• Gene id: 3207

Gene Summary

• Gene Symbol: HOXA11   Gene   UCSC   Ensembl
• Aliases: HOX1, HOX1I, RUSAT1
• Gene name: homeobox A11
• Alternate names: homeobox protein Hox-A11, homeo box 1I, homeobox protein HOXA11, homeobox protein Hox-1I,
• Gene location: 7p15.2 (27185231: 27181156)     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

SNPs

rs6461992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27181212A>G
NC_000007.14   g.27181212A>T
NC_000007.13   g.27220831A>G
NC_000007.13   g.27220831A>T
NG_012079.1   g.9005T>C
NG_012079.1   g.9005T>A
NM_005523.6   c.*1584T>C
NM_005523.6   c.*1584T>A
NM_005523.5   c.*1584T>C
NM_005523.5   c.*1584T>A|SEQ=[A

Protein Summary

• Protein general information: P31270  
  • Name: Homeobox protein Hox A11 (Homeobox protein Hox 1I)
  • Length: 313  
  • Mass: 34486
• Sequence:

  MDFDERGPCSSNMYLPSCTYYVSGPDFSSLPSFLPQTPSSRPMTYSYSSNLPQVQPVREVTFREYAIEPATKWHP
  RGNLAHCYSAEELVHRDCLQAPSAAGVPGDVLAKSSANVYHHPTPAVSSNFYSTVGRNGVLPQAFDQFFETAYGT
  PENLASSDYPGDKSAEKGPPAATATSAAAAAAATGAPATSSSDSGGGGGCRETAAAAEEKERRRRPESSSSPESS
  SGHTEDKAGGSSGQRTRKKRCPYTKYQIRELEREFFFSVYINKEKRLQLSRMLNLTDRQVKIWFQNRRMKEKKIN
  RDRLQYYSANPLL

• Structural information:
  • Interpro: IPR021918  IPR009057  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000006015
• Other Databases: GeneCards:  HOXA11  Malacards:  HOXA11

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: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:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0007501	mesodermal cell fate specification	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0032330	regulation of chondrocyte differentiation	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0032993	protein-DNA complex	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0060351	cartilage development involved in endochondral bone morphogenesis	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0001759	organ induction	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009954	proximal/distal pattern formation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010720	positive regulation of cell development	IEA	biological process
GO:0032332	positive regulation of chondrocyte differentiation	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0060065	uterus development	IEA	biological process
GO:0060272	embryonic skeletal joint morphogenesis	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0060351	cartilage development involved in endochondral bone morphogenesis	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0032993	protein-DNA complex	ISS	cellular component
GO:0009953	dorsal/ventral pattern formation	ISS	biological process
GO:0007501	mesodermal cell fate specification	ISS	biological process
GO:0048589	developmental growth	ISS	biological process
GO:0010720	positive regulation of cell development	ISS	biological process
GO:0032991	protein-containing complex	ISS	cellular component
GO:0030326	embryonic limb morphogenesis	ISS	biological process
GO:0001501	skeletal system development	ISS	biological process
GO:0032332	positive regulation of chondrocyte differentiation	ISS	biological process
GO:0007275	multicellular organism development	ISS	biological process
GO:0005667	transcription regulator complex	ISS	cellular component
GO:0001658	branching involved in ureteric bud morphogenesis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Radioulnar synostosis with amegakaryocytic thrombocytopenia	KEGG:H00867
Radioulnar synostosis with amegakaryocytic thrombocytopenia	KEGG:H00867
Radioulnar synostosis	PMID:11101832
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray