• Gene id: 4487

Gene Summary

• Gene Symbol: MSX1   Gene   UCSC   Ensembl
• Aliases: ECTD3, HOX7, HYD1, STHAG1
• Gene name: msh homeobox 1
• Alternate names: homeobox protein MSX-1, homeobox 7, homeobox protein Hox-7, msh homeo box 1, msh homeobox 1-like protein, msh homeobox homolog 1,
• Gene location: 4p16.2 (4859664: 4863935)     Exons: 2     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may
• OMIM: 142983

Protein Summary

• Protein general information: P28360  
  • Name: Homeobox protein MSX 1 (Homeobox protein Hox 7) (Msh homeobox 1 like protein)
  • Length: 303  
  • Mass: 31496
  • Tissue specificity: Expressed in the developing nail bed mesenchyme. {ECO
• Sequence:

  MAPAADMTSLPLGVKVEDSAFGKPAGGGAGQAPSAAAATAAAMGADEEGAKPKVSPSLLPFSVEALMADHRKPGA
  KESALAPSEGVQAAGGSAQPLGVPPGSLGAPDAPSSPRPLGHFSVGGLLKLPEDALVKAESPEKPERTPWMQSPR
  FSPPPARRLSPPACTLRKHKTNRKPRTPFTTAQLLALERKFRQKQYLSIAERAEFSSSLSLTETQVKIWFQNRRA
  KAKRLQEAELEKLKMAAKPMLPPAAFGLSFPLGGPAAVAAAAGASLYGASGPFQRAALPVAPVGLYTAHVGYSMY
  HLT

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000372170
• Other Databases: GeneCards:  MSX1  Malacards:  MSX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0048598	embryonic morphogenesis	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0021983	pituitary gland development	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0071316	cellular response to nicotine	IEA	biological process
GO:0035880	embryonic nail plate morphogenesis	IEA	biological process
GO:0042481	regulation of odontogenesis	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0048863	stem cell differentiation	IEA	biological process
GO:0060325	face morphogenesis	IEA	biological process
GO:0060536	cartilage morphogenesis	IEA	biological process
GO:0061180	mammary gland epithelium development	IEA	biological process
GO:0061312	BMP signaling pathway involved in heart development	IEA	biological process
GO:0090427	activation of meiosis	IEA	biological process
GO:2000678	negative regulation of transcription regulatory region DNA binding	IEA	biological process
GO:2001055	positive regulation of mesenchymal cell apoptotic process	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0007517	muscle organ development	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0010463	mesenchymal cell proliferation	IEA	biological process
GO:0023019	signal transduction involved in regulation of gene expression	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042476	odontogenesis	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0043392	negative regulation of DNA binding	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0051154	negative regulation of striated muscle cell differentiation	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0060349	bone morphogenesis	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001837	epithelial to mesenchymal transition	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007507	heart development	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0002039	p53 binding	IPI	molecular function
GO:0000902	cell morphogenesis	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0034504	protein localization to nucleus	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0035880	embryonic nail plate morphogenesis	IMP	biological process
GO:0060325	face morphogenesis	IMP	biological process
GO:0060325	face morphogenesis	IMP	biological process
GO:0060325	face morphogenesis	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	IC	biological process
GO:1902255	positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IDA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IMP	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IMP	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05166	Human T-cell leukemia virus 1 infection

Diseases

Associated diseases	References
Tooth agenesis	KEGG:H00625
Cleft lip and/or cleft palate	KEGG:H00516
Tooth and nail syndrome	KEGG:H00643
Tooth agenesis	KEGG:H00625
Cleft lip and/or cleft palate	KEGG:H00516
Tooth and nail syndrome	KEGG:H00643
Anodontia	PMID:8696335
cleft palate	PMID:12807959
Cleft lip	PMID:12807959
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881