Entity Details

Primary name MSX1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP28360
EntryNameMSX1_HUMAN
FullNameHomeobox protein MSX-1
TaxID9606
Evidenceevidence at protein level
Length303
SequenceStatuscomplete
DateCreated1992-12-01
DateModified2021-06-02

Ontological Relatives

GenesMSX1

GO terms

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GOName
GO:0000785 chromatin
GO:0000902 cell morphogenesis
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0000987 cis-regulatory region sequence-specific DNA binding
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001701 in utero embryonic development
GO:0002039 p53 binding
GO:0003161 cardiac conduction system development
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007517 muscle organ development
GO:0008285 negative regulation of cell population proliferation
GO:0009952 anterior/posterior pattern specification
GO:0010463 mesenchymal cell proliferation
GO:0021983 pituitary gland development
GO:0023019 signal transduction involved in regulation of gene expression
GO:0030308 negative regulation of cell growth
GO:0030513 positive regulation of BMP signaling pathway
GO:0030901 midbrain development
GO:0034504 protein localization to nucleus
GO:0035115 embryonic forelimb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0035880 embryonic nail plate morphogenesis
GO:0042474 middle ear morphogenesis
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042481 regulation of odontogenesis
GO:0043066 negative regulation of apoptotic process
GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator
GO:0048598 embryonic morphogenesis
GO:0048863 stem cell differentiation
GO:0050821 protein stabilization
GO:0051154 negative regulation of striated muscle cell differentiation
GO:0060021 roof of mouth development
GO:0060325 face morphogenesis
GO:0060349 bone morphogenesis
GO:0060536 cartilage morphogenesis
GO:0061180 mammary gland epithelium development
GO:0061312 BMP signaling pathway involved in heart development
GO:0071316 cellular response to nicotine
GO:0090427 activation of meiosis
GO:1902255 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator
GO:1990837 sequence-specific double-stranded DNA binding
GO:2000678 negative regulation of transcription regulatory region DNA binding
GO:2001055 positive regulation of mesenchymal cell apoptotic process

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR020479 Homeobox domain, metazoaDomainDomain

Diseases

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Disease IDSourceNameDescription
189500 OMIMEctodermal dysplasia 3, Witkop type (ECTD3)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. The disease is caused by variants affecting the gene represented in this entry.
106600 OMIMTooth agenesis, selective, 1 (STHAG1)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. The disease is caused by variants affecting the gene represented in this entry.
608874 OMIMNon-syndromic orofacial cleft 5 (OFC5)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. The disease is caused by variants affecting the gene represented in this entry.