HOXA13

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
HOXA13
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHOXA13, HOX1, HOX1J, homeobox A13
External IDsMGI: 96173 HomoloGene: 73882 GeneCards: HOXA13
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for HOXA13
Genomic location for HOXA13
Band7p15.2Start27,193,503 bp[1]
End27,200,106 bp[1]
RNA expression pattern
PBB GE HOXA13 gnf1h00031 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000522

NM_008264

RefSeq (protein)

NP_000513

NP_032290

Location (UCSC)Chr 7: 27.19 – 27.2 MbChr 6: 52.26 – 52.26 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[edit]

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[edit]

Expansion of a polyalanine tract in the encoded protein can cause hand-foot-genital syndrome, also known as hand-foot-uterus syndrome.[8]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106031 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038203 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  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.
  7. ^ a b "Entrez Gene: HOXA13 homeobox A13".
  8. ^ Innis, Jeffrey W (2006-07-11). Hand-Foot-Genital Syndrome. NCBI Bookshelf, GeneReviews. University of Washington, Seattle.

Further reading[edit]

External links[edit]

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