Homeobox protein Hox-A1 is a protein that in humans is encoded by the HOXA1 gene.^[5][6][7]

Quick Facts HOXA1, Identifiers ...

HOXA1
Identifiers
Aliases	HOXA1, BSAS, HOX1, HOX1F, Homeobox A1
External IDs	OMIM: 142955; MGI: 96170; HomoloGene: 4032; GeneCards: HOXA1; OMA:HOXA1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p15.2 Start 27,092,993 bp[1] End 27,096,000 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 B3|6 25.4 cM Start 52,132,570 bp[2] End 52,135,297 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte hair follicle germinal epithelium urinary bladder parietal pleura metanephros glomerulus nipple stromal cell of endometrium tibia Top expressed in primitive streak somite condyle fossa abdominal wall endocardial cushion ureter medullary collecting duct renal corpuscle substantia nigra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein binding identical protein binding DNA-binding transcription activator activity, RNA polymerase II-specific sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process cochlea development abducens nerve formation regulation of behavior regulation of transcription, DNA-templated cognition embryonic neurocranium morphogenesis anatomical structure morphogenesis outer ear morphogenesis hearing optokinetic behavior transcription, DNA-templated semicircular canal formation multicellular organism development neuromuscular process cochlea morphogenesis artery morphogenesis artery development inner ear development transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3198 15394 Ensembl ENSG00000105991 ENSMUSG00000029844 UniProt P49639 P09022 RefSeq (mRNA) NM_153620 NM_005522 NM_010449 NM_001311118 RefSeq (protein) NP_005513 NP_705873 n/a Location (UCSC) Chr 7: 27.09 – 27.1 Mb Chr 6: 52.13 – 52.14 Mb PubMed search [3] [4]
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Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.^[8]

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 development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and cellular differentiation. The homeobox protein Hox-A1 may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development.^[8]

A common polymorphism in the HOXA1 gene is associated with a susceptibility to autism spectrum disorder, with individuals possessing these gene variant have an approximately doubled risk of developing the disorder.^[9] Studies on knockout mice have indicated that the gene can alter embryological development of the brain stem (specifically the facial and superior olivary nuclei), as well as induce several other physical changes such as in ear shape.^[10] Both of these sets of changes can also be seen in patients with autism.

Other HOXA1 mutations are associated with Bosley-Salih-Alorainy syndrome (BSAS) or the Athabaskan brainstem dysgenesis syndrome (ABDS).^[11]

The HOXA1 gene is repressed by the microRNA miR-10a.^[12]

• Homeobox