O43502 (RA51C_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 114.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: DNA repair protein RAD51 homolog 3 Short name=R51H3 Alternative name(s): RAD51 homolog C RAD51-like protein 2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 376 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. The RAD51B-RAD51C dimer exhibits single-stranded DNA-dependent ATPase activity. The BCDX2 complex binds single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. Participates in branch migration and Holliday junction resolution and thus is important for processing HR intermediates late in the DNA repair process. Also has an early function in DNA repair in facilitating phosphorylation of the checkpoint kinase CHEK2 and thereby transduction of the damage signal, leading to cell cycle arrest and HR activation. Protects RAD51 from ubiquitin-mediated degradation that is enhanced following DNA damage. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and XRCC3. Contributes to DNA cross-link resistance, sister chromatid cohesion and genomic stability. Involved in maintaining centrosome number in mitosis. Ref.13 Ref.14 Ref.15 Ref.16 |
| Subunit structure | Interacts with RAD51B and XRCC3. Part of a BCDX2 complex consisting of RAD51B, RAD51C, RAD51D and XRCC2. Part of a complex consisting of RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3. Part of a complex with RAD51B and RAD51. Interacts with SWSAP1; involved in homologous recombination repair. Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.18 |
| Subcellular location | Nucleus. Cytoplasm. Cytoplasm › perinuclear region. Mitochondrion. Note: DNA damage induces an increase in nuclear levels. Accumulates in DNA damage induced nuclear foci or RAD51C foci which is formed during the S or G2 phase of cell cycle. Accumulation at DNA lesions requires the presence of NBN/NBS1, ATM and RPA. Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 |
| Tissue specificity | Expressed in a variety of tissues, with highest expression in testis, heart muscle, spleen and prostate. |
| Induction | Stress-induced increase in the mitochondrial levels is seen. Ref.16 |
| Involvement in disease | Fanconi anemia complementation group O (FANCO) [MIM:613390]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Familial breast-ovarian cancer 3 (BROVCA3) [MIM:613399]: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. |
| Sequence similarities | Belongs to the RecA family. RAD51 subfamily. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| SWSAP1 | Q6NVH7 | 2 | EBI-2267048,EBI-5281637 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O43502-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: O43502-2) The sequence of this isoform differs from the canonical sequence as follows: 135-135: C → W 136-376: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 376 | 376 | DNA repair protein RAD51 homolog 3 | PRO_0000122941 | |||||
Regions | |||||||||
| Nucleotide binding | 125 – 132 | 8 | ATP Potential | ||||||
| Motif | 366 – 370 | 5 | Nuclear localization signal Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 135 | 1 | C → W in isoform 2. | VSP_043656 | |||||
| Alternative sequence | 136 – 376 | 241 | Missing in isoform 2. | VSP_043657 | |||||
| Natural variant | 3 | 1 | G → R. Ref.20 | VAR_063837 | |||||
| Natural variant | 52 | 1 | I → L. Ref.21 | VAR_068014 | |||||
| Natural variant | 103 | 1 | Missing. Ref.21 | VAR_068015 | |||||
| Natural variant | 114 | 1 | G → V. Ref.21 | VAR_068016 | |||||
| Natural variant | 125 | 1 | G → V in BROVCA3. Ref.20 | VAR_063838 | |||||
| Natural variant | 126 | 1 | A → T. Ref.20 Ref.21 Corresponds to variant rs61758784 [ dbSNP | Ensembl ]. | VAR_063839 | |||||
| Natural variant | 138 | 1 | L → F in BROVCA3. Ref.20 | VAR_063840 | |||||
| Natural variant | 144 | 1 | I → T. Ref.2 Corresponds to variant rs28363307 [ dbSNP | Ensembl ]. | VAR_020518 | |||||
| Natural variant | 159 | 1 | D → N. Ref.20 | VAR_063841 | |||||
| Natural variant | 162 | 1 | G → E in BROVCA3. Ref.21 Corresponds to variant rs35151472 [ dbSNP | Ensembl ]. | VAR_068017 | |||||
| Natural variant | 169 | 1 | V → A. Ref.20 Ref.21 | VAR_063842 | |||||
| Natural variant | 175 | 1 | A → T. Ref.21 | VAR_068018 | |||||
| Natural variant | 178 | 1 | Q → P in BROVCA3. Ref.21 | VAR_068019 | |||||
