• Gene id: 3200

Gene Summary

• Gene Symbol: HOXA3   Gene   UCSC   Ensembl
• Aliases: HOX1, HOX1E
• Gene name: homeobox A3
• Alternate names: homeobox protein Hox-A3, Hox-1.5-like protein, homeo box 1E, homeo box A3, homeobox protein Hox-1E,
• Gene location: 7p15.2 (27153237: 27106189)     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: 142954

SNPs

rs1801085

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

NC_000007.14   g.27128971A>G
NC_000007.13   g.27168590A>G
NM_002141.4   c.*254T>C
NM_002141.5   c.*254T>C|SEQ=[A/G]|GENE=HOXA3
HOXA4   3201
HOXA-AS2   285943

Protein Summary

• Protein general information: O43365  
  • Name: Homeobox protein Hox A3 (Homeobox protein Hox 1E)
  • Length: 443  
  • Mass: 46369
• Sequence:

  MQKATYYDSSAIYGGYPYQAANGFAYNANQQPYPASAALGADGEYHRPACSLQSPSSAGGHPKAHELSEACLRTL
  SAPPSQPPSLGEPPLHPPPPQAAPPAPQPPQPAPQPPAPTPAAPPPPSSASPPQNASNNPTPANAAKSPLLNSPT
  VAKQIFPWMKESRQNTKQKTSSSSSGESCAGDKSPPGQASSKRARTAYTSAQLVELEKEFHFNRYLCRPRRVEMA
  NLLNLTERQIKIWFQNRRMKYKKDQKGKGMLTSSGGQSPSRSPVPPGAGGYLNSMHSLVNSVPYEPQSPPPFSKP
  PQGTYGLPPASYPASLPSCAPPPPPQKRYTAAGAGAGGTPDYDPHAHGLQGNGSYGTPHIQGSPVFVGGSYVEPM
  SNSGPALFGLTHLPHAASGAMDYGGAGPLGSGHHHGPGPGEPHPTYTDLTGHHPSQGRIQEAPKLTHL

• Structural information:
  • Interpro: IPR025281  IPR009057  IPR001827  IPR017970  IPR001356   IPR020479  
  • Prosite: PS00032 PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000484411
• Other Databases: GeneCards:  HOXA3  Malacards:  HOXA3

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0048704	embryonic skeletal system morphogenesis	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
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:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
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:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0021615	glossopharyngeal nerve morphogenesis	IEA	biological process
GO:0010467	gene expression	IEA	biological process
GO:0010159	specification of animal organ position	IEA	biological process
GO:1900122	positive regulation of receptor binding	IEA	biological process
GO:0071837	HMG box domain binding	IEA	molecular function
GO:0060017	parathyroid gland development	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0048645	animal organ formation	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0030878	thyroid gland development	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0001525	angiogenesis	IEP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq