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
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

1. GRCh38: Ensembl release 89: ENSG00000106031 - Ensembl, May 2017
2. 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. "Entrez Gene: HOXA13 homeobox A13".
8. Innis JW (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. Bibcode:2021NatCo..12.3354J. doi: 10.1038/s41467-021-23641-8 . PMC   8184780 . PMID   34099670.

Further reading

• Goodman FR, Scambler PJ (Jan 2001). "Human HOX gene mutations". Clinical Genetics. 59 (1): 1–11. doi:10.1034/j.1399-0004.2001.590101.x. PMID   11206481. S2CID   38364372.
• Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M (May 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?". Human Genetics. 110 (5): 488–94. doi:10.1007/s00439-002-0712-8. PMID   12073020. S2CID   22181414.
• Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (Dec 1989). "The human HOX gene family". Nucleic Acids Research. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC   335308 . PMID   2574852.
• Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters". Cytogenetics and Cell Genetics. 73 (1–2): 114–5. doi:10.1159/000134320. PMID   8646877.
• Mortlock DP, Innis JW (Feb 1997). "Mutation of HOXA13 in hand-foot-genital syndrome". Nature Genetics. 15 (2): 179–80. doi:10.1038/ng0297-179. PMID   9020844. S2CID   24522600.
• Sanger Centre T, Washington University Genome Sequencing Cente T (Nov 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi: 10.1101/gr.8.11.1097 . PMID   9847074.
• Post LC, Innis JW (Dec 1999). "Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures". Biology of Reproduction. 61 (6): 1402–8. doi: 10.1095/biolreprod61.6.1402 . PMID   10569982.
• de Stanchina E, Gabellini D, Norio P, Giacca M, Peverali FA, Riva S, Falaschi A, Biamonti G (Jun 2000). "Selection of homeotic proteins for binding to a human DNA replication origin". Journal of Molecular Biology. 299 (3): 667–80. doi:10.1006/jmbi.2000.3782. PMID   10835276.
• Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ (Jul 2000). "Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome". American Journal of Human Genetics. 67 (1): 197–202. doi:10.1086/302961. PMC   1287077 . PMID   10839976.
• Zhao Y, Potter SS (Aug 2001). "Functional specificity of the Hoxa13 homeobox". Development. 128 (16): 3197–207. doi: 10.1242/dev.128.16.3197 . PMID   11688568.
• Fujino T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I, Nakamura T (Feb 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. doi: 10.1182/blood.V99.4.1428 . PMID   11830496.
• Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (Feb 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, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE (May 2002). "A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome" (PDF). Human Mutation. 19 (5): 573–4. doi: 10.1002/humu.9036 . hdl:2027.42/35180. PMID   11968094. S2CID   26468280.
• Taketani T, Taki T, Ono R, Kobayashi Y, Ida K, Hayashi Y (Aug 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. S2CID   20992707.
• Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR (Nov 2002). "Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13". Journal of Medical Genetics. 39 (11): 852–6. doi:10.1136/jmg.39.11.852. PMC   1735011 . PMID   12414828.

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.