HOXC13

HOXC13
Identifiers
Aliases	HOXC13, ECTD9, HOX3, HOX3G, homeobox C13
External IDs	OMIM: 142976; MGI: 99560; HomoloGene: 7770; GeneCards: HOXC13; OMA:HOXC13 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q13.13 Start 53,938,831 bp[1] End 53,946,544 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 F3|15 57.99 cM Start 102,829,538 bp[2] End 102,837,249 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in hair follicle gonad testicle skin of arm skin of leg skin of abdomen placenta popliteal artery tibial arteries female breast Top expressed in lip hair follicle filiform papilla tail of embryo skin of back skin of abdomen genital tubercle blastocyst stroma of bone marrow morula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process hair follicle development multicellular organism development nail development regulation of transcription, DNA-templated transcription by RNA polymerase II transcription, DNA-templated anterior/posterior pattern specification tongue morphogenesis positive regulation of transcription by RNA polymerase II anatomical structure morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3229 15422 Ensembl ENSG00000123364 ENSMUSG00000001655 UniProt P31276 P50207 RefSeq (mRNA) NM_017410 NM_010464 RefSeq (protein) NP_059106 NP_034594 Location (UCSC) Chr 12: 53.94 – 53.95 Mb Chr 15: 102.83 – 102.84 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein Hox-C13 is a protein that in humans is encoded by the HOXC13 gene.^[5][6][7]

Structure

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12.^[7]

HOXC13 is positioned toward the 5' end of the HOXC cluster.

Function

The product of this gene may play a role in the development of hair, nail, and filiform papilla.^[7]

HOX gene expression follows a principle called collinearity]: genes at the 3' end are expressed earlier and more anteriorly, while those at the 5' end are expressed in more posterior or distal structures.^[8] As a result, the HOXC13 gene is primarily involved in the development and differentiation of ectodermal structures rather than early axial patterning.

Clinical significance

Mutations in HOXC13 can lead to disruptions in the transcription factors the gene is associated with, particularly being linked to Pure hair-nail type ectodermal dysplasia.^[9] Research suggests that disruptions in mRNA decay are the root cause of a failure to properly develop hair follicles, nails, sebaceous glands, and other ectodermal structures. These effects are a result of a nonsense mutation in HOXC13 that codes for a protein without a C-terminal homeodomain and undergoes total loss-of-function. The mutation has no effects on any other organ systems and is limited to ectodermal structures.^[9]

See also

• Homeobox

References

1. GRCh38: Ensembl release 89: ENSG00000123364 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000001655 – 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. "Entrez Gene: HOXC13 homeobox C13".
8. Gaunt SJ (2015). "The significance of Hox gene collinearity". The International Journal of Developmental Biology. 59 (4–6): 159–170. doi:10.1387/ijdb.150223sg. PMID 26260684.
9. Lin Z, Chen Q, Shi L, Lee M, Giehl KA, Tang Z, et al. (November 2012). "Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia". American Journal of Human Genetics. 91 (5): 906–911. doi:10.1016/j.ajhg.2012.08.029. PMC 3487122. PMID 23063621.

Further reading

• Godwin AR, Capecchi MR (December 1999). "Hair defects in Hoxc13 mutant mice". The Journal of Investigative Dermatology. Symposium Proceedings. 4 (3): 244–247. doi:10.1038/sj.jidsp.5640221. PMID 10674376.
• Panagopoulos I, Isaksson M, Billström R, Strömbeck B, Mitelman F, Johansson B (January 2003). "Fusion of the NUP98 gene and the homeobox gene HOXC13 in acute myeloid leukemia with t(11;12)(p15;q13)". Genes, Chromosomes & Cancer. 36 (1): 107–112. doi:10.1002/gcc.10139. PMID 12461755. S2CID 43580734.
• 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.
• Rabin M, Ferguson-Smith A, Hart CP, Ruddle FH (December 1986). "Cognate homeo-box loci mapped on homologous human and mouse chromosomes". Proceedings of the National Academy of Sciences of the United States of America. 83 (23): 9104–9108. Bibcode:1986PNAS...83.9104R. doi:10.1073/pnas.83.23.9104. PMC 387083. PMID 2878432.
• 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.
• Flagiello D, Gibaud A, Dutrillaux B, Poupon MF, Malfoy B (October 1997). "Distinct patterns of all-trans retinoic acid dependent expression of HOXB and HOXC homeogenes in human embryonal and small-cell lung carcinoma cell lines". FEBS Letters. 415 (3): 263–267. Bibcode:1997FEBSL.415..263F. doi:10.1016/S0014-5793(97)01118-6. PMID 9357979. S2CID 26075369.
• 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.
• Kulessa H, Turk G, Hogan BL (December 2000). "Inhibition of Bmp signaling affects growth and differentiation in the anagen hair follicle". The EMBO Journal. 19 (24): 6664–6674. doi:10.1093/emboj/19.24.6664. PMC 305899. PMID 11118201.
• 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.
• Pruett ND, Tkatchenko TV, Jave-Suarez L, Jacobs DF, Potter CS, Tkatchenko AV, et al. (December 2004). "Krtap16, characterization of a new hair keratin-associated protein (KAP) gene complex on mouse chromosome 16 and evidence for regulation by Hoxc13". The Journal of Biological Chemistry. 279 (49): 51524–51533. doi:10.1074/jbc.M404331200. PMID 15385554.

External links

• HOXC13+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.