HOXC5

HOXC5
Identifiers
Aliases	HOXC5, CP11, HOX3, HOX3D, homeobox C5
External IDs	OMIM: 142973; MGI: 96196; HomoloGene: 41296; GeneCards: HOXC5; OMA:HOXC5 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12q13.13 Start 54,033,050 bp End 54,035,361 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15 F3|15 58.07 cM Start 102,875,878 bp End 102,925,861 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad left uterine tube right ovary right uterine tube left ovary fundus body of stomach granulocyte popliteal artery tibial arteries Top expressed in thoracic vertebral column tail of embryo superior cervical ganglion urethra male urethra esophagus genital tubercle neural tube embryo paraxial mesoderm More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity sequence-specific DNA binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding 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
Wikidata
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Homeobox protein Hox-C5 is a protein that in humans is encoded by the HOXC5 gene.

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.

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. 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 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.