HOXA13

HOXA13
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2L7Z
Identifiers
Aliases	HOXA13, HOX1, HOX1J, homeobox A13
External IDs	OMIM: 142959; MGI: 96173; HomoloGene: 73882; GeneCards: HOXA13; OMA:HOXA13 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p15.2 Start 27,193,503 bp[1] End 27,200,091 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 B3|6 25.41 cM Start 52,234,674 bp[2] End 52,237,788 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in canal of the cervix pancreatic ductal cell prostate seminal vesicula rectum vagina urinary bladder placenta urethra tibialis anterior muscle Top expressed in autopod skin phalanx of foot phalanx of finger urethra index finger outer renal medulla female urethra inner stripe of outer renal medulla urachus footplate More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process multicellular organism development skeletal system development regulation of transcription, DNA-templated transcription, DNA-templated regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 6: 52.23 – 52.24 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

• Homeobox

References

Further reading

External links

• GeneReviews/NCBI/NIH/UW entry on Hand-Foot-Genital Syndrome
• HOXA13+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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

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

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This page was last edited on 1 April 2024, at 17:56