InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MSX1

Summary

InnateDB Protein

IDBP-8570.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MSX1

Protein Name

msh homeobox 1

Synonyms

ECTD3; HOX7; HYD1; STHAG1;

Species

Homo sapiens

Ensembl Protein

ENSP00000372170

InnateDB Gene

IDBG-8568 (MSX1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:11369996, ECO:0000269PubMed:12807959}.

Subcellular Localization

Nucleus.

Disease Associations

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). Tooth agenesis selective type 1 can be associated with orofacial cleft in some patients. {ECO:0000269PubMed:12097313, ECO:0000269PubMed:8696335}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.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:0000269PubMed:11369996}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:12807959}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the developing nail bed mesenchyme. {ECO:0000269PubMed:11369996}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.

Experimentally validated
Total	22 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	3 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	18 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000982	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity
GO:0001227	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0001228	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0002039	p53 binding
GO:0003677	DNA binding
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0000902	cell morphogenesis
GO:0001701	in utero embryonic development
GO:0001837	epithelial to mesenchymal transition
GO:0003007	heart morphogenesis
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0006366	transcription from RNA polymerase II promoter
GO:0007507	heart development
GO:0007517	muscle organ development
GO:0008285	negative regulation of cell 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:0030326	embryonic limb morphogenesis
GO:0030509	BMP signaling pathway
GO:0030513	positive regulation of BMP signaling pathway
GO:0030900	forebrain development
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:0042476	odontogenesis
GO:0042481	regulation of odontogenesis
GO:0042733	embryonic digit morphogenesis
GO:0043066	negative regulation of apoptotic process
GO:0043392	negative regulation of DNA binding
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048863	stem cell differentiation
GO:0050821	protein stabilization
GO:0051154	negative regulation of striated muscle cell differentiation
GO:0051216	cartilage development
GO:0060021	palate 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:2000678	negative regulation of transcription regulatory region DNA binding
GO:2001055	positive regulation of mesenchymal cell apoptotic process