isopeptide bond, Ubl conjugationProteomic databases
jPOSTi | P28360 |
MassIVEi | P28360 |
MaxQBi | P28360 |
PaxDbi | P28360 |
PeptideAtlasi | P28360 |
PRIDEi | P28360 |
ProteomicsDBi | 54482 |
PTM databases
iPTMneti | P28360 |
PhosphoSitePlusi | P28360 |
Expressioni
Tissue specificityi
Expressed in the developing nail bed mesenchyme.1 Publication
Gene expression databases
Bgeei | ENSG00000163132, Expressed in endometrium and 202 other tissues |
Genevisiblei | P28360, HS |
Organism-specific databases
HPAi | ENSG00000163132, Tissue enhanced (enhanced) |
Interactioni
Binary interactionsi
P28360
With | #Exp. | IntAct |
---|---|---|
RBPMS - isoform C [Q93062-3] | 3 | EBI-3919342,EBI-740343 |
GO - Molecular functioni
- p53 binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 110593, 15 interactors |
CORUMi | P28360 |
IntActi | P28360, 6 interactors |
MINTi | P28360 |
STRINGi | 9606.ENSP00000372170 |
Miscellaneous databases
RNActi | P28360, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 35 – 42 | Poly-Ala | 8 | |
Compositional biasi | 261 – 269 | Poly-Ala | 9 |
Sequence similaritiesi
Belongs to the Msh homeobox family.Curated
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0492, Eukaryota |
GeneTreei | ENSGT00940000161623 |
HOGENOMi | CLU_072675_1_0_1 |
InParanoidi | P28360 |
OMAi | KQERTPW |
OrthoDBi | 1226077at2759 |
PhylomeDBi | P28360 |
TreeFami | TF350699 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR020479, Homeobox_metazoa |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00024, HOMEOBOX |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
i Sequence
Sequence statusi: Complete.
P28360-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAPAADMTSL PLGVKVEDSA FGKPAGGGAG QAPSAAAATA AAMGADEEGA
60 70 80 90 100
KPKVSPSLLP FSVEALMADH RKPGAKESAL APSEGVQAAG GSAQPLGVPP
110 120 130 140 150
GSLGAPDAPS SPRPLGHFSV GGLLKLPEDA LVKAESPEKP ERTPWMQSPR
160 170 180 190 200
FSPPPARRLS PPACTLRKHK TNRKPRTPFT TAQLLALERK FRQKQYLSIA
210 220 230 240 250
ERAEFSSSLS LTETQVKIWF QNRRAKAKRL QEAELEKLKM AAKPMLPPAA
260 270 280 290 300
FGLSFPLGGP AAVAAAAGAS LYGASGPFQR AALPVAPVGL YTAHVGYSMY
HLT
Sequence cautioni
The sequence AAA52683 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAA58665 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH67353 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAL17870 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence ABK81117 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAF83325 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 28 | G → D in BAF83325 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 45 | A → T in AAA58665 (PubMed:1284527).Curated | 1 | |
Sequence conflicti | 97 – 99 | GVP → ASR in AAA58665 (PubMed:1284527).Curated | 3 | |
Sequence conflicti | 146 | M → T in BAF83325 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 222 | N → S in BAF83325 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_015712 | 67 | M → K in STHAG1. 1 PublicationCorresponds to variant dbSNP:rs121913130EnsemblClinVar. | 1 | |
Natural variantiVAR_018391 | 84 | E → V in OFC5; cleft palate only. 1 PublicationCorresponds to variant dbSNP:rs28928890EnsemblClinVar. | 1 | |
Natural variantiVAR_018392 | 97 | G → D in OFC5; cleft palate only. 1 Publication | 1 | |
Natural variantiVAR_018393 | 120 | V → G in OFC5; cleft palate only. 1 PublicationCorresponds to variant dbSNP:rs759548721Ensembl. | 1 | |
Natural variantiVAR_018394 | 122 | G → E in OFC5; bilateral cleft palate. 1 PublicationCorresponds to variant dbSNP:rs28933081EnsemblClinVar. | 1 | |
Natural variantiVAR_018395 | 157 | R → S in OFC5; unilateral cleft palate. 2 PublicationsCorresponds to variant dbSNP:rs150284621EnsemblClinVar. | 1 | |
