Protein-coding gene in the species Homo sapiens
HOXC4 |
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Identifiers |
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Aliases | HOXC4, HOX3, HOX3E, cp19, homeobox C4 |
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External IDs | OMIM: 142974; MGI: 96195; HomoloGene: 8408; GeneCards: HOXC4; OMA:HOXC4 - orthologs |
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Gene location (Human) |
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![Chromosome 12 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/e/e7/Ideogram_human_chromosome_12.svg/300px-Ideogram_human_chromosome_12.svg.png) | Chr. | Chromosome 12 (human)[1] |
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| Band | 12q13.13 | Start | 54,016,931 bp[1] |
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End | 54,056,030 bp[1] |
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Gene location (Mouse) |
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![Chromosome 15 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/1/13/Ideogram_house_mouse_chromosome_15.svg/260px-Ideogram_house_mouse_chromosome_15.svg.png) | Chr. | Chromosome 15 (mouse)[2] |
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| Band | 15 F3|15 58.08 cM | Start | 102,927,366 bp[2] |
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End | 102,945,278 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - right uterine tube
- vena cava
- renal medulla
- saphenous vein
- pons
- left uterine tube
- tibial arteries
- caput epididymis
- testicle
- spinal ganglia
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| Top expressed in | - superior cervical ganglion
- tail of embryo
- efferent ductule
- dermis
- abdominal wall
- somite
- esophagus
- epididymis
- cumulus cell
- migratory enteric neural crest cell
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| More reference expression data |
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BioGPS | ![](//upload.wikimedia.org/wikipedia/commons/thumb/6/6a/PBB_GE_HOXC4_206194_at_fs.png/250px-PBB_GE_HOXC4_206194_at_fs.png) | More reference expression data |
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Gene ontology |
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Molecular function | - DNA-binding transcription factor activity
- sequence-specific DNA binding
- HMG box domain binding
- DNA binding
- protein binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
| Cellular component | | Biological process | - multicellular organism development
- skeletal system development
- cartilage development
- regulation of transcription, DNA-templated
- embryonic organ morphogenesis
- transcription, DNA-templated
- anterior/posterior pattern specification
- transcription by RNA polymerase II
- positive regulation of transcription by RNA polymerase II
- embryonic skeletal system morphogenesis
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | |
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NP_055435 NP_705897 NP_055435.2 NP_705897.1 |
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Location (UCSC) | Chr 12: 54.02 – 54.06 Mb | Chr 15: 102.93 – 102.95 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Homeobox protein Hox-C4 is a protein that in humans is encoded by the HOXC4 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, HOXC4, 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 that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons.[7]
See also
Interactions
HOXC4 has been shown to interact with Ku70.[8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000198353 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000075394 – 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 (Aug 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
- ^ Scott MP (Dec 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459. S2CID 13370372.
- ^ a b "Entrez Gene: HOXC4 homeobox C4".
- ^ Schild-Poulter C, Pope L, Giffin W, Kochan JC, Ngsee JK, Traykova-Andonova M, Haché RJ (May 2001). "The binding of Ku antigen to homeodomain proteins promotes their phosphorylation by DNA-dependent protein kinase". J. Biol. Chem. 276 (20): 16848–56. doi:10.1074/jbc.M100768200. PMID 11279128.
Further reading
- Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (1989). "The human HOX gene family". Nucleic Acids Res. 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 (1989). "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 (1986). "Cognate homeo-box loci mapped on homologous human and mouse chromosomes". Proc. Natl. Acad. Sci. U.S.A. 83 (23): 9104–8. Bibcode:1986PNAS...83.9104R. doi:10.1073/pnas.83.23.9104. PMC 387083. PMID 2878432.
- Simeone A, Pannese M, Acampora D, D'Esposito M, Boncinelli E (1988). "At least three human homeoboxes on chromosome 12 belong to the same transcription unit". Nucleic Acids Res. 16 (12): 5379–90. doi:10.1093/nar/16.12.5379. PMC 336773. PMID 2898768.
- Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH, Kirkness EF, Weinstock KG, Gocayne JD, White O (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
- Meazza R, Faiella A, Corsetti MT, Airoldi I, Ferrini S, Boncinelli E, Corte G (1995). "Expression of HOXC4 homeoprotein in the nucleus of activated human lymphocytes". Blood. 85 (8): 2084–90. doi:10.1182/blood.V85.8.2084.bloodjournal8582084. PMID 7718879.
