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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)
End	27,096,000 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	52,135,297 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; hair follicle; ; testicle; ; mucosa of transverse colon; ; germinal epithelium; ; granulocyte; ; urinary bladder; ; mucosa of sigmoid colon; ; parietal pleura; ; metanephros;
	Top expressed in
	primitive streak; ; somite; ; tail of embryo; ; embryo; ; condyle; ; embryo; ; endothelial cell of lymphatic vessel; ; fossa; ; abdominal wall; ; morula;
	More reference expression data
	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
	3198
	15394
	ENSG00000105991
	ENSMUSG00000029844
	P49639
	P09022
	NM_153620; NM_005522
	NM_010449; NM_001311118
	NP_005513; NP_705873
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

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

Gene

Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.^[8]

Function

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]

Clinical significance

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]

Regulation

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

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000105991 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029844 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Hong YS, Kim SY, Bhattacharya A, Pratt DR, Hong WK, Tainsky MA (July 1995). "Structure and function of the HOX A1 human homeobox gene cDNA". Gene. 159 (2): 209–14. doi:10.1016/0378-1119(95)92712-G. PMID 7622051.
^ Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters". Cytogenetics and Cell Genetics. 73 (1–2): 114–5. doi:10.1159/000134320. PMID 8646877.
^ McAlpine PJ, Shows TB (July 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
^ ^a ^b "Entrez Gene: HOXA1 homeobox A1".
^ Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM (December 2000). "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders". Teratology. 62 (6): 393–405. doi:10.1002/1096-9926(200012)62:6<393::AID-TERA6>3.0.CO;2-V. PMID 11091361.
^ Rodier, Patricia (February 2000). "The Early Origins of Autism". Scientific American. 282 (2): 56–63. Bibcode:2000SciAm.282b..56R. doi:10.1038/scientificamerican0200-56. PMID 10710787.
^ Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP (May 2008). "The clinical spectrum of homozygous HOXA1 mutations". American Journal of Medical Genetics Part A. 146A (10): 1235–40. doi:10.1002/ajmg.a.32262. PMC 3517166. PMID 18412118.
^ Garzon R, Pichiorri F, Palumbo T, Iuliano R, Cimmino A, Aqeilan R, Volinia S, Bhatt D, Alder H, Marcucci G, Calin GA, Liu CG, Bloomfield CD, Andreeff M, Croce CM (March 2006). "MicroRNA fingerprints during human megakaryocytopoiesis". Proceedings of the National Academy of Sciences of the United States of America. 103 (13): 5078–83. Bibcode:2006PNAS..103.5078G. doi:10.1073/pnas.0600587103. PMC 1458797. PMID 16549775.

External links

HOXA1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000105991 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029844 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7622051-5] Hong YS, Kim SY, Bhattacharya A, Pratt DR, Hong WK, Tainsky MA (July 1995). "Structure and function of the HOX A1 human homeobox gene cDNA". Gene. 159 (2): 209–14. doi:10.1016/0378-1119(95)92712-G. PMID 7622051.

[pmid8646877-6] Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters". Cytogenetics and Cell Genetics. 73 (1–2): 114–5. doi:10.1159/000134320. PMID 8646877.

[pmid1973146-7] McAlpine PJ, Shows TB (July 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.

[entrez-8] "Entrez Gene: HOXA1 homeobox A1".

[pmid11091361-9] Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM (December 2000). "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders". Teratology. 62 (6): 393–405. doi:10.1002/1096-9926(200012)62:6<393::AID-TERA6>3.0.CO;2-V. PMID 11091361.

[10] Rodier, Patricia (February 2000). "The Early Origins of Autism". Scientific American. 282 (2): 56–63. Bibcode:2000SciAm.282b..56R. doi:10.1038/scientificamerican0200-56. PMID 10710787.

[pmid18412118-11] Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP (May 2008). "The clinical spectrum of homozygous HOXA1 mutations". American Journal of Medical Genetics Part A. 146A (10): 1235–40. doi:10.1002/ajmg.a.32262. PMC 3517166. PMID 18412118.

[pmid16549775-12] Garzon R, Pichiorri F, Palumbo T, Iuliano R, Cimmino A, Aqeilan R, Volinia S, Bhatt D, Alder H, Marcucci G, Calin GA, Liu CG, Bloomfield CD, Andreeff M, Croce CM (March 2006). "MicroRNA fingerprints during human megakaryocytopoiesis". Proceedings of the National Academy of Sciences of the United States of America. 103 (13): 5078–83. Bibcode:2006PNAS..103.5078G. doi:10.1073/pnas.0600587103. PMC 1458797. PMID 16549775.

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