Protein-coding gene in the species Homo sapiens
| RAD51B |
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| Identifiers |
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| Aliases | RAD51B, R51H2, RAD51L1, REC2, RAD51 paralog B |
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| External IDs | OMIM: 602948 MGI: 1099436 HomoloGene: 50190 GeneCards: RAD51B |
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| Gene location (Human) |
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 | | Chr. | Chromosome 14 (human)[1] |
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| | Band | 14q24.1 | Start | 67,819,779 bp[1] |
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| End | 68,730,218 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 12 (mouse)[2] |
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| | Band | 12|12 C3 | Start | 79,297,282 bp[2] |
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| End | 79,814,690 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - sural nerve
- secondary oocyte
- Achilles tendon
- gallbladder
- corpus callosum
- minor salivary glands
- monocyte
- thymus
- bone marrow cells
- smooth muscle tissue
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| | Top expressed in | - spermatid
- cumulus cell
- morula
- blastocyst
- uterus
- yolk sac
- oocyte
- cervix
- secondary oocyte
- seminiferous tubule
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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
- nucleotide binding
- ATP-dependent activity, acting on DNA
- DNA strand exchange activity
- single-stranded DNA binding
- protein binding
- four-way junction DNA binding
- double-stranded DNA binding
- endodeoxyribonuclease activity
- ATP binding
| | Cellular component | - replication fork
- nucleoplasm
- Rad51B-Rad51C-Rad51D-XRCC2 complex
- nucleus
| | Biological process | - strand invasion
- response to ionizing radiation
- reciprocal meiotic recombination
- DNA recombination
- blood coagulation
- cellular response to DNA damage stimulus
- positive regulation of G2/M transition of mitotic cell cycle
- mitotic recombination
- DNA repair
- meiotic DNA recombinase assembly
- double-strand break repair via homologous recombination
| | 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) | NM_002877
NM_133509
NM_133510
NM_001321809
NM_001321810
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NM_001321812
NM_001321814
NM_001321815
NM_001321817
NM_001321818
NM_001321819
NM_001321821 |
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| RefSeq (protein) | NP_001308738
NP_001308739
NP_001308741
NP_001308743
NP_001308744
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NP_001308746
NP_001308747
NP_001308748
NP_001308750
NP_002868
NP_598193
NP_598194 |
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| Location (UCSC) | Chr 14: 67.82 – 68.73 Mb | Chr 12: 79.3 – 79.81 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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DNA repair protein RAD51 homolog 2 is a protein that in humans is encoded by the RAD51L1 gene.[5][6][7]
Function
The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed.[7]
Interactions
RAD51L1 has been shown to interact with RAD51C.[8][9][10]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000182185 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000059060 – 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.
- ^ Rapp UR, Marshall TH (1980). "Cell surface receptors for endogenous mouse type C viral glycoproteins and epidermal growth factor: tissue distribution in vivo and possible participation in specific cell-cell interaction". J. Supramol. Struct. 14 (3): 343–52. doi:10.1002/jss.400140308. PMID 6261043.
- ^ Rice MC, Smith ST, Bullrich F, Havre P, Kmiec EB (August 1997). "Isolation of human and mouse genes based on homology to REC2, a recombinational repair gene from the fungus Ustilago maydis". Proc. Natl. Acad. Sci. U.S.A. 94 (14): 7417–22. Bibcode:1997PNAS...94.7417R. doi:10.1073/pnas.94.14.7417. PMC 23836. PMID 9207106.
- ^ a b "Entrez Gene: RAD51L1 RAD51-like 1 (S. cerevisiae)".
- ^ Hussain S, Wilson JB, Medhurst AL, Hejna J, Witt E, Ananth S, Davies A, Masson JY, Moses R, West SC, de Winter JP, Ashworth A, Jones NJ, Mathew CG (June 2004). "Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways". Hum. Mol. Genet. 13 (12): 1241–8. doi:10.1093/hmg/ddh135. PMID 15115758.
- ^ Sigurdsson S, Van Komen S, Bussen W, Schild D, Albala JS, Sung P (Dec 2001). "Mediator function of the human Rad51B-Rad51C complex in Rad51/RPA-catalyzed DNA strand exchange". Genes Dev. 15 (24): 3308–18. doi:10.1101/gad.935501. PMC 312844. PMID 11751636.
- ^ Miller KA, Yoshikawa DM, McConnell IR, Clark R, Schild D, Albala JS (March 2002). "RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51". J. Biol. Chem. 277 (10): 8406–11. doi:10.1074/jbc.M108306200. PMID 11744692.