- Rieger E, Bijl JJ, van Oostveen JW, Soyer HP, Oudejans CB, Jiwa NM, Walboomers JM, Meijer CJ (1994). "Expression of the homeobox gene HOXC4 in keratinocytes of normal skin and epithelial skin tumors is correlated with differentiation". J. Invest. Dermatol. 103 (3): 341–6. doi:10.1111/1523-1747.ep12394888. PMID 7915745.
- Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters". Cytogenet. Cell Genet. 73 (1–2): 114–5. doi:10.1159/000134320. PMID 8646877.
- Bijl JJ, Rieger E, van Oostveen JW, Walboomers JM, Kreike M, Willemze R, Meijer CJ (1997). "HOXC4, HOXC5, and HOXC6 expression in primary cutaneous lymphoid lesions. High expression of HOXC5 in anaplastic large-cell lymphomas". Am. J. Pathol. 151 (4): 1067–74. PMC 1858029. PMID 9327740.
- Schild-Poulter C, Pope L, Giffin W, Kochan JC, Ngsee JK, Traykova-Andonova M, Haché RJ (2001). "The binding of Ku antigen to homeodomain proteins promotes their phosphorylation by DNA-dependent protein kinase". J. Biol. Chem. 276 (20): 16848–56. doi:10.1074/jbc.M100768200. PMID 11279128.
- Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.
- Schaffer A, Kim EC, Wu X, Zan H, Testoni L, Salamon S, Cerutti A, Casali P (2003). "Selective inhibition of class switching to IgG and IgE by recruitment of the HoxC4 and Oct-1 homeodomain proteins and Ku70/Ku86 to newly identified ATTT cis-elements". J. Biol. Chem. 278 (25): 23141–50. doi:10.1074/jbc.M212952200. PMID 12672812.
- Kim EC, Edmonston CR, Wu X, Schaffer A, Casali P (2004). "The HoxC4 homeodomain protein mediates activation of the immunoglobulin heavy chain 3' hs1,2 enhancer in human B cells. Relevance to class switch DNA recombination". J. Biol. Chem. 279 (40): 42258–69. doi:10.1074/jbc.M407496200. PMC 4631311. PMID 15252056.
- Speleman F, Cauwelier B, Dastugue N, Cools J, Verhasselt B, Poppe B, Van Roy N, Vandesompele J, Graux C, Uyttebroeck A, Boogaerts M, De Moerloose B, Benoit Y, Selleslag D, Billiet J, Robert A, Huguet F, Vandenberghe P, De Paepe A, Marynen P, Hagemeijer A (2005). "A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias". Leukemia. 19 (3): 358–66. doi:10.1038/sj.leu.2403657. hdl:1854/LU-349753. PMID 15674412.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Wissmüller S, Kosian T, Wolf M, Finzsch M, Wegner M (2006). "The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors". Nucleic Acids Res. 34 (6): 1735–44. doi:10.1093/nar/gkl105. PMC 1421504. PMID 16582099.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
(1) Basic domains |
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(1.1) Basic leucine zipper (bZIP) | |
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(1.2) Basic helix-loop-helix (bHLH) | Group A | |
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Group B | |
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Group C bHLH-PAS | |
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Group D | |
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Group E | |
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Group F bHLH-COE | |
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(1.3) bHLH-ZIP | |
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(1.4) NF-1 | |
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(1.5) RF-X | |
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(1.6) Basic helix-span-helix (bHSH) | |
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(2) Zinc finger DNA-binding domains |
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(2.1) Nuclear receptor (Cys4) | subfamily 1 | |
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subfamily 2 | |
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subfamily 3 | |
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subfamily 4 | |
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subfamily 5 | |
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subfamily 6 | |
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subfamily 0 | |
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(2.2) Other Cys4 | |
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(2.3) Cys2His2 | |
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(2.4) Cys6 | |
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(2.5) Alternating composition | |
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(2.6) WRKY | |
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(4) β-Scaffold factors with minor groove contacts |
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(0) Other transcription factors |
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see also transcription factor/coregulator deficiencies |
![Stub icon](//upload.wikimedia.org/wikipedia/commons/thumb/6/61/DNA_stub.png/40px-DNA_stub.png) | This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it. |