Protein-coding gene in the species Homo sapiens
RFC2 |
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Identifiers |
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Aliases | RFC2, RFC40, replication factor C subunit 2 |
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External IDs | OMIM: 600404; MGI: 1341868; HomoloGene: 6885; GeneCards: RFC2; OMA:RFC2 - orthologs |
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Gene location (Human) |
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![Chromosome 7 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/9/99/Ideogram_human_chromosome_7.svg/300px-Ideogram_human_chromosome_7.svg.png) | Chr. | Chromosome 7 (human)[1] |
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| Band | 7q11.23 | Start | 74,231,499 bp[1] |
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End | 74,254,458 bp[1] |
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Gene location (Mouse) |
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![Chromosome 5 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/c/c0/Ideogram_house_mouse_chromosome_5.svg/260px-Ideogram_house_mouse_chromosome_5.svg.png) | Chr. | Chromosome 5 (mouse)[2] |
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| Band | 5 G2|5 74.68 cM | Start | 134,610,220 bp[2] |
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End | 134,630,659 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - ventricular zone
- ganglionic eminence
- gonad
- monocyte
- granulocyte
- muscle of thigh
- testicle
- skin of leg
- mucosa of transverse colon
- skin of abdomen
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| Top expressed in | - spermatid
- spermatocyte
- ventricular zone
- seminiferous tubule
- granulocyte
- fetal liver hematopoietic progenitor cell
- embryo
- epiblast
- abdominal wall
- embryo
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| More reference expression data |
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BioGPS | ![](//upload.wikimedia.org/wikipedia/commons/thumb/a/a5/PBB_GE_RFC2_1053_at_fs.png/250px-PBB_GE_RFC2_1053_at_fs.png)
![](//upload.wikimedia.org/wikipedia/commons/thumb/2/2c/PBB_GE_RFC2_203696_s_at_fs.png/250px-PBB_GE_RFC2_203696_s_at_fs.png) | More reference expression data |
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Gene ontology |
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Molecular function | - nucleotide binding
- DNA binding
- single-stranded DNA helicase activity
- protein binding
- enzyme binding
- ATP binding
- DNA clamp loader activity
| Cellular component | - DNA replication factor C complex
- Ctf18 RFC-like complex
- nucleoplasm
- nucleus
| Biological process | - nucleotide-excision repair, DNA gap filling
- error-free translesion synthesis
- error-prone translesion synthesis
- DNA replication
- positive regulation of DNA-directed DNA polymerase activity
- translesion synthesis
- transcription-coupled nucleotide-excision repair
- nucleotide-excision repair, DNA incision
- nucleotide-excision repair, DNA incision, 5'-to lesion
- DNA repair
- telomere maintenance via semi-conservative replication
- DNA-dependent DNA replication
- regulation of signal transduction by p53 class mediator
| 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_001278791 NM_001278792 NM_001278793 NM_002914 NM_181471 |
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RefSeq (protein) | NP_001265720 NP_001265721 NP_001265722 NP_002905 NP_852136
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NP_002905.2 |
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Location (UCSC) | Chr 7: 74.23 – 74.25 Mb | Chr 5: 134.61 – 134.63 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Replication factor C subunit 2 is a protein that in humans is encoded by the RFC2 gene.[5][6][7]
Function
The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also called activator 1, is a protein complex consisting of five distinct subunits of 145, 40, 38, 37, and 36.5 kD. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP. Deletion of this gene has been associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described.[7]
Interactions
RFC2 has been shown to interact with BRD4,[8] CHTF18,[9][10] PCNA,[11][12][13] RFC4[11][14] and RFC5.[11][14]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000049541 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023104 – 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.
- ^ Chen M, Pan ZQ, Hurwitz J (Apr 1992). "Sequence and expression in Escherichia coli of the 40-kDa subunit of activator 1 (replication factor C) of HeLa cells". Proceedings of the National Academy of Sciences of the United States of America. 89 (7): 2516–20. Bibcode:1992PNAS...89.2516C. doi:10.1073/pnas.89.7.2516. PMC 48692. PMID 1313560.
- ^ Okumura K, Nogami M, Taguchi H, Dean FB, Chen M, Pan ZQ, Hurwitz J, Shiratori A, Murakami Y, Ozawa K (Jan 1995). "Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23". Genomics. 25 (1): 274–8. doi:10.1016/0888-7543(95)80135-9. PMID 7774928.
