• Gene id: 3209

Gene Summary

• Gene Symbol: HOXA13   Gene   UCSC   Ensembl
• Aliases: HOX1, HOX1J
• Gene name: homeobox A13
• Alternate names: homeobox protein Hox-A13, homeo box 1J, homeo box A13, homeobox protein HOXA13, homeobox protein Hox-1J, transcription factor HOXA13,
• Gene location: 7p15.2 (27200090: 27194363)     Exons: 9     NC_000007.14
• Gene summary(Entrez): In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic develo
• OMIM: 142959

Protein Summary

• Protein general information: P31271  
  • Name: Homeobox protein Hox A13 (Homeobox protein Hox 1J)
  • Length: 388  
  • Mass: 39727
• Sequence:

  MTASVLLHPRWIEPTVMFLYDNGGGLVADELNKNMEGAAAAAAAAAAAAAAGAGGGGFPHPAAAAAGGNFSVAAA
  AAAAAAAAANQCRNLMAHPAPLAPGAASAYSSAPGEAPPSAAAAAAAAAAAAAAAAAASSSGGPGPAGPAGAEAA
  KQCSPCSAAAQSSSGPAALPYGYFGSGYYPCARMGPHPNAIKSCAQPASAAAAAAFADKYMDTAGPAAEEFSSRA
  KEFAFYHQGYAAGPYHHHQPMPGYLDMPVVPGLGGPGESRHEPLGLPMESYQPWALPNGWNGQMYCPKEQAQPPH
  LWKSTLPDVVSHPSDASSYRRGRKKRVPYTKVQLKELEREYATNKFITKDKRRRISATTNLSERQVTIWFQNRRV
  KEKKVINKLKTTS

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR022067  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 2L7Z
  • PDBsum: 2L7Z
  • STRING: ENSP00000222753
• Other Databases: GeneCards:  HOXA13  Malacards:  HOXA13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043565	sequence-specific DNA binding	IMP	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	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:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Hand-foot-genital syndrome	KEGG:H00460
Guttmacher syndrome	KEGG:H00859
Hand-foot-genital syndrome	KEGG:H00460
Guttmacher syndrome	KEGG:H00859
Hand-foot-genital syndrome	PMID:9020844
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)