HOXC5

HOXC5
Identifiers
Aliases	HOXC5 , CP11, HOX3, HOX3D, homeobox C5
External IDs	OMIM: 142973 MGI: 96196 HomoloGene: 41296 GeneCards: HOXC5
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q13.13 Start 54,033,050 bp [1] End 54,035,361 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15 F3|15 58.07 cM Start 102,875,878 bp [2] End 102,925,861 bp [2]
RNA expression pattern Bgee Top expressed in esophagus fallopian tube ovary body of stomach fundus subcutaneous adipose tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity sequence-specific DNA binding DNA binding GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Cellular component cell junction nucleus nucleoplasm Biological process regulation of transcription by RNA polymerase II multicellular organism development regulation of transcription, DNA-templated transcription, DNA-templated anterior/posterior pattern specification embryonic skeletal system development positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3222	15424
Ensembl	ENSG00000172789	ENSMUSG00000022485
UniProt	Q00444	P32043
RefSeq (mRNA)	NM_018953	NM_175730
RefSeq (protein)	NP_061826	NP_783857
Location (UCSC)	Chr 12: 54.03 – 54.04 Mb	Chr 15: 102.88 – 102.93 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein Hox-C5 is a protein that in humans is encoded by the HOXC5 gene. ^{[5] [6] [7]}

Function

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, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn't encode a protein. The protein-coding transcript variant contains gene-specific exons only. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000172789 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022485 - 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: HOXC5 homeobox C5".

Further reading

• Arcioni L, Simeone A, Guazzi S, Zappavigna V, Boncinelli E, Mavilio F (Jan 1992). "The upstream region of the human homeobox gene HOX3D is a target for regulation by retinoic acid and HOX homeoproteins". The EMBO Journal. 11 (1): 265–77. doi:10.1002/j.1460-2075.1992.tb05049.x. PMC   556447 . PMID   1346761.
• 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.
• Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A (1990). "Organization of human class I homeobox genes". Genome. 31 (2): 745–56. doi:10.1139/g89-133. PMID   2576652.
• Rabin M, Ferguson-Smith A, Hart CP, Ruddle FH (Dec 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): 9104–8. doi: 10.1073/pnas.83.23.9104 . PMC   387083 . PMID   2878432.
• Simeone A, Pannese M, Acampora D, D'Esposito M, Boncinelli E (Jun 1988). "At least three human homeoboxes on chromosome 12 belong to the same transcription unit". Nucleic Acids Research. 16 (12): 5379–90. doi:10.1093/nar/16.12.5379. PMC   336773 . PMID   2898768.
• Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R, Mavilio F (Jul 1994). "The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins". The EMBO Journal. 13 (14): 3339–47. doi:10.1002/j.1460-2075.1994.tb06636.x. PMC   395231 . PMID   7913891.
• 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.
• 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.

External links

• HOXC5+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.