Protein-coding gene in the species Homo sapiens
C1D |
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Identifiers |
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Aliases | C1D, LRP1, SUN-CoR, SUNCOR, hRrp47, C1D nuclear receptor corepressor |
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External IDs | OMIM: 606997; MGI: 1927354; HomoloGene: 4619; GeneCards: C1D; OMA:C1D - orthologs |
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Gene location (Human) |
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![Chromosome 2 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/a/aa/Ideogram_human_chromosome_2.svg/300px-Ideogram_human_chromosome_2.svg.png) | Chr. | Chromosome 2 (human)[1] |
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| Band | 2p14 | Start | 68,041,130 bp[1] |
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End | 68,110,948 bp[1] |
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Gene location (Mouse) |
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![Chromosome 11 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/a/a5/Ideogram_house_mouse_chromosome_11.svg/260px-Ideogram_house_mouse_chromosome_11.svg.png) | Chr. | Chromosome 11 (mouse)[2] |
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| Band | 11|11 A2 | Start | 17,207,579 bp[2] |
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End | 17,219,176 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - islet of Langerhans
- monocyte
- bone marrow
- endometrium
- gastrocnemius muscle
- skeletal muscle tissue
- vagina
- right adrenal cortex
- lymph node
- olfactory zone of nasal mucosa
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| Top expressed in | - migratory enteric neural crest cell
- dorsomedial hypothalamic nucleus
- medial ganglionic eminence
- atrioventricular valve
- intercostal muscle
- lateral hypothalamus
- Gonadal ridge
- paraventricular nucleus of hypothalamus
- mammillary body
- endocardial cushion
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - DNA binding
- protein binding
- nuclear receptor binding
- transcription corepressor activity
- RNA binding
| Cellular component | - cytoplasm
- nuclear exosome (RNase complex)
- transcription repressor complex
- nucleolus
- nucleus
- nucleoplasm
| Biological process | - negative regulation of transcription, DNA-templated
- regulation of transcription, DNA-templated
- maturation of 5.8S rRNA
- transcription, DNA-templated
- apoptotic process
- rRNA processing
| 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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NM_173177 NM_001190263 NM_001190265 NM_006333 |
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RefSeq (protein) | |
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NP_001177192 NP_001177194 NP_006324 NP_775269 |
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Location (UCSC) | Chr 2: 68.04 – 68.11 Mb | Chr 11: 17.21 – 17.22 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Nuclear nucleic acid-binding protein C1D is a protein that in humans is encoded by the C1D gene.[5][6][7][8][9][10] The C1D protein is encoded by a DNA binding gene traced in the nucleus.[11] Protein C1D has a chromosomal location of 2p14.[12] C1D has a family of proteins consisting of C1D homologues which may include Sas10 domains.[13] C1D is thought to bind to RNA and DNA where it may be involved in mechanisms of DNA repair.[13] Protein C1D is ubiquitously expressed in different human tissues.[14]
Function
Despite inducing denaturing conditions, C1D shows high-affinity binding to DNA.[13] C1D has demonstrated capability to bind to DNA in DNA repair pathways.[13]
The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Protein C1D may have a protective effect against relation to the TRAX/Translin complex formation of DNA.[13] Several alternatively spliced transcript variants of this gene have been described, but the full length nature of some of these variants has not been determined.[10]
Interactions
C1D has been shown to interact with TSNAX[8] and DNA-PKcs.[15] C1D has also shown to interact notably in mammalian cells and yeast.[16] Interaction in mammalian cells only occur ensuing gamma-irradiation.[16]
Protein expression
The protein C1D is thought to be expressed ubiquitously.[14] It may be expressed in high levels in the mammary gland, thyroid gland, salivary gland, medulla oblongata, and hippocampus.[14] It may be expressed at lower levels in the appendix, heart, lungs, skeletal muscles, and colon.[14]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000197223 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000581 – 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.
- ^ Nehls P, Keck T, Greferath R, Spiess E, Glaser T, Rothbarth K, et al. (March 1998). "cDNA cloning, recombinant expression and characterization of polypetides with exceptional DNA affinity". Nucleic Acids Research. 26 (5): 1160–1166. doi:10.1093/nar/26.5.1160. PMC 147382. PMID 9469821.
