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Details on Person UniProt:O43502 RAD51C

Class:IdReferenceGeneProduct:217113
_chainChangeLogchain:1-376 added on Fri February 6 2015
_displayNameUniProt:O43502 RAD51C
_timestamp2024-11-03 20:20:58
chainchain:1-376
checksum3AAADD3C1C0851E0
commentFUNCTION 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. Part of the RAD51 paralog protein complexes BCDX2 and CX3 which act at different stages of the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 seems to act downstream of BRCA2 recruitment and upstream of RAD51 recruitment; CX3 seems to act downstream of RAD51 recruitment; both complexes bind predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. Involved in RAD51 foci formation in response to DNA damage suggesting an involvement in early stages of HR probably in the invasion step. 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. Participates in branch migration and HJ resolution and thus is important for processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex. Part of a PALB2-scaffolded HR complex containing BRCA2 and which is thought to play a role in DNA repair by HR. 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.SUBUNIT Part of the RAD51 paralog protein complexes BCDX2 and CX3; the complexes have a ring-like structure arranged into a flat disc around a central channel (PubMed:11751635, PubMed:11751636, PubMed:11842112, PubMed:11842113, PubMed:12427746, PubMed:14704354). The BCDX2 complex consits of RAD51B, RAD51C, RAD51D and XRCC2; the CX3 complex consists of RAD51C and XRCC3 (PubMed:11751635, PubMed:11842113, PubMed:14704354). The BCDX2 subcomplex RAD51B:RAD51C interacts with RAD51 (PubMed:12427746, PubMed:16395335). Interacts with SWSAP1; involved in homologous recombination repair (PubMed:21965664). Interacts directly with PALB2 which may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3 (PubMed:24141787). Interacts with HELQ (PubMed:24005041). Interacts with DNA damage up-regulated protein DDUP (PubMed:35849344).INTERACTION 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.ALTERNATIVE PRODUCTS 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the RecA family. RAD51 subfamily.ONLINE INFORMATION Leiden Open Variation Database (LOVD)
created[InstanceEdit:217050] Saxena, A, 2008-03-25 20:36:09
descriptionrecommendedName: DNA repair protein RAD51 homolog 3 shortName: R51H3 alternativeName: RAD51 homolog C alternativeName: RAD51-like protein 2
geneNameRAD51C
RAD51L2
identifierO43502
isSequenceChangedFALSE
keyword3D-structure
Alternative splicing
ATP-binding
Cytoplasm
Disease variant
DNA damage
DNA recombination
DNA repair
DNA-binding
Fanconi anemia
Mitochondrion
Nucleotide-binding
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9862192] Weiser, Joel, 2024-02-26
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameRAD51C
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8992087] ENSEMBL:ENSG00000108384 RAD51C [Homo sapiens]
secondaryIdentifierRA51C_HUMAN
O43503
Q3B783
sequenceLength376
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:8968493] UniProt:O43502-1 RAD51C [Homo sapiens]
[ReferenceIsoform:8968494] UniProt:O43502-2 RAD51C [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:217039] RAD51C [nucleoplasm] [Homo sapiens]
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