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RAD51C RAD51 paralog C [ Homo sapiens (human) ]

Gene ID: 5889, updated on 17-Apr-2014
Official Symbol
RAD51Cprovided by HGNC
Official Full Name
RAD51 paralog Cprovided by HGNC
Primary source
HGNC:9820
See related
Ensembl:ENSG00000108384; HPRD:04143; MIM:602774; Vega:OTTHUMG00000141292
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FANCO; R51H3; BROVCA3; RAD51L2
Summary
This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Location :
17q22
Sequence :
Chromosome: 17; NC_000017.11 (58692573..58734342)
See RAD51C in Epigenomics, MapViewer

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927688 Neighboring gene chromosome 17 open reading frame 47 Neighboring gene testis expressed 14 Neighboring gene immunoglobulin (CD79A) binding protein 1 pseudogene 2 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent, 1E Neighboring gene ribosomal protein S12 pseudogene 30 Neighboring gene tripartite motif containing 37

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Breast-ovarian cancer, familial 3
MedGen: C3150659 OMIM: 613399 GeneReviews: Not available
Compare labs
Fanconi anemia, complementation group O
MedGen: C3150653 OMIM: 613390 GeneReviews: Fanconi Anemia
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
NHGRI GWA Catalog
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
NHGRI GWA Catalog
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
NHGRI GWA Catalog
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Homologous recombination, organism-specific biosystem (from KEGG)
    Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homologous recombination, conserved biosystem (from KEGG)
    Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic Recombination, organism-specific biosystem (from REACTOME)
    Meiotic Recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-dependent ATPase activity IEA
Inferred from Electronic Annotation
more info
 
contributes_to crossover junction endodeoxyribonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to four-way junction DNA binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA catabolic process, endonucleolytic IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA recombination IDA
Inferred from Direct Assay
more info
PubMed 
DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
 
female meiosis sister chromatid cohesion IEA
Inferred from Electronic Annotation
more info
 
male meiosis I IEA
Inferred from Electronic Annotation
more info
 
positive regulation of G2/M transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
 
reciprocal meiotic recombination IEA
Inferred from Electronic Annotation
more info
 
sister chromatid cohesion ISS
Inferred from Sequence or Structural Similarity
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with Holliday junction resolvase complex IDA
Inferred from Direct Assay
more info
PubMed 
Rad51B-Rad51C-Rad51D-XRCC2 complex IDA
Inferred from Direct Assay
more info
PubMed 
Rad51C-XRCC3 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
replication fork IDA
Inferred from Direct Assay
more info
 
Preferred Names
DNA repair protein RAD51 homolog 3
Names
DNA repair protein RAD51 homolog 3
RAD51-like protein 2
yeast RAD51 homolog 3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023199.1 RefSeqGene

    Range
    4972..46741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002876.3NP_002867.1  DNA repair protein RAD51 homolog 3 isoform 2

    See proteins identical to NP_002867.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 3' structure, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC011195, AF029670, AI914449, BM987503
    Consensus CDS
    CCDS45745.1
    UniProtKB/Swiss-Prot
    O43502
    Related
    ENSP00000391450, OTTHUMP00000233439, ENST00000421782, OTTHUMT00000390431
    Conserved Domains (2) summary
    pfam14520
    Location:957
    Blast Score: 89
    HHH_5; Helix-hairpin-helix domain
    cl17233
    Location:100134
    Blast Score: 157
    RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...
  2. NM_058216.2NP_478123.1  DNA repair protein RAD51 homolog 3 isoform 1

    See proteins identical to NP_478123.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF029669, BC107753, CB243543
    Consensus CDS
    CCDS11611.1
    UniProtKB/Swiss-Prot
    O43502
    Related
    ENSP00000336701, OTTHUMP00000180604, ENST00000337432, OTTHUMT00000280540
    Conserved Domains (3) summary
    TIGR02236
    Location:21348
    Blast Score: 429
    recomb_radA; DNA repair and recombination protein RadA
    cd01123
    Location:100347
    Blast Score: 736
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam14520
    Location:957
    Blast Score: 91
    HHH_5; Helix-hairpin-helix domain

RNA

  1. NR_103872.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC000667, BC107753, CB243543
  2. NR_103873.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
    Source sequence(s)
    AA304618, AC011195, AI424321, AI914449

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11

    Range
    58692573..58734342
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722004.1XP_006722067.1  

    See proteins identical to XP_006722067.1

    Conserved Domains (2) summary
    TIGR02237
    Location:4229
    Blast Score: 179
    recomb_radB; DNA repair and recombination protein RadB
    cd01123
    Location:1231
    Blast Score: 668
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
  2. XM_006722005.1XP_006722068.1  

    See proteins identical to XP_006722068.1

    Conserved Domains (2) summary
    TIGR02237
    Location:4229
    Blast Score: 179
    recomb_radB; DNA repair and recombination protein RadB
    cd01123
    Location:1231
    Blast Score: 668
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
  3. XM_006722001.1XP_006722064.1  

    Conserved Domains (3) summary
    TIGR02236
    Location:21349
    Blast Score: 430
    recomb_radA; DNA repair and recombination protein RadA
    cd01123
    Location:100348
    Blast Score: 741
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam14520
    Location:957
    Blast Score: 92
    HHH_5; Helix-hairpin-helix domain
  4. XM_006722002.1XP_006722065.1  

    Conserved Domains (2) summary
    cd01123
    Location:100306
    Blast Score: 610
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam14520
    Location:957
    Blast Score: 94
    HHH_5; Helix-hairpin-helix domain
  5. XM_006722003.1XP_006722066.1  

    See proteins identical to XP_006722066.1

    Conserved Domains (2) summary
    cd01123
    Location:100301
    Blast Score: 589
    Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...
    pfam14520
    Location:957
    Blast Score: 90
    HHH_5; Helix-hairpin-helix domain
  6. XM_006722006.1XP_006722069.1  

    Conserved Domains (2) summary
    pfam14520
    Location:957
    Blast Score: 92
    HHH_5; Helix-hairpin-helix domain
    cl17233
    Location:100236
    Blast Score: 398
    RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...

Alternate HuRef

Genomic

  1. AC_000149.1 Alternate HuRef

    Range
    52130436..52172218
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    56835470..56877217
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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