RAD51L1

RAD51B
Identifiers
Aliases	RAD51B, R51H2, RAD51L1, REC2, RAD51 paralog B
External IDs	OMIM: 602948; MGI: 1099436; HomoloGene: 50190; GeneCards: RAD51B; OMA:RAD51B - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q24.1 Start 67,819,779 bp[1] End 68,730,218 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 C3 Start 79,297,282 bp[2] End 79,814,690 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve buccal mucosa cell testicle secondary oocyte body of uterus ventricular zone Achilles tendon gallbladder corpus callosum epithelium of colon Top expressed in blastocyst zygote spermatid embryo morula cumulus cell embryo ventricular zone tail of embryo uterus More reference expression data BioGPS n/a
Gene ontology 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
Orthologs Species Human Mouse Entrez 5890 19363 Ensembl ENSG00000182185 ENSMUSG00000059060 UniProt O15315 O35719 RefSeq (mRNA) NM_002877 NM_133509 NM_133510 NM_001321809 NM_001321810 NM_001321812 NM_001321814 NM_001321815 NM_001321817 NM_001321818 NM_001321819 NM_001321821 NM_001252562 NM_009014 RefSeq (protein) NP_001308738 NP_001308739 NP_001308741 NP_001308743 NP_001308744 NP_001308746 NP_001308747 NP_001308748 NP_001308750 NP_002868 NP_598193 NP_598194 NP_001239491 NP_033040 Location (UCSC) Chr 14: 67.82 – 68.73 Mb Chr 12: 79.3 – 79.81 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

RAD51L1 is employed in the repair of DNA double-strand breaks.[8] Different polymorphisms of the RAD51L1 gene modulate sensitivity to gamma rays and also glioma risk.[8]

Interactions

RAD51L1 has been shown to interact with RAD51C.[9][10][11]

References

1. GRCh38: Ensembl release 89: ENSG00000182185 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000059060 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: RAD51L1 RAD51-like 1 (S. cerevisiae)".
8. Liu Y, Shete S, Wang LE, El-Zein R, Etzel CJ, Liang FW, Armstrong G, Tsavachidis S, Gilbert MR, Aldape KD, Xing J, Wu X, Wei Q, Bondy ML (October 2010). "Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk". Carcinogenesis. 31 (10): 1762–9. doi:10.1093/carcin/bgq141. PMC 2981459. PMID 20610542.
9. 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.
10. 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.
11. 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.