| Natural variant | 249 | 1 | R → C. Ref.2 Ref.21 Corresponds to variant rs28363311 [ dbSNP | Ensembl ]. | VAR_020519 | |||||
| Natural variant | 258 | 1 | R → H in FANCO; possibly hypomorphic allele. Ref.19 | VAR_064032 | |||||
| Natural variant | 262 | 1 | L → V. Ref.21 Corresponds to variant rs149331537 [ dbSNP | Ensembl ]. | VAR_068020 | |||||
| Natural variant | 264 | 1 | G → S. Ref.20 Ref.21 Corresponds to variant rs147241704 [ dbSNP | Ensembl ]. | VAR_063843 | |||||
| Natural variant | 264 | 1 | G → V. Ref.20 | VAR_063844 | |||||
| Natural variant | 287 | 1 | T → A in BROVCA3. Ref.2 Ref.20 Ref.21 Corresponds to variant rs28363317 [ dbSNP | Ensembl ]. | VAR_020520 | |||||
| Natural variant | 366 | 1 | R → Q. Ref.20 | VAR_063845 | |||||
Experimental info | |||||||||
| Mutagenesis | 131 | 1 | K → A: Significant loss of function. Ref.12 | ||||||
| Mutagenesis | 131 | 1 | K → R: Partial loss of function. Ref.12 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Isolation and characterization of RAD51C, a new human member of the RAD51 family of related genes." Dosanjh M.K., Collins D.W., Fan W., Lennon G.G., Albala J.S., Shen Z., Schild D. Nucleic Acids Res. 26:1179-1184(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). |
| [2] | NIEHS SNPs program Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-144; CYS-249 AND ALA-287. |
| [3] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [6] | "Identification and purification of two distinct complexes containing the five RAD51 paralogs." Masson J.Y., Tarsounas M.C., Stasiak A.Z., Stasiak A., Shah R., McIlwraith M.J., Benson F.E., West S.C. Genes Dev. 15:3296-3307(2001) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH RAD51B; RAD51D AND XRCC2. |
| [7] | "Mediator function of the human Rad51B-Rad51C complex in Rad51/RPA-catalyzed DNA strand exchange." Sigurdsson S., Van Komen S., Bussen W., Schild D., Albala J.S., Sung P. Genes Dev. 15:3308-3318(2001) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH RAD51B. |
| [8] | "RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51." Miller K.A., Yoshikawa D.M., McConnell I.R., Clark R., Schild D., Albala J.S. J. Biol. Chem. 277:8406-8411(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH RAD51B; RAD51D; XRCC2 AND XRCC3. |
| [9] | "Interactions involving the Rad51 paralogs Rad51C and XRCC3 in human cells." Wiese C., Collins D.W., Albala J.S., Thompson L.H., Kronenberg A., Schild D. Nucleic Acids Res. 30:1001-1008(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH RAD51B; RAD51D AND XRCC2. |
| [10] | "Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in human cells." Liu N., Schild D., Thelen M.P., Thompson L.H. Nucleic Acids Res. 30:1009-1015(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH RAD51B; RAD51D AND XRCC2, INTERACTION WITH XRCC3. |
| [11] | "Complex formation by the human Rad51B and Rad51C DNA repair proteins and their activities in vitro." Lio Y.-C., Mazin A.V., Kowalczykowski S.C., Chen D.J. J. Biol. Chem. 278:2469-2478(2003) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH RAD51 AND RAD51B. |
| [12] | "Identification of functional domains in the RAD51L2 (RAD51C) protein and its requirement for gene conversion." French C.A., Tambini C.E., Thacker J. J. Biol. Chem. 278:45445-45450(2003) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-131. |
| [13] | "Cellular localization of human Rad51C and regulation of ubiquitin-mediated proteolysis of Rad51." Bennett B.T., Knight K.L. J. Cell. Biochem. 96:1095-1109(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION. |
| [14] | "Cellular redistribution of Rad51 in response to DNA damage: novel role for Rad51C." Gildemeister O.S., Sage J.M., Knight K.L. J. Biol. Chem. 284:31945-31952(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION. |
| [15] | "RAD51C facilitates checkpoint signaling by promoting CHK2 phosphorylation." Badie S., Liao C., Thanasoula M., Barber P., Hill M.A., Tarsounas M. J. Cell Biol. 185:587-600(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION. |
| [16] | "Discovery of a novel function for human Rad51: maintenance of the mitochondrial genome." Sage J.M., Gildemeister O.S., Knight K.L. J. Biol. Chem. 285:18984-18990(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INDUCTION. |
