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    RAD51C RAD51 paralog C [ Homo sapiens (human) ]

    Gene ID: 5889, updated on 25-May-2017
    Official Symbol
    RAD51Cprovided by HGNC
    Official Full Name
    RAD51 paralog Cprovided by HGNC
    Primary source
    HGNC:HGNC:9820
    See related
    Ensembl:ENSG00000108384 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]
    Orthologs
    Location:
    17q22
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (58692538..58734342)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56769934..56811703)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene testis expressed 14, intercellular bridge forming factor Neighboring gene RNA, U1 small nuclear 52, pseudogene