HOXA13

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

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 52,257,694 bp[2] End 52,260,880 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cell nucleus Biological process • multicellular organism development • skeletal system development • regulation of transcription, DNA-templated • transcription, DNA-templated • regulation of transcription from RNA polymerase II promoter 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: 52.26 – 52.26 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

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.
7. "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

• 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.
• 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.
• 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.
• "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. Nov 1998. 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. 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. PMID 11968094.
• 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.
• 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 US 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.