| [17] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [18] | "hSWS1.SWSAP1 is an evolutionarily conserved complex required for efficient homologous recombination repair." Liu T., Wan L., Wu Y., Chen J., Huang J. J. Biol. Chem. 286:41758-41766(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH SWSAP1. |
| [19] | "Mutation of the RAD51C gene in a Fanconi anemia-like disorder." Vaz F., Hanenberg H., Schuster B., Barker K., Wiek C., Erven V., Neveling K., Endt D., Kesterton I., Autore F., Fraternali F., Freund M., Hartmann L., Grimwade D., Roberts R.G., Schaal H., Mohammed S., Rahman N., Schindler D., Mathew C.G. Nat. Genet. 42:406-409(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FANCO HIS-258, CHARACTERIZATION OF VARIANT FANCO HIS-258. |
| [20] | "Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene." Meindl A., Hellebrand H., Wiek C., Erven V., Wappenschmidt B., Niederacher D., Freund M., Lichtner P., Hartmann L., Schaal H., Ramser J., Honisch E., Kubisch C., Wichmann H.E., Kast K., Deissler H., Engel C., Muller-Myhsok B. Hanenberg H.Nat. Genet. 42:410-414(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARG-3; THR-126; ASN-159; ALA-169; SER-264; VAL-264; ALA-287 AND GLN-366, VARIANTS BROVCA3 VAL-125 AND PHE-138. |
| [21] | "Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients." Kathleen Cuningham foundation consortium for research into familial breast cancer (kConFab) Thompson E.R., Boyle S.E., Johnson J., Ryland G.L., Sawyer S., Choong D.Y., Chenevix-Trench G., Trainer A.H., Lindeman G.J., Mitchell G., James P.A., Campbell I.G. Hum. Mutat. 33:95-99(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LEU-52; PHE-103 DEL; VAL-114; THR-126; ALA-169; THR-175; CYS-249; VAL-262 AND SER-264, VARIANTS BROVCA3 GLU-162; PRO-178 AND ALA-287. |
| + | Additional computationally mapped references. |
Web resources
| NIEHS-SNPs |
| RAD51 homolog C (S.cerevisiae) (RAD51C) Leiden Open Variation Database (LOVD) |
| RAD51 homolog C (S.cerevisiae) (RAD51C) ZJU-CGGM and BGI-Shenzhen |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF029669 mRNA. Translation: AAC39604.1. AF029670 mRNA. Translation: AAC39605.1. AY623112 Genomic DNA. Translation: AAT38108.1. AC011195 Genomic DNA. No translation available. AC025521 Genomic DNA. No translation available. CH471109 Genomic DNA. Translation: EAW94432.1. BC107753 mRNA. Translation: AAI07754.1. |
| IPI | IPI00012829. IPI00040453. |
| RefSeq | NP_002867.1. NM_002876.2. NP_478123.1. NM_058216.1. |
| UniGene | Hs.412587. |
3D structure databases | |
| ProteinModelPortal | O43502. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O43502. 1 interaction. |
| MINT | MINT-204767. |
| STRING | 9606.ENSP00000336701. |
PTM databases | |
| PhosphoSite | O43502. |
Proteomic databases | |
| PaxDb | O43502. |
| PRIDE | O43502. |
Protocols and materials databases | |
| DNASU | 5889. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000337432; ENSP00000336701; ENSG00000108384. ENST00000421782; ENSP00000391450; ENSG00000108384. |
| GeneID | 5889. |
| KEGG | hsa:5889. |
| UCSC | uc002iwu.3. human. |
Organism-specific databases | |
| CTD | 5889. |
| GeneCards | GC17P056769. |
| HGNC | HGNC:9820. RAD51C. |
| MIM | 602774. gene. 613390. phenotype. 613399. phenotype. |
| neXtProt | NX_O43502. |
| Orphanet | 84. Fanconi anemia. 145. Hereditary breast and ovarian cancer syndrome. |
| PharmGKB | PA34177. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0468. |
| HOGENOM | HOG000227426. |
| HOVERGEN | HBG055764. |
| InParanoid | O43502. |
| KO | K10870. |
| OMA | QRDLVSF. |
| OrthoDB | EOG4CRM09. |
| PhylomeDB | O43502. |
Enzyme and pathway databases | |
| Reactome | REACT_604. Hemostasis. |
Gene expression databases | |
| ArrayExpress | O43502. |
| Bgee | O43502. |
| CleanEx | HS_RAD51C. |
| Genevestigator | O43502. |
| GermOnline | ENSG00000108384. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR003593. AAA+_ATPase. IPR013632. DNA_recomb/repair_Rad51_C. IPR016467. DNA_recomb/repair_RecA-like. IPR020588. DNA_recomb_RecA/RadB_ATP-bd. [Graphical view] |
| Pfam | PF08423. Rad51. 1 hit. [Graphical view] |
| PIRSF | PIRSF005856. Rad51. 1 hit. |
| SMART | SM00382. AAA. 1 hit. [Graphical view] |
| PROSITE | PS50162. RECA_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 5889. |
| NextBio | 22902. |
| SOURCE | Search... |
Entry information
| Entry name | RA51C_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O43502 Secondary accession number(s): O43503, Q3B783 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
