HOXA1

Homeobox A1
Identifiers
Symbol(s)	HOXA1; BSAS; HOX1; HOX1F; MGC45232
External IDs	OMIM: 142955 MGI: 96170 Homologene: 4032
Gene ontology Molecular Function: • transcription factor activity • RNA polymerase II transcription factor activity • sequence-specific DNA binding Cellular Component: • nucleus Biological Process: • regulation of transcription from RNA polymerase II promoter • multicellular organismal development • nervous system development • anterior/posterior pattern formation • hindbrain development • inner ear morphogenesis
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	3198	15394
Ensembl	ENSG00000105991	ENSMUSG00000029844
Uniprot	P49639	Q8BNI8
Refseq	NM_005522 (mRNA) NP_005513 (protein)	NM_010449 (mRNA) NP_034579 (protein)
Location	Chr 7: 27.1 - 27.1 Mb	Chr 6: 52.08 - 52.09 Mb
Pubmed search	[1]	[2]

Homeobox A1, also known as HOXA1, is a human gene.

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 differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.

See also

• Homeobox

Further reading

• McAlpine PJ, Shows TB (1990). "Nomenclature for human homeobox genes.". Genomics 7 (3): 460. PMID 1973146.
• Chariot A, Moreau L, Senterre G, et al. (1995). "Retinoic acid induces three newly cloned HOXA1 transcripts in MCF7 breast cancer cells.". Biochem. Biophys. Res. Commun. 215 (2): 713-20. doi:10.1006/bbrc.1995.2522. PMID 7488013.
• Hong YS, Kim SY, Bhattacharya A, et al. (1995). "Structure and function of the HOX A1 human homeobox gene cDNA.". Gene 159 (2): 209-14. PMID 7622051.
• Apiou F, Flagiello D, Cillo C, et al. (1996). "Fine mapping of human HOX gene clusters.". Cytogenet. Cell Genet. 73 (1-2): 114-5. PMID 8646877.
• Studer M, Gavalas A, Marshall H, et al. (1998). "Genetic interactions between Hoxa1 and Hoxb1 reveal new roles in regulation of early hindbrain patterning.". Development 125 (6): 1025-36. PMID 9463349.
• Green NC, Rambaldi I, Teakles J, Featherstone MS (1998). "A conserved C-terminal domain in PBX increases DNA binding by the PBX homeodomain and is not a primary site of contact for the YPWM motif of HOXA1.". J. Biol. Chem. 273 (21): 13273-9. PMID 9582372.
• Barrow JR, Capecchi MR (1999). "Compensatory defects associated with mutations in Hoxa1 restore normal palatogenesis to Hoxa2 mutants.". Development 126 (22): 5011-26. PMID 10529419.
• Calvo R, West J, Franklin W, et al. (2001). "Altered HOX and WNT7A expression in human lung cancer.". Proc. Natl. Acad. Sci. U.S.A. 97 (23): 12776-81. doi:10.1073/pnas.97.23.12776. PMID 11070089.
• Ingram JL, Stodgell CJ, Hyman SL, et al. (2001). "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders.". Teratology 62 (6): 393-405. doi:<393::AID-TERA6>3.0.CO;2-V 10.1002/1096-9926(200012)62:6<393::AID-TERA6>3.0.CO;2-V. PMID 11091361.
• Li J, Tabor HK, Nguyen L, et al. (2002). "Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families.". Am. J. Med. Genet. 114 (1): 24-30. PMID 11840501.
• Kosaki K, Kosaki R, Suzuki T, et al. (2002). "Complete mutation analysis panel of the 39 human HOX genes.". Teratology 65 (2): 50-62. doi:10.1002/tera.10009. PMID 11857506.
• Devlin B, Bennett P, Cook EH, et al. (2003). "No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network.". Am. J. Med. Genet. 114 (6): 667-72. doi:10.1002/ajmg.10603. PMID 12210285.
• Rodier PM (2003). "Converging evidence for brain stem injury in autism.". Dev. Psychopathol. 14 (3): 537-57. PMID 12349873.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
• Zhang X, Zhu T, Chen Y, et al. (2003). "Human growth hormone-regulated HOXA1 is a human mammary epithelial oncogene.". J. Biol. Chem. 278 (9): 7580-90. doi:10.1074/jbc.M212050200. PMID 12482855.
• Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science 300 (5620): 767-72. doi:10.1126/science.1083423. PMID 12690205.
• Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157-64. doi:10.1038/nature01782. PMID 12853948.
• Conciatori M, Stodgell CJ, Hyman SL, et al. (2004). "Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.". Biol. Psychiatry 55 (4): 413-9. doi:10.1016/j.biopsych.2003.10.005. PMID 14960295.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
• Tischfield MA, Bosley TM, Salih MA, et al. (2005). "Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.". Nat. Genet. 37 (10): 1035-7. doi:10.1038/ng1636. PMID 16155570.

External links

• MeSH HOXA1+protein,+human

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