HOXA13

Protein-coding gene in the species Homo sapiens

HOXA13
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2L7Z

Identifiers
AliasesHOXA13, HOX1, HOX1J, homeobox A13
External IDsOMIM: 142959; MGI: 96173; HomoloGene: 73882; GeneCards: HOXA13; OMA:HOXA13 - orthologs
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]
End27,200,091 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for HOXA13
Genomic location for HOXA13
Band6 B3|6 25.41 cMStart52,234,674 bp[2]
End52,237,788 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • testicle

  • canal of the cervix

  • pancreatic ductal cell

  • ectocervix

  • prostate

  • seminal vesicula

  • rectum

  • vagina

  • buccal mucosa cell

  • mucosa of colon
Top expressed in
  • genital tubercle

  • autopod skin

  • phalanx of foot

  • skin of foot

  • phalanx of finger

  • skin of hand

  • phalanx of third toe

  • phalanx of fourth toe

  • urethra

  • phalanx of little toe
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
SpeciesHumanMouse
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 MbChr 6: 52.23 – 52.24 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

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

References

  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:". 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 (July 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
  6. ^ 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.
  7. ^ a b "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, 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.

Further reading

  • 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.
  • 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.


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(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(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) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies
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