HOXA13
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHOXA13, HOX1, HOX1J, homeobox A13
External IDsOMIM: 142959 MGI: 96173 HomoloGene: 73882 GeneCards: HOXA13
Orthologs
SpeciesHumanMouse
Entrez

3209

15398

Ensembl

ENSG00000106031

ENSMUSG00000038203

UniProt

P31271

Q62424

RefSeq (mRNA)

NM_000522

NM_008264

RefSeq (protein)

NP_000513

NP_032290

Location (UCSC)Chr 7: 27.19 – 27.2 MbChr 6: 52.23 – 52.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13 gene.[5][6][7]

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 differentiation.[7]

Clinical significance

Expansion of a polyalanine tract in the encoded protein can cause hand-foot-genital syndrome, also known as hand-foot-uterus syndrome.[8] Aberrant expression of HoxA13 gene products in the esophagus, provokes Barrett’s esophagus, a form of metaplasia that is a direct precursor to esophageal cancer.[9]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000106031 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038203 - 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.
  5. McAlpine PJ, Shows TB (Jul 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
  6. Scott MP (Nov 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459. S2CID 13370372.
  7. 1 2 "Entrez Gene: HOXA13 homeobox A13".
  8. Innis, Jeffrey W (2006-07-11). Hand-Foot-Genital Syndrome. NCBI Bookshelf, GeneReviews. University of Washington, Seattle. PMID 20301596.
  9. Janmaat VT, Nesteruk K, Spaander MC, Verhaar AP, Yu B, Silva RA, Phillips WA, Magierowski M, van de Winkel A, Stadler HS, Sandoval-Guzmán T, van der Laan LJ, Kuipers EJ, Smits R, Bruno MJ, Fuhler GM, Clemons NJ, Peppelenbosch MP (Jun 2021). "HOXA13 in etiology and oncogenic potential of Barrett's esophagus". Nature Communications. 12 (1): 3354. doi:10.1038/s41467-021-23641-8. PMC 8184780. PMID 34099670.

Further reading

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


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