Natural variantiVAR_003754 | 202 | R → P in STHAG1. 1 PublicationCorresponds to variant dbSNP:rs121913129EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M76732, M76731 Genomic DNA Translation: AAA58665.1 Different initiation. M97676 mRNA Translation: AAA52683.1 Different initiation. AF426432 Genomic DNA Translation: AAL17870.1 Different initiation. AK290636 mRNA Translation: BAF83325.1 Different initiation. AC092437 Genomic DNA No translation available. BC021285 mRNA Translation: AAH21285.4 BC067353 mRNA Translation: AAH67353.1 Different initiation. EF065625 Genomic DNA Translation: ABK81117.1 Different initiation. |
CCDSi | CCDS3378.2 |
PIRi | A40560 I54320 |
RefSeqi | NP_002439.2, NM_002448.3 |
Genome annotation databases
Ensembli | ENST00000382723; ENSP00000372170; ENSG00000163132 |
GeneIDi | 4487 |
KEGGi | hsa:4487 |
UCSCi | uc003gif.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M76732, M76731 Genomic DNA Translation: AAA58665.1 Different initiation. M97676 mRNA Translation: AAA52683.1 Different initiation. AF426432 Genomic DNA Translation: AAL17870.1 Different initiation. AK290636 mRNA Translation: BAF83325.1 Different initiation. AC092437 Genomic DNA No translation available. BC021285 mRNA Translation: AAH21285.4 BC067353 mRNA Translation: AAH67353.1 Different initiation. EF065625 Genomic DNA Translation: ABK81117.1 Different initiation. |
CCDSi | CCDS3378.2 |
PIRi | A40560 I54320 |
RefSeqi | NP_002439.2, NM_002448.3 |
3D structure databases
SMRi | P28360 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110593, 15 interactors |
CORUMi | P28360 |
IntActi | P28360, 6 interactors |
MINTi | P28360 |
STRINGi | 9606.ENSP00000372170 |
PTM databases
iPTMneti | P28360 |
PhosphoSitePlusi | P28360 |
Polymorphism and mutation databases
BioMutai | MSX1 |
DMDMi | 557952603 |
Proteomic databases
jPOSTi | P28360 |
MassIVEi | P28360 |
MaxQBi | P28360 |
PaxDbi | P28360 |
PeptideAtlasi | P28360 |
PRIDEi | P28360 |
ProteomicsDBi | 54482 |
Protocols and materials databases
Antibodypediai | 9270, 370 antibodies |
Genome annotation databases
Ensembli | ENST00000382723; ENSP00000372170; ENSG00000163132 |
GeneIDi | 4487 |
KEGGi | hsa:4487 |
UCSCi | uc003gif.4, human |
Organism-specific databases
CTDi | 4487 |
DisGeNETi | 4487 |
EuPathDBi | HostDB:ENSG00000163132.6 |
GeneCardsi | MSX1 |
HGNCi | HGNC:7391, MSX1 |
HPAi | ENSG00000163132, Tissue enhanced (enhanced) |
MalaCardsi | MSX1 |
MIMi | 106600, phenotype 142983, gene 189500, phenotype 608874, phenotype |
neXtProti | NX_P28360 |
OpenTargetsi | ENSG00000163132 |
Orphaneti | 141291, Cleft lip and alveolus 199306, Cleft lip/palate 2228, Hypodontia-dysplasia of nails syndrome 199302, Isolated cleft lip 2227, NON RARE IN EUROPE: Hypodontia 99798, Oligodontia |
PharmGKBi | PA31196 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0492, Eukaryota |
GeneTreei | ENSGT00940000161623 |
HOGENOMi | CLU_072675_1_0_1 |
InParanoidi | P28360 |
OMAi | KQERTPW |
OrthoDBi | 1226077at2759 |
PhylomeDBi | P28360 |
TreeFami | TF350699 |
Enzyme and pathway databases
PathwayCommonsi | P28360 |
SignaLinki | P28360 |
SIGNORi | P28360 |
Miscellaneous databases
BioGRID-ORCSi | 4487, 8 hits in 869 CRISPR screens |
ChiTaRSi | MSX1, human |
GeneWikii | MSX1 |
GenomeRNAii | 4487 |
Pharosi | P28360, Tbio |
PROi | PR:P28360 |
RNActi | P28360, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163132, Expressed in endometrium and 202 other tissues |
Genevisiblei | P28360, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR020479, Homeobox_metazoa |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00024, HOMEOBOX |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MSX1_HUMAN | |
Accessioni | P28360Primary (citable) accession number: P28360 Secondary accession number(s): A0SZU5, A8K3M1, Q96NY4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 1992 |
Last sequence update: | November 13, 2013 | |
Last modified: | December 2, 2020 | |
This is version 215 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations