HOXA13

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Homeobox A13
Identifiers
Symbol(s) HOXA13; HOX1; HOX1J
External IDs OMIM: 142959 MGI: 96173 HomoloGene: 73882
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 3209 15398
Ensembl ENSG00000106031 ENSMUSG00000038203
Uniprot P31271 Q496R8
Refseq NM_000522 (mRNA)
NP_000513 (protein)		 XM_976525 (mRNA)
XP_981619 (protein)
Location Chr 7: 27.2 - 27.21 Mb Chr 6: 52.19 - 52.19 Mb
Pubmed search [1] [2]

Homeobox A13, also known as HOXA13, 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. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome.[1]

Contents

[edit] See also

[edit] References

  1. ^ a b Entrez Gene: HOXA13 homeobox A13.

[edit] Further reading

  • Goodman FR, Scambler PJ (2001). "Human HOX gene mutations.". Clin. Genet. 59 (1): 1-11. PMID 11206481. 
  • Utsch B, Becker K, Brock D, et al. (2002). "A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?". Hum. Genet. 110 (5): 488-94. doi:10.1007/s00439-002-0712-8. PMID 12073020. 
  • Scott MP (1992). "Vertebrate homeobox gene nomenclature.". Cell 71 (4): 551-3. PMID 1358459. 
  • McAlpine PJ, Shows TB (1990). "Nomenclature for human homeobox genes.". Genomics 7 (3): 460. PMID 1973146. 
  • Acampora D, D'Esposito M, Faiella A, et al. (1990). "The human HOX gene family.". Nucleic Acids Res. 17 (24): 10385-402. PMID 2574852. 
  • 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. 
  • Mortlock DP, Innis JW (1997). "Mutation of HOXA13 in hand-foot-genital syndrome.". Nat. Genet. 15 (2): 179-80. doi:10.1038/ng0297-179. PMID 9020844. 
  • "Toward a complete human genome sequence." (1999). Genome Res. 8 (11): 1097-108. PMID 9847074. 
  • Post LC, Innis JW (1999). "Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures.". Biol. Reprod. 61 (6): 1402-8. PMID 10569982. 
  • de Stanchina E, Gabellini D, Norio P, et al. (2000). "Selection of homeotic proteins for binding to a human DNA replication origin.". J. Mol. Biol. 299 (3): 667-80. doi:10.1006/jmbi.2000.3782. PMID 10835276. 
  • Goodman FR, Bacchelli C, Brady AF, et al. (2000). "Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.". Am. J. Hum. Genet. 67 (1): 197-202. PMID 10839976. 
  • Zhao Y, Potter SS (2001). "Functional specificity of the Hoxa13 homeobox.". Development 128 (16): 3197-207. PMID 11688568. 
  • Fujino T, Suzuki A, Ito Y, et al. (2002). "Single-translocation and double-chimeric transcripts: detection of NUP98-HOXA9 in myeloid leukemias with HOXA11 or HOXA13 breaks of the chromosomal translocation t(7;11)(p15;p15).". Blood 99 (4): 1428-33. PMID 11830496. 
  • 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. 
  • Innis JW, Goodman FR, Bacchelli C, et al. (2002). "A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.". Hum. Mutat. 19 (5): 573-4. doi:10.1002/humu.9036. PMID 11968094. 
  • Taketani T, Taki T, Ono R, et al. (2002). "The chromosome translocation t(7;11)(p15;p15) in acute myeloid leukemia results in fusion of the NUP98 gene with a HOXA cluster gene, HOXA13, but not HOXA9.". Genes Chromosomes Cancer 34 (4): 437-43. doi:10.1002/gcc.10077. PMID 12112533. 
  • Debeer P, Bacchelli C, Scambler PJ, et al. (2002). "Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.". J. Med. Genet. 39 (11): 852-6. PMID 12414828. 
  • 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. 

[edit] External links

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

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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)
(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
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
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)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
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
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
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