- ^ a b "Entrez Gene: RFC2 replication factor C (activator 1) 2, 40kDa".
- ^ Maruyama T, Farina A, Dey A, Cheong J, Bermudez VP, Tamura T, Sciortino S, Shuman J, Hurwitz J, Ozato K (Sep 2002). "A Mammalian bromodomain protein, brd4, interacts with replication factor C and inhibits progression to S phase". Molecular and Cellular Biology. 22 (18): 6509–20. doi:10.1128/MCB.22.18.6509-6520.2002. PMC 135621. PMID 12192049.
- ^ Bermudez VP, Maniwa Y, Tappin I, Ozato K, Yokomori K, Hurwitz J (Sep 2003). "The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA". Proceedings of the National Academy of Sciences of the United States of America. 100 (18): 10237–42. Bibcode:2003PNAS..10010237B. doi:10.1073/pnas.1434308100. PMC 193545. PMID 12930902.
- ^ Merkle CJ, Karnitz LM, Henry-Sánchez JT, Chen J (Aug 2003). "Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment". The Journal of Biological Chemistry. 278 (32): 30051–6. doi:10.1074/jbc.M211591200. PMID 12766176.
- ^ a b c Cai J, Gibbs E, Uhlmann F, Phillips B, Yao N, O'Donnell M, Hurwitz J (Jul 1997). "A complex consisting of human replication factor C p40, p37, and p36 subunits is a DNA-dependent ATPase and an intermediate in the assembly of the holoenzyme". The Journal of Biological Chemistry. 272 (30): 18974–81. doi:10.1074/jbc.272.30.18974. PMID 9228079.
- ^ Pan ZQ, Chen M, Hurwitz J (Jan 1993). "The subunits of activator 1 (replication factor C) carry out multiple functions essential for proliferating-cell nuclear antigen-dependent DNA synthesis". Proceedings of the National Academy of Sciences of the United States of America. 90 (1): 6–10. Bibcode:1993PNAS...90....6P. doi:10.1073/pnas.90.1.6. PMC 45588. PMID 8093561.
- ^ Ohta S, Shiomi Y, Sugimoto K, Obuse C, Tsurimoto T (Oct 2002). "A proteomics approach to identify proliferating cell nuclear antigen (PCNA)-binding proteins in human cell lysates. Identification of the human CHL12/RFCs2-5 complex as a novel PCNA-binding protein". The Journal of Biological Chemistry. 277 (43): 40362–7. doi:10.1074/jbc.M206194200. PMID 12171929.
- ^ a b Cai J, Yao N, Gibbs E, Finkelstein J, Phillips B, O'Donnell M, Hurwitz J (Sep 1998). "ATP hydrolysis catalyzed by human replication factor C requires participation of multiple subunits". Proceedings of the National Academy of Sciences of the United States of America. 95 (20): 11607–12. Bibcode:1998PNAS...9511607C. doi:10.1073/pnas.95.20.11607. PMC 21688. PMID 9751713.
Further reading
- Pan ZQ, Chen M, Hurwitz J (Jan 1993). "The subunits of activator 1 (replication factor C) carry out multiple functions essential for proliferating-cell nuclear antigen-dependent DNA synthesis". Proceedings of the National Academy of Sciences of the United States of America. 90 (1): 6–10. Bibcode:1993PNAS...90....6P. doi:10.1073/pnas.90.1.6. PMC 45588. PMID 8093561.
- Peoples R, Perez-Jurado L, Wang YK, Kaplan P, Francke U (Jun 1996). "The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion". American Journal of Human Genetics. 58 (6): 1370–3. PMC 1915059. PMID 8651315.
- Uhlmann F, Cai J, Flores-Rozas H, Dean FB, Finkelstein J, O'Donnell M, Hurwitz J (Jun 1996). "In vitro reconstitution of human replication factor C from its five subunits". Proceedings of the National Academy of Sciences of the United States of America. 93 (13): 6521–6. Bibcode:1996PNAS...93.6521U. doi:10.1073/pnas.93.13.6521. PMC 39056. PMID 8692848.
- Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HH, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC (Sep 1996). "Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients". Genomics. 36 (2): 328–36. doi:10.1006/geno.1996.0469. PMID 8812460.
- Cujec TP, Cho H, Maldonado E, Meyer J, Reinberg D, Peterlin BM (Apr 1997). "The human immunodeficiency virus transactivator Tat interacts with the RNA polymerase II holoenzyme". Molecular and Cellular Biology. 17 (4): 1817–23. doi:10.1128/MCB.17.4.1817. PMC 232028. PMID 9121429.
- Cai J, Gibbs E, Uhlmann F, Phillips B, Yao N, O'Donnell M, Hurwitz J (Jul 1997). "A complex consisting of human replication factor C p40, p37, and p36 subunits is a DNA-dependent ATPase and an intermediate in the assembly of the holoenzyme". The Journal of Biological Chemistry. 272 (30): 18974–81. doi:10.1074/jbc.272.30.18974. PMID 9228079.
- Ellison V, Stillman B (Mar 1998). "Reconstitution of recombinant human replication factor C (RFC) and identification of an RFC subcomplex possessing DNA-dependent ATPase activity". The Journal of Biological Chemistry. 273 (10): 5979–87. doi:10.1074/jbc.273.10.5979. PMID 9488738.
- Zhang G, Gibbs E, Kelman Z, O'Donnell M, Hurwitz J (Mar 1999). "Studies on the interactions between human replication factor C and human proliferating cell nuclear antigen". Proceedings of the National Academy of Sciences of the United States of America. 96 (5): 1869–74. Bibcode:1999PNAS...96.1869Z. doi:10.1073/pnas.96.5.1869. PMC 26703. PMID 10051561.
- Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J (Apr 2000). "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures". Genes & Development. 14 (8): 927–39. doi:10.1101/gad.14.8.927. PMC 316544. PMID 10783165.
- Martindale DW, Wilson MD, Wang D, Burke RD, Chen X, Duronio V, Koop BF (Oct 2000). "Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23". Mammalian Genome. 11 (10): 890–8. doi:10.1007/s003350010166. PMID 11003705. S2CID 8575994.
- Griffith JD, Lindsey-Boltz LA, Sancar A (May 2002). "Structures of the human Rad17-replication factor C and checkpoint Rad 9-1-1 complexes visualized by glycerol spray/low voltage microscopy". The Journal of Biological Chemistry. 277 (18): 15233–6. doi:10.1074/jbc.C200129200. PMID 11907025.
- Nieborowska-Skorska M, Hoser G, Kossev P, Wasik MA, Skorski T (Jun 2002). "Complementary functions of the antiapoptotic protein A1 and serine/threonine kinase pim-1 in the BCR/ABL-mediated leukemogenesis". Blood. 99 (12): 4531–9. doi:10.1182/blood.V99.12.4531. PMID 12036885.
- Ohta S, Shiomi Y, Sugimoto K, Obuse C, Tsurimoto T (Oct 2002). "A proteomics approach to identify proliferating cell nuclear antigen (PCNA)-binding proteins in human cell lysates. Identification of the human CHL12/RFCs2-5 complex as a novel PCNA-binding protein". The Journal of Biological Chemistry. 277 (43): 40362–7. doi:10.1074/jbc.M206194200. PMID 12171929.
- Maruyama T, Farina A, Dey A, Cheong J, Bermudez VP, Tamura T, Sciortino S, Shuman J, Hurwitz J, Ozato K (Sep 2002). "A Mammalian bromodomain protein, brd4, interacts with replication factor C and inhibits progression to S phase". Molecular and Cellular Biology. 22 (18): 6509–20. doi:10.1128/MCB.22.18.6509-6520.2002. PMC 135621. PMID 12192049.
- Merkle CJ, Karnitz LM, Henry-Sánchez JT, Chen J (Aug 2003). "Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment". The Journal of Biological Chemistry. 278 (32): 30051–6. doi:10.1074/jbc.M211591200. PMID 12766176.
- Bermudez VP, Maniwa Y, Tappin I, Ozato K, Yokomori K, Hurwitz J (Sep 2003). "The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA". Proceedings of the National Academy of Sciences of the United States of America. 100 (18): 10237–42. Bibcode:2003PNAS..10010237B. doi:10.1073/pnas.1434308100. PMC 193545. PMID 12930902.