UniProtKB - O43502 (RA51C_HUMAN)
DNA repair protein RAD51 homolog 3
RAD51C
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 125 – 132 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- crossover junction endodeoxyribonuclease activity Source: Ensembl
- DNA binding Source: ProtInc
- DNA-dependent ATPase activity Source: InterPro
GO - Biological processi
- blood coagulation Source: Reactome
- DNA recombination Source: UniProtKB
- DNA repair Source: UniProtKB
- double-strand break repair via homologous recombination Source: UniProtKB
- female meiosis sister chromatid cohesion Source: Ensembl
- male meiosis I Source: Ensembl
- meiotic DNA recombinase assembly Source: GO_Central
- positive regulation of G2/M transition of mitotic cell cycle Source: UniProtKB
- reciprocal meiotic recombination Source: GO_Central
- sister chromatid cohesion Source: UniProtKB
- spermatogenesis Source: Ensembl
- telomere maintenance via recombination Source: Ensembl
Keywordsi
Molecular function | DNA-binding |
Biological process | DNA damage, DNA recombination, DNA repair |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | O43502 |
Reactomei | R-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 |
SIGNORi | O43502 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA repair protein RAD51 homolog 3Short name: R51H3 Alternative name(s): RAD51 homolog C RAD51-like protein 2 |
Gene namesi | Name:RAD51C Synonyms:RAD51L2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9820, RAD51C |
MIMi | 602774, gene |
neXtProti | NX_O43502 |
VEuPathDBi | HostDB:ENSG00000108384.14 |
Subcellular locationi
Cytoplasm and Cytosol
Nucleus
Mitochondrion
Other locations
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.
Cytosol
- cytosol Source: HPA
Mitochondrion
- mitochondrion Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- Rad51B-Rad51C-Rad51D-XRCC2 complex Source: UniProtKB
- Rad51C-XRCC3 complex Source: UniProtKB
Other locations
- cell junction Source: HPA
- cytoplasm Source: UniProtKB
- intracellular membrane-bounded organelle Source: HPA
- perinuclear region of cytoplasm Source: UniProtKB
- replication fork Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Mitochondrion, NucleusPathology & Biotechi
Involvement in diseasei
Fanconi anemia complementation group O (FANCO)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064032 | 258 | R → 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
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063838 | 125 | G → V in BROVCA3. 1 PublicationCorresponds to variant dbSNP:rs267606998EnsemblClinVar. | 1 | |
Natural variantiVAR_063840 | 138 | L → 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_068017 | 162 | G → E in BROVCA3. 1 PublicationCorresponds to variant dbSNP:rs35151472EnsemblClinVar. | 1 | |
Natural variantiVAR_068019 | 178 | Q → P in BROVCA3. 1 Publication | 1 | |
Natural variantiVAR_020520 | 287 | T → A in BROVCA3. 3 PublicationsCorresponds to variant dbSNP:rs28363317EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 131 | K → A: Significant loss of function; abolishes Holliday junction resolution activity. 2 Publications | 1 | |
Mutagenesisi | 131 | K → R: Partial loss of function. 2 Publications | 1 |
Keywords - Diseasei
Disease variant, Fanconi anemiaOrganism-specific databases
DisGeNETi | 5889 |
GeneReviewsi | RAD51C |
MalaCardsi | RAD51C |
MIMi | 613390, phenotype 613399, phenotype |
OpenTargetsi | ENSG00000108384 |
Orphaneti | 84, Fanconi anemia 145, Hereditary breast and ovarian cancer syndrome |
PharmGKBi | PA34177 |
Miscellaneous databases
Pharosi | O43502, Tbio |
Genetic variation databases
BioMutai | RAD51C |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000122941 | 1 – 376 | DNA repair protein RAD51 homolog 3Add BLAST | 376 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 20 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
CPTACi | CPTAC-3250 CPTAC-3287 |
EPDi | O43502 |
jPOSTi | O43502 |
MassIVEi | O43502 |
MaxQBi | O43502 |
PaxDbi | O43502 |
PeptideAtlasi | O43502 |
PRIDEi | O43502 |
ProteomicsDBi | 48995 [O43502-1] 48996 [O43502-2] |
PTM databases
iPTMneti | O43502 |
