• Gene id: 3202

Gene Summary

• Gene Symbol: HOXA5   Gene   UCSC   Ensembl
• Aliases: HOX1, HOX1.3, HOX1C
• Gene name: homeobox A5
• Alternate names: homeobox protein Hox-A5, homeo box 1C, homeo box A5, homeobox protein HOXA5, homeobox protein Hox-1C,
• Gene location: 7p15.2 (27143680: 27141051)     Exons: 2     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: 142952

Protein Summary

• Protein general information: P20719  
  • Name: Homeobox protein Hox A5 (Homeobox protein Hox 1C)
  • Length: 270  
  • Mass: 29345
• Sequence:

  MSSYFVNSFCGRYPNGPDYQLHNYGDHSSVSEQFRDSASMHSGRYGYGYNGMDLSVGRSGSGHFGSGERARSYAA
  SASAAPAEPRYSQPATSTHSPQPDPLPCSAVAPSPGSDSHHGGKNSLSNSSGASADAGSTHISSREGVGTASGAE
  EDAPASSEQASAQSEPSPAPPAQPQIYPWMRKLHISHDNIGGPEGKRARTAYTRYQTLELEKEFHFNRYLTRRRR
  IEIAHALCLSERQIKIWFQNRRMKWKKDNKLKSMSMAAAGGAFRP

• Structural information:
  • Interpro: IPR009057  IPR017995  IPR001827  IPR017970  IPR001356   IPR020479  
  • Prosite: PS00032 PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000222726
• Other Databases: GeneCards:  HOXA5  Malacards:  HOXA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
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:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060764	cell-cell signaling involved in mammary gland development	IEA	biological process
GO:0060574	intestinal epithelial cell maturation	IEA	biological process
GO:0060536	cartilage morphogenesis	IEA	biological process
GO:0060484	lung-associated mesenchyme development	IEA	biological process
GO:0060481	lobar bronchus epithelium development	IEA	biological process
GO:0060480	lung goblet cell differentiation	IEA	biological process
GO:0060435	bronchiole development	IEA	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0033599	regulation of mammary gland epithelial cell proliferation	IEA	biological process
GO:0030878	thyroid gland development	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0003016	respiratory system process	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0060749	mammary gland alveolus development	IEA	biological process
GO:0060644	mammary gland epithelial cell differentiation	IEA	biological process
GO:0060638	mesenchymal-epithelial cell signaling	IEA	biological process
GO:0060535	trachea cartilage morphogenesis	IEA	biological process
GO:0060441	epithelial tube branching involved in lung morphogenesis	IEA	biological process
GO:0060439	trachea morphogenesis	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0048286	lung alveolus development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0007585	respiratory gaseous exchange by respiratory system	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0002009	morphogenesis of an epithelium	IEA	biological process
GO:0016525	negative regulation of angiogenesis	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0045639	positive regulation of myeloid cell differentiation	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0045647	negative regulation of erythrocyte differentiation	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0010870	positive regulation of receptor biosynthetic process	IDA	biological process
GO:0016525	negative regulation of angiogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881