HOXA1

From Wikipedia, the free encyclopedia

Homeobox A1

Identifiers

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

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.^[1]

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.^[1]

1 See also
2 References
3 Further reading
4 External links

[edit] See also

Homeobox

[edit] References

^ ^a ^b Entrez Gene: HOXA1 homeobox A1.

[edit] 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: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.

[edit] External links

MeSH HOXA1+protein,+human

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

This article on a gene on chromosome 7 is a stub. You can help Wikipedia by expanding it.

v • d • e

Transcription factors and intracellular receptors

(1) Basic domains

(1.1) Basic leucine zipper (bZIP)	Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1

(1.2) Basic helix-loop-helix (bHLH)	ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1

(1.3) bHLH-ZIP	MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)

(1.6) Basic helix-span-helix (bHSH)	AP-2

(2) Zinc finger
DNA-binding domains

(2.1) Nuclear receptor (Cys₄)	subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)

(2.2) Other Cys₄	GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)

(2.3) Cys₂His₂	ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)

(2.4) Cys₆	HIVEP1

(2.5) Alternating composition	AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B

(3) Helix-turn-helix
domains

(3.1) Homeo domain	ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1

(3.2) Paired box	PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)

(3.3) Fork head / winged helix	E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)

(3.4) Heat Shock Factors	HSF (1, 2, 4)

(3.5) Tryptophan clusters	ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2

(3.6) TEA domain	transcriptional enhancer factor 1, 2

(4) β-Scaffold factors with
minor groove contacts

(4.1) Rel homology region	NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)

(4.2) STAT	STAT (1, 2, 3, 4, 5, 6)

(4.3) p53	p53

(4.4) MADS box	Mef2 (A, B, C, D) • SRF

(4.7) High mobility group	HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1

(4.10) Cold-shock domain	CSDA, YBX1

(4.11) Runt	CBF (CBFA2T2, CBFA2T3, RUNX1, RUNX2, RUNX3, RUNX1T1)

(0) Other
transcription factors

(0.2) HMGI(Y)	HMGA (1, 2) • HBP1

(0.3) Pocket domain	Rb • RBL1 • RBL2

(0.5) AP-2/EREBP-related factors	Apetala 2 • EREBP • B3

(0.6) Miscellaneous	ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD