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UniProtKB - O43502 (RA51C_HUMAN)

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Protein

DNA repair protein RAD51 homolog 3

Gene

RAD51C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 RAD21 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.8 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi125 – 132ATPSequence analysis8

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding
Biological processDNA damage, DNA recombination, DNA repair
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-912446 Meiotic recombination
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SIGNORiO43502

Names & Taxonomyi

Protein namesi
Recommended name:
DNA repair protein RAD51 homolog 3
Short name:
R51H3
Alternative name(s):
RAD51 homolog C
RAD51-like protein 2
Gene namesi
Name:RAD51C
Synonyms:RAD51L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108384.14
HGNCiHGNC:9820 RAD51C
MIMi602774 gene
neXtProtiNX_O43502

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Fanconi anemia complementation group O (FANCO)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613390
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064032258R → H in FANCO; possibly hypomorphic allele; reduces interaction with BRCA2 and to a lesser extent with PALB2 and RAD51. 2 PublicationsCorresponds to variant dbSNP:rs267606997EnsemblClinVar.1
Breast-ovarian cancer, familial, 3 (BROVCA3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613399
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063838125G → V in BROVCA3. 1 PublicationCorresponds to variant dbSNP:rs267606998EnsemblClinVar.1
Natural variantiVAR_063840138L → F in BROVCA3; reduces interaction with BRCA2 and to a lesser extent with PALB2 and RAD51. 2 PublicationsCorresponds to variant dbSNP:rs267606999EnsemblClinVar.1
Natural variantiVAR_068017162G → E in BROVCA3. 1 PublicationCorresponds to variant dbSNP:rs35151472EnsemblClinVar.1
Natural variantiVAR_068019178Q → P in BROVCA3. 1 Publication1
Natural variantiVAR_020520287T → A in BROVCA3. 3 PublicationsCorresponds to variant dbSNP:rs28363317EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi131K → A: Significant loss of function; abolishes Holliday junction resolution activity. 2 Publications1
Mutagenesisi131K → R: Partial loss of function. 2 Publications1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNETi5889
GeneReviewsiRAD51C
MalaCardsiRAD51C
MIMi613390 phenotype
613399 phenotype
OpenTargetsiENSG00000108384
Orphaneti84 Fanconi anemia
145 Hereditary breast and ovarian cancer syndrome
PharmGKBiPA34177

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001229411 – 376DNA repair protein RAD51 homolog 3Add BLAST376

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei20PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO43502
MaxQBiO43502
PaxDbiO43502
PeptideAtlasiO43502
PRIDEiO43502
ProteomicsDBi48995
48996 [O43502-2]

PTM databases

iPTMnetiO43502
PhosphoSitePlusiO43502

Expressioni

Tissue specificityi

Expressed in a variety of tissues, with highest expression in testis, heart muscle, spleen and prostate.

Inductioni

Stress-induced increase in the mitochondrial levels is seen.1 Publication

Gene expression databases

BgeeiENSG00000108384
CleanExiHS_RAD51C
ExpressionAtlasiO43502 baseline and differential
GenevisibleiO43502 HS

Organism-specific databases

HPAiHPA045198

Interactioni

Subunit structurei

Part of the Rad21 paralog protein complexes BCDX2 and CX3; the complexes have a ring-like structure arranged into a flat disc around a central channel. The BCDX2 complex consits of RAD51B, RAD51C, RAD51D and XRCC2; the CX3 complex consists of RAD51C and XRCC3. The BCDX2 subcomplex RAD51B:RAD51C interacts with RAD51. Interacts with SWSAP1; involved in homologous recombination repair. Interacts directly with PALB2 which may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3.10 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi111826, 29 interactors
CORUMiO43502
DIPiDIP-41247N
IntActiO43502, 13 interactors
MINTiO43502
STRINGi9606.ENSP00000336701

Structurei

3D structure databases

ProteinModelPortaliO43502
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 126Required for Holliday junction resolution activityAdd BLAST126
Regioni79 – 136Interaction with RAD51B, RAD51D and XRCC31 PublicationAdd BLAST58

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi366 – 370Nuclear localization signalSequence analysis5

Sequence similaritiesi

Belongs to the RecA family. RAD51 subfamily.Curated

Phylogenomic databases

eggNOGiKOG1434 Eukaryota
COG0468 LUCA
GeneTreeiENSGT00860000133731
HOGENOMiHOG000227426
HOVERGENiHBG055764
InParanoidiO43502
KOiK10870
OMAiHWDQKQR
OrthoDBiEOG091G0Q7R
PhylomeDBiO43502
TreeFamiTF101220

Family and domain databases

CDDicd01123 Rad51_DMC1_radA, 1 hit
InterProiView protein in InterPro
IPR013632 DNA_recomb/repair_Rad51_C
IPR016467 DNA_recomb/repair_RecA-like
IPR027417 P-loop_NTPase
IPR033925 Rad51_DMC1_RadA
IPR020588 RecA_ATP-bd
PfamiView protein in Pfam
PF08423 Rad51, 1 hit
PIRSFiPIRSF005856 Rad51, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50162 RECA_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O43502-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MRGKTFRFEM QRDLVSFPLS PAVRVKLVSA GFQTAEELLE VKPSELSKEV 
        60         70         80         90        100
GISKAEALET LQIIRRECLT NKPRYAGTSE SHKKCTALEL LEQEHTQGFI 
       110        120        130        140        150
ITFCSALDDI LGGGVPLMKT TEICGAPGVG KTQLCMQLAV DVQIPECFGG 
       160        170        180        190        200
VAGEAVFIDT EGSFMVDRVV DLATACIQHL QLIAEKHKGE EHRKALEDFT 
       210        220        230        240        250
LDNILSHIYY FRCRDYTELL AQVYLLPDFL SEHSKVRLVI VDGIAFPFRH 
       260        270        280        290        300
DLDDLSLRTR LLNGLAQQMI SLANNHRLAV ILTNQMTTKI DRNQALLVPA 
       310        320        330        340        350
LGESWGHAAT IRLIFHWDRK QRLATLYKSP SQKECTVLFQ IKPQGFRDTV 
       360        370 
VTSACSLQTE GSLSTRKRSR DPEEEL
Length:376
Mass (Da):42,190
Last modified:June 1, 1998 - v1
Checksum:i3AAADD3C1C0851E0
GO
Isoform 2 (identifier: O43502-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     135-135: C → W
     136-376: Missing.

Show »
Length:135
Mass (Da):14,883
Checksum:i56657E563509D90F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0638373G → R1 PublicationCorresponds to variant dbSNP:rs376403182EnsemblClinVar.1
Natural variantiVAR_06801452I → L1 PublicationCorresponds to variant dbSNP:rs730881927EnsemblClinVar.1
Natural variantiVAR_068015103Missing 1 Publication1
Natural variantiVAR_068016114G → V1 Publication1
Natural variantiVAR_063838125G → V in BROVCA3. 1 PublicationCorresponds to variant dbSNP:rs267606998EnsemblClinVar.1
Natural variantiVAR_063839126A → T2 PublicationsCorresponds to variant dbSNP:rs61758784EnsemblClinVar.1
Natural variantiVAR_063840138L → F in BROVCA3; reduces interaction with BRCA2 and to a lesser extent with PALB2 and RAD51. 2 PublicationsCorresponds to variant dbSNP:rs267606999EnsemblClinVar.1
Natural variantiVAR_020518144I → T1 PublicationCorresponds to variant dbSNP:rs28363307EnsemblClinVar.1
Natural variantiVAR_063841159D → N Reduces interaction with BRCA2 and to a lesser extent with PALB2 and RAD51. 2 Publications1
Natural variantiVAR_068017162G → E in BROVCA3. 1 PublicationCorresponds to variant dbSNP:rs35151472EnsemblClinVar.1
Natural variantiVAR_063842169V → A2 PublicationsCorresponds to variant dbSNP:rs587780256EnsemblClinVar.1
Natural variantiVAR_068018175A → T1 PublicationCorresponds to variant dbSNP:rs587780838EnsemblClinVar.1
Natural variantiVAR_068019178Q → P in BROVCA3. 1 Publication1
Natural variantiVAR_020519249R → C2 PublicationsCorresponds to variant dbSNP:rs28363311EnsemblClinVar.1
Natural variantiVAR_064032258R → H in FANCO; possibly hypomorphic allele; reduces interaction with BRCA2 and to a lesser extent with PALB2 and RAD51. 2 PublicationsCorresponds to variant dbSNP:rs267606997EnsemblClinVar.1
Natural variantiVAR_068020262L → V1 PublicationCorresponds to variant dbSNP:rs149331537EnsemblClinVar.1
Natural variantiVAR_063843264G → S2 PublicationsCorresponds to variant dbSNP:rs147241704EnsemblClinVar.1
Natural variantiVAR_063844264G → V1 Publication1
Natural variantiVAR_020520287T → A in BROVCA3. 3 PublicationsCorresponds to variant dbSNP:rs28363317EnsemblClinVar.1
Natural variantiVAR_063845366R → Q1 PublicationCorresponds to variant dbSNP:rs577852020EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_043656135C → W in isoform 2. 1 Publication1
Alternative sequenceiVSP_043657136 – 376Missing in isoform 2. 1 PublicationAdd BLAST241

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS11611.1 [O43502-1]
CCDS45745.1 [O43502-2]
RefSeqiNP_002867.1, NM_002876.3 [O43502-2]
NP_478123.1, NM_058216.2 [O43502-1]
UniGeneiHs.412587

Genome annotation databases

EnsembliENST00000337432; ENSP00000336701; ENSG00000108384 [O43502-1]
ENST00000421782; ENSP00000391450; ENSG00000108384 [O43502-2]
GeneIDi5889
KEGGihsa:5889
UCSCiuc002iwt.3 human [O43502-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRA51C_HUMAN
AccessioniPrimary (citable) accession number: O43502
Secondary accession number(s): O43503, Q3B783
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 1, 1998
Last modified: July 18, 2018
This is version 165 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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