Protein-coding gene in the species Homo sapiens
Homeobox protein Hox-A13 is aprotein that in humans is encoded by theHOXA13 gene .[ 5] [ 6] [ 7]
In vertebrates, the genes encoding the class oftranscription factors calledhomeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated duringembryonic development . This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulategene expression ,morphogenesis , anddifferentiation .[ 7]
Clinical significance [ edit ] Expansion of a polyalanine tract in the encoded protein can causehand-foot-genital syndrome , also known as hand-foot-uterus syndrome.[ 8] HoxA13 gene products in theesophagus , provokesBarrett’s esophagus , a form ofmetaplasia that is a direct precursor toesophageal cancer .[ 9]
^a b c GRCh38: Ensembl release 89: ENSG00000106031 –Ensembl , May 2017^a b c GRCm38: Ensembl release 89: ENSMUSG00000038203 –Ensembl , May 2017^ "Human PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^ McAlpine PJ, Shows TB (July 1990). "Nomenclature for human homeobox genes".Genomics .7 (3): 460.doi :10.1016/0888-7543(90)90186-X .PMID 1973146 . ^ Scott MP (November 1992). "Vertebrate homeobox gene nomenclature".Cell .71 (4):551– 553.doi :10.1016/0092-8674(92)90588-4 .PMID 1358459 .S2CID 13370372 . ^a b "Entrez Gene: HOXA13 homeobox A13" .^ Innis JW (2006-07-11).Hand-Foot-Genital Syndrome PMID 20301596 . [dead link ^ Janmaat VT, Nesteruk K, Spaander MC, Verhaar AP, Yu B, Silva RA, et al. (June 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 . Goodman FR, Scambler PJ (January 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– 494.doi :10.1007/s00439-002-0712-8 .PMID 12073020 .S2CID 22181414 . Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, et al. (December 1989)."The human HOX gene family" .Nucleic Acids Research .17 (24):10385– 10402.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– 115.doi :10.1159/000134320 .PMID 8646877 . Mortlock DP, Innis JW (February 1997). "Mutation of HOXA13 in hand-foot-genital syndrome".Nature Genetics .15 (2):179– 180.doi :10.1038/ng0297-179 .PMID 9020844 .S2CID 24522600 . Sanger Centre, Washington University Genome Sequencing Center (November 1998)."Toward a complete human genome sequence" .Genome Research .8 (11):1097– 1108.doi :10.1101/gr.8.11.1097 PMID 9847074 . Post LC, Innis JW (December 1999)."Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures" .Biology of Reproduction .61 (6):1402– 1408.doi :10.1095/biolreprod61.6.1402 PMID 10569982 . de Stanchina E, Gabellini D, Norio P, Giacca M, Peverali FA, Riva S, et al. (June 2000). "Selection of homeotic proteins for binding to a human DNA replication origin".Journal of Molecular Biology .299 (3):667– 680.doi :10.1006/jmbi.2000.3782 .PMID 10835276 . Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, et al. (July 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 (August 2001)."Functional specificity of the Hoxa13 homeobox" .Development .128 (16):3197– 3207.doi :10.1242/dev.128.16.3197 PMID 11688568 . Fujino T, Suzuki A, Ito Y, Ohyashiki K, Hatano Y, Miura I, et al. (February 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– 1433.doi :10.1182/blood.V99.4.1428 PMID 11830496 . Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, et al. (February 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, et al. (May 2002)."A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome" .Human Mutation .19 (5):573– 574.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 (August 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– 443.doi :10.1002/gcc.10077 PMID 12112533 .S2CID 20992707 . Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR (November 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– 856.doi :10.1136/jmg.39.11.852 .PMC 1735011 PMID 12414828 . This article incorporates text from theUnited States National Library of Medicine , which is in thepublic domain .
(1) Basic domains
(1.1) Basic leucine zipper (bZIP )(1.2) Basic helix-loop-helix (bHLH )
Group A Group B Group CPAS Group D Group E Group F
(1.3) bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2.1) Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4)β-Scaffold factors with minor groove contacts
(0) Other transcription factors
