MSX1
entrez
4487
canonical
uniprot
P28360
canonical
ensembl
ENSG00000163132
resolver
ensp
ENSP00000372170
resolver
enst
ENST00000382723
resolver
genesymbol
MSX1
resolver
genesymbol_syn
HOX7
resolver
hgnc
HGNC:7391
resolver
uniprot
A0SZU5
resolver
uniprot
A8K3M1
resolver
uniprot
Q96NY4
resolver
uniprot_entry
MSX1_HUMAN
resolver
uniprot_sec
A0SZU5
resolver
uniprot_sec
A8K3M1
resolver
uniprot_sec
Q96NY4
resolver
amino_acid_sequence
MAPAADMTSLPLGVKVEDSAFGKPAGGGAGQAPSAAAATAAAMGADEEGAKPKVSPSLLPFSVEALMADHRKPGAKESALAPSEGVQAAGGSAQPLGVPPGSLGAPDAPSSPRPLGHFSVGGLLKLPEDALVKAESPEKPERTPWMQSPRFSPPPARRLSPPACTLRKHKTNRKPRTPFTTAQLLALERKFRQKQYLSIAERAEFSSSLSLTETQVKIWFQNRRAKAKRLQEAELEKLKMAAKPMLPPAAFGLSFPLGGPAAVAAAAGASLYGASGPFQRAALPVAPVGLYTAHVGYSMYHLT
uniprot
proteins
disease_involvement
DISEASE: Tooth agenesis, selective, 1 (STHAG1) [MIM:106600]: 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. {ECO:0000269|PubMed:12097313, ECO:0000269|PubMed:8696335}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=MSX1 is deleted in some patients with Wolf-Hirschhorn syndrome (WHS). WHS results from sub-telomeric deletions in the short arm of chromosome 4. {ECO:0000305|PubMed:1969845}.; DISEASE: Ectodermal dysplasia 3, Witkop type (ECTD3) [MIM:189500]: 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. {ECO:0000269|PubMed:11369996}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]: 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. {ECO:0000269|PubMed:12807959}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional repressor (By similarity). Capable of transcription autoinactivation (By similarity). Binds to the consensus sequence 5'-C/GTAAT-3' in downstream activin regulatory elements (DARE) in the gene promoter, thereby repressing the transcription of CGA/alpha-GSU and GNRHR (By similarity). Represses transcription of myoblast differentiation factors (By similarity). Binds to core enhancer regions in target gene promoters of myoblast differentiation factors with binding specificity facilitated by interaction with PIAS1 (By similarity). Regulates, in a stage-specific manner, a developmental program of gene expression in the fetal tooth bud that controls odontoblast differentiation and proliferation of dental mesenchymal cells (By similarity). At the bud stage, required for mesenchymal molar tooth bud development via facilitating reciprocal signaling between dental epithelial and mesenchymal cells (By similarity). May also regulate expression of Wnt antagonists such as DKK2 and SFPR2 in the developing tooth mesenchyme (By similarity). Required for BMP4 expression in dental mesenchyme cells (By similarity). Also, in response to BMP4, required for BMP4 expression in neighboring dental epithelial cells (By similarity). Required for maximal FGF4-induced expression of SDC1 in dental mesenchyme cells (By similarity). Also in response to SDC1, required for SDC1 expression in neighboring dental epithelial cells (By similarity). At the early bell stage, acts to drive proliferation of dental mesenchyme cells, however during the late bell stage acts as an homeostatic regulator of the cell cycle (By similarity). Regulates proliferation and inhibits premature mesenchymal odontogenesis during the bell stage via inhibition of the Wnt signaling component CTNNB1 and subsequent repression of the odontoblast differentiation factors BMP2, BMP4, LEF1, ALPL and BGLAP/OCN (By similarity). Additionally, required for correct development and fusion of the palatal shelves and embryonic mandibular formation (By similarity). Plays a role in embryonic bone formation of the middle ear, skull and nasal bones (By similarity). Required for correct formation and thickness of the nail plate (By similarity). May play a role in limb-pattern formation (By similarity). {ECO:0000250|UniProtKB:P13297, ECO:0000269|PubMed:12807959, ECO:0000303|PubMed:8696335}.
uniprot
proteins
mass_dalton
31496
uniprot
proteins
post_translational_modification
PTM: Sumoylated by PIAS1, desumoylated by SENP1 (By similarity). Sumoylation of Lys-15 and Lys-133 not required for interaction with H1-5, transcriptional repression, inhibition of myoblast differentiation, or binding to gene promoters (By similarity). {ECO:0000250|UniProtKB:P13297}.
uniprot
proteins
protein_family
Msh homeobox family
uniprot
proteins
pubmed
11369996
uniprot
proteins
pubmed
12097313
uniprot
proteins
pubmed
12807959
uniprot
proteins
pubmed
1284527
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16600910
uniprot
proteins
pubmed
1685479
uniprot
proteins
pubmed
1969845
uniprot
proteins
pubmed
8696335
uniprot
proteins
sequence_length
303
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P13297}. Note=Interaction with PIAS1 is required for localization to the nuclear periphery (By similarity). {ECO:0000250|UniProtKB:P13297}.
uniprot
proteins