- ^ Schilders G, Egberts WV, Raijmakers R, Pruijn GJ (July 2007). "C1D is a major autoantibody target in patients with the polymyositis-scleroderma overlap syndrome". Arthritis and Rheumatism. 56 (7): 2449–2454. doi:10.1002/art.22710. PMID 17599775.
- ^ Schilders G, van Dijk E, Pruijn GJ (May 2007). "C1D and hMtr4p associate with the human exosome subunit PM/Scl-100 and are involved in pre-rRNA processing". Nucleic Acids Research. 35 (8): 2564–2572. doi:10.1093/nar/gkm082. PMC 1885644. PMID 17412707.
- ^ a b Erdemir T, Bilican B, Oncel D, Goding CR, Yavuzer U (January 2002). "DNA damage-dependent interaction of the nuclear matrix protein C1D with Translin-associated factor X (TRAX)". Journal of Cell Science. 115 (Pt 1): 207–216. doi:10.1242/jcs.115.1.207. hdl:11693/24740. PMID 11801738.
- ^ Zamir I, Dawson J, Lavinsky RM, Glass CK, Rosenfeld MG, Lazar MA (December 1997). "Cloning and characterization of a corepressor and potential component of the nuclear hormone receptor repression complex". Proceedings of the National Academy of Sciences of the United States of America. 94 (26): 14400–14405. Bibcode:1997PNAS...9414400Z. doi:10.1073/pnas.94.26.14400. PMC 24996. PMID 9405624.
- ^ a b "Entrez Gene: C1D nuclear DNA-binding protein".
- ^ "C1D Gene - GeneCards | C1D Protein | C1D Antibody". www.genecards.org. Retrieved 2022-04-27.
- ^ "Gene symbol report | HUGO Gene Nomenclature Committee". www.genenames.org. Retrieved 2022-04-27.
- ^ a b c d e Jackson RA, Wu JS, Chen ES (2016-03-09). "C1D family proteins in coordinating RNA processing, chromosome condensation and DNA damage response". Cell Division. 11 (1): 2. doi:10.1186/s13008-016-0014-5. PMC 4812661. PMID 27030795.
- ^ a b c d "C1D - Nuclear nucleic acid-binding protein C1D - Homo sapiens (Human) - C1D gene & protein". www.uniprot.org. Retrieved 2022-04-27.
- ^ Yavuzer U, Smith GC, Bliss T, Werner D, Jackson SP (July 1998). "DNA end-independent activation of DNA-PK mediated via association with the DNA-binding protein C1D". Genes & Development. 12 (14): 2188–2199. doi:10.1101/gad.12.14.2188. PMC 317006. PMID 9679063.
- ^ a b Erdemir T, Bilican B, Oncel D, Goding CR, Yavuzer U (January 2002). "DNA damage-dependent interaction of the nuclear matrix protein C1D with Translin-associated factor X (TRAX)". Journal of Cell Science. 115 (Pt 1): 207–216. doi:10.1242/jcs.115.1.207. hdl:11693/24740. PMID 11801738.
Further reading
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- Rothbarth K, Stammer H, Werner D (September 2002). "Proteasome-mediated degradation antagonizes critical levels of the apoptosis-inducing C1D protein". Cancer Cell International. 2 (1): 12. doi:10.1186/1475-2867-2-12. PMC 140130. PMID 12379155.
- Rothbarth K, Hunziker A, Stammer H, Werner D (April 2001). "Promoter of the gene encoding the 16 kDa DNA-binding and apoptosis-inducing C1D protein". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1518 (3): 271–275. doi:10.1016/S0167-4781(01)00198-1. PMID 11311939.
- Rothbarth K, Spiess E, Juodka B, Yavuzer U, Nehls P, Stammer H, Werner D (July 1999). "Induction of apoptosis by overexpression of the DNA-binding and DNA-PK-activating protein C1D". Journal of Cell Science. 112 ( Pt 13) (13): 2223–2232. doi:10.1242/jcs.112.13.2223. hdl:11693/25220. PMID 10362552.
- Haataja L, Groffen J, Heisterkamp N (April 1998). "Identification of a novel Rac3-interacting protein C1D". International Journal of Molecular Medicine. 1 (4): 665–670. doi:10.3892/ijmm.1.4.665. PMID 9852280.
External links