Further reading
- Dreikorn K, Röhl L (1974). "Preservation and transplantation of human cadaver kidneys. Experiences with the Gamgro perfusion unit". Scand. J. Urol. Nephrol. 8 (1): 19–26. doi:10.3109/00365597409132812. PMID 4595808.
- Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Albala JS, Thelen MP, Prange C, Fan W, Christensen M, Thompson LH, Lennon GG (1997). "Identification of a novel human RAD51 homolog, RAD51B". Genomics. 46 (3): 476–9. doi:10.1006/geno.1997.5062. PMID 9441753.
- Cartwright R, Dunn AM, Simpson PJ, Tambini CE, Thacker J (1998). "Isolation of novel human and mouse genes of the recA/RAD51 recombination-repair gene family". Nucleic Acids Res. 26 (7): 1653–9. doi:10.1093/nar/26.7.1653. PMC 147465. PMID 9512535.
- Havre PA, Rice MC, Noe M, Kmiec EB (1998). "The human REC2/RAD51B gene acts as a DNA damage sensor by inducing G1 delay and hypersensitivity to ultraviolet irradiation". Cancer Res. 58 (20): 4733–9. PMID 9788630.
- Peng L, Rice MC, Kmiec EB (1998). "Analysis of the human RAD51L1 promoter region and its activation by UV light". Genomics. 54 (3): 529–41. doi:10.1006/geno.1998.5536. PMID 9878257.
- Schoenmakers EF, Huysmans C, Van de Ven WJ (1999). "Allelic knockout of novel splice variants of human recombination repair gene RAD51B in t(12;14) uterine leiomyomas". Cancer Res. 59 (1): 19–23. PMID 9892177.
- Ingraham SE, Lynch RA, Kathiresan S, Buckler AJ, Menon AG (1999). "hREC2, a RAD51-like gene, is disrupted by t(12;14) (q15;q24.1) in a uterine leiomyoma". Cancer Genet. Cytogenet. 115 (1): 56–61. doi:10.1016/S0165-4608(99)00070-9. PMID 10565301.
- Takata M, Sasaki MS, Sonoda E, Fukushima T, Morrison C, Albala JS, Swagemakers SM, Kanaar R, Thompson LH, Takeda S (2000). "The Rad51 paralog Rad51B promotes homologous recombinational repair". Mol. Cell. Biol. 20 (17): 6476–82. doi:10.1128/MCB.20.17.6476-6482.2000. PMC 86122. PMID 10938124.
- Masson JY, Tarsounas MC, Stasiak AZ, Stasiak A, Shah R, McIlwraith MJ, Benson FE, West SC (2001). "Identification and purification of two distinct complexes containing the five RAD51 paralogs". Genes Dev. 15 (24): 3296–307. doi:10.1101/gad.947001. PMC 312846. PMID 11751635.
- Wiese C, Collins DW, Albala JS, Thompson LH, Kronenberg A, Schild D (2002). "Interactions involving the Rad51 paralogs Rad51C and XRCC3 in human cells". Nucleic Acids Res. 30 (4): 1001–8. doi:10.1093/nar/30.4.1001. PMC 100332. PMID 11842112.
- Liu N, Schild D, Thelen MP, Thompson LH (2002). "Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in human cells". Nucleic Acids Res. 30 (4): 1009–15. doi:10.1093/nar/30.4.1009. PMC 100342. PMID 11842113.
- Blank C, Schoenmakers EF, Rogalla P, Huys EH, van Rijk AA, Drieschner N, Bullerdiek J (2001). "Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma". Cytogenet. Cell Genet. 95 (1–2): 17–9. doi:10.1159/000057011. PMID 11978964. S2CID 6715664.
- Godthelp BC, Artwert F, Joenje H, Zdzienicka MZ (2002). "Impaired DNA damage-induced nuclear Rad51 foci formation uniquely characterizes Fanconi anemia group D1". Oncogene. 21 (32): 5002–5. doi:10.1038/sj.onc.1205656. PMID 12118380.
- Lio YC, Mazin AV, Kowalczykowski SC, Chen DJ (2003). "Complex formation by the human Rad51B and Rad51C DNA repair proteins and their activities in vitro". J. Biol. Chem. 278 (4): 2469–78. doi:10.1074/jbc.M211038200. PMID 12427746.
- Yokoyama H, Kurumizaka H, Ikawa S, Yokoyama S, Shibata T (2003). "Holliday junction binding activity of the human Rad51B protein". J. Biol. Chem. 278 (4): 2767–72. doi:10.1074/jbc.M210899200. PMID 12441335.