PhosphoSitePlusi | O43502 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000108384, Expressed in female gonad and 230 other tissues |
ExpressionAtlasi | O43502, baseline and differential |
Genevisiblei | O43502, HS |
Organism-specific databases
HPAi | ENSG00000108384, Low tissue specificity |
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 PublicationsBinary interactionsi
Hide detailsO43502
Isoform 2 [O43502-2]
With | #Exp. | IntAct |
---|---|---|
SPG21 [Q9NZD8] | 3 | EBI-14233893,EBI-742688 |
Protein-protein interaction databases
BioGRIDi | 111826, 33 interactors |
CORUMi | O43502 |
DIPi | DIP-41247N |
IntActi | O43502, 19 interactors |
MINTi | O43502 |
STRINGi | 9606.ENSP00000336701 |
Miscellaneous databases
RNActi | O43502, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 126 | Required for Holliday junction resolution activityAdd BLAST | 126 | |
Regioni | 79 – 136 | Interaction with RAD51B, RAD51D and XRCC31 PublicationAdd BLAST | 58 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 366 – 370 | Nuclear localization signalSequence analysis | 5 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1434, Eukaryota |
GeneTreei | ENSGT00940000156805 |
InParanoidi | O43502 |
OMAi | RLILYWN |
OrthoDBi | 1345899at2759 |
PhylomeDBi | O43502 |
TreeFami | TF101220 |
Family and domain databases
CDDi | cd01123, Rad51_DMC1_radA, 1 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF08423, Rad51, 1 hit |
PIRSFi | PIRSF005856, Rad51, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS50162, RECA_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3QKK3 | J3QKK3_HUMAN | DNA repair protein RAD51 homolog 3 | RAD51C | 346 | Annotation score: | ||
H7C1R0 | H7C1R0_HUMAN | DNA repair protein RAD51 homolog 3 | RAD51C | 257 | Annotation score: | ||
H7C2Q5 | H7C2Q5_HUMAN | DNA repair protein RAD51 homolog 3 | RAD51C | 213 | Annotation score: | ||
J3QLQ2 | J3QLQ2_HUMAN | DNA repair protein RAD51 homolog 3 | RAD51C | 107 | Annotation score: | ||
J3QR58 | J3QR58_HUMAN | DNA repair protein RAD51 homolog 3 | RAD51C | 135 | Annotation score: | ||
Q7KZJ0 | Q7KZJ0_HUMAN | DNA repair protein RAD51 homolog 3 | RAD51C hCG_2000975 | 134 | Annotation score: | ||
A0A087WZ35 | A0A087WZ35_HUMAN | DNA repair protein RAD51 homolog 3 | RAD51C | 131 | Annotation score: | ||
E9PI66 | E9PI66_HUMAN | DNA repair protein RAD51 homolog 3 | RAD51C | 52 | Annotation score: | ||
J3QLB5 | J3QLB5_HUMAN | DNA repair protein RAD51 homolog 3 | RAD51C | 47 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063837 | 3 | G → R1 PublicationCorresponds to variant dbSNP:rs376403182EnsemblClinVar. | 1 | |
Natural variantiVAR_068014 | 52 | I → L1 PublicationCorresponds to variant dbSNP:rs730881927EnsemblClinVar. | 1 | |
Natural variantiVAR_068015 | 103 | Missing 1 Publication | 1 | |
Natural variantiVAR_068016 | 114 | G → V1 PublicationCorresponds to variant dbSNP:rs1555593767EnsemblClinVar. | 1 | |
Natural variantiVAR_063838 | 125 | G → V in BROVCA3. 1 PublicationCorresponds to variant dbSNP:rs267606998EnsemblClinVar. | 1 | |
Natural variantiVAR_063839 | 126 | A → T2 PublicationsCorresponds to variant dbSNP:rs61758784EnsemblClinVar. | 1 | |
Natural variantiVAR_063840 | 138 | L → 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_020518 | 144 | I → T1 PublicationCorresponds to variant dbSNP:rs28363307EnsemblClinVar. | 1 | |
Natural variantiVAR_063841 | 159 | D → N Reduces interaction with BRCA2 and to a lesser extent with PALB2 and RAD51. 2 Publications | 1 | |
Natural variantiVAR_068017 | 162 | G → E in BROVCA3. 1 PublicationCorresponds to variant dbSNP:rs35151472EnsemblClinVar. | 1 | |
Natural variantiVAR_063842 | 169 | V → A2 PublicationsCorresponds to variant dbSNP:rs587780256EnsemblClinVar. | 1 | |
Natural variantiVAR_068018 | 175 | A → T1 PublicationCorresponds to variant dbSNP:rs587780838EnsemblClinVar. | 1 | |
Natural variantiVAR_068019 | 178 | Q → P in BROVCA3. 1 Publication | 1 | |
Natural variantiVAR_020519 | 249 | R → C2 PublicationsCorresponds to variant dbSNP:rs28363311EnsemblClinVar. | 1 | |
Natural variantiVAR_064032 | 258 | R → 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_068020 | 262 | L → V1 PublicationCorresponds to variant dbSNP:rs149331537EnsemblClinVar. | 1 | |
Natural variantiVAR_063843 | 264 | G → S2 PublicationsCorresponds to variant dbSNP:rs147241704EnsemblClinVar. | 1 | |
Natural variantiVAR_063844 | 264 | G → V1 PublicationCorresponds to variant dbSNP:rs1283065191EnsemblClinVar. | 1 | |
Natural variantiVAR_020520 | 287 | T → A in BROVCA3. 3 PublicationsCorresponds to variant dbSNP:rs28363317EnsemblClinVar. | 1 | |
Natural variantiVAR_063845 | 366 | R → Q1 PublicationCorresponds to variant dbSNP:rs577852020EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043656 | 135 | C → W in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_043657 | 136 – 376 | Missing in isoform 2. 1 PublicationAdd BLAST | 241 |
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 |
CCDSi | CCDS11611.1 [O43502-1] CCDS45745.1 [O43502-2] |
RefSeqi | NP_002867.1, NM_002876.3 [O43502-2] NP_478123.1, NM_058216.2 [O43502-1] |
Genome annotation databases
Ensembli | ENST00000337432; ENSP00000336701; ENSG00000108384 [O43502-1] ENST00000421782; ENSP00000391450; ENSG00000108384 [O43502-2] |
GeneIDi | 5889 |
KEGGi | hsa:5889 |
UCSCi | uc002iwt.3, human [O43502-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
RAD51 homolog C (S.cerevisiae) (RAD51C) Leiden Open Variation Database (LOVD) |
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 |
CCDSi | CCDS11611.1 [O43502-1] CCDS45745.1 [O43502-2] |
RefSeqi | NP_002867.1, NM_002876.3 [O43502-2] NP_478123.1, NM_058216.2 [O43502-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 111826, 33 interactors |
CORUMi | O43502 |
DIPi | DIP-41247N |
IntActi | O43502, 19 interactors |
MINTi | O43502 |
STRINGi | 9606.ENSP00000336701 |
PTM databases
iPTMneti | O43502 |
PhosphoSitePlusi | O43502 |
Genetic variation databases
BioMutai | RAD51C |
Proteomic databases
CPTACi | CPTAC-3250 CPTAC-3287 |
EPDi | O43502 |
jPOSTi | O43502 |
MassIVEi | O43502 |
MaxQBi | O43502 |
PaxDbi | O43502 |
PeptideAtlasi | O43502 |
PRIDEi | O43502 |
ProteomicsDBi | 48995 [O43502-1] 48996 [O43502-2] |
Protocols and materials databases
Antibodypediai | 18441, 381 antibodies |
CPTCi | O43502, 2 antibodies |
DNASUi | 5889 |
Genome annotation databases
Ensembli | ENST00000337432; ENSP00000336701; ENSG00000108384 [O43502-1] ENST00000421782; ENSP00000391450; ENSG00000108384 [O43502-2] |
GeneIDi | 5889 |
KEGGi | hsa:5889 |
UCSCi | uc002iwt.3, human [O43502-1] |
Organism-specific databases
CTDi | 5889 |
DisGeNETi | 5889 |
GeneCardsi | RAD51C |
GeneReviewsi | RAD51C |
HGNCi | HGNC:9820, RAD51C |
HPAi | ENSG00000108384, Low tissue specificity |
MalaCardsi | RAD51C |
MIMi | 602774, gene 613390, phenotype 613399, phenotype |
neXtProti | NX_O43502 |
OpenTargetsi | ENSG00000108384 |
Orphaneti | 84, Fanconi anemia 145, Hereditary breast and ovarian cancer syndrome |
PharmGKBi | PA34177 |
VEuPathDBi | HostDB:ENSG00000108384.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1434, Eukaryota |
GeneTreei | ENSGT00940000156805 |
InParanoidi | O43502 |
OMAi | RLILYWN |
OrthoDBi | 1345899at2759 |
PhylomeDBi | O43502 |
TreeFami | TF101220 |
Enzyme and pathway databases
PathwayCommonsi | O43502 |
Reactomei | R-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 |
SIGNORi | O43502 |
Miscellaneous databases
BioGRID-ORCSi | 5889, 525 hits in 1000 CRISPR screens |
ChiTaRSi | RAD51C, human |
GeneWikii | RAD51C |
GenomeRNAii | 5889 |
Pharosi | O43502, Tbio |
PROi | PR:O43502 |
RNActi | O43502, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000108384, Expressed in female gonad and 230 other tissues |
ExpressionAtlasi | O43502, baseline and differential |
Genevisiblei | O43502, HS |
Family and domain databases
CDDi | cd01123, Rad51_DMC1_radA, 1 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF08423, Rad51, 1 hit |
PIRSFi | PIRSF005856, Rad51, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS50162, RECA_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RA51C_HUMAN | |
Accessioni | O43502Primary (citable) accession number: O43502 Secondary accession number(s): O43503, Q3B783 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | June 1, 1998 | |
Last modified: | April 7, 2021 | |
This is version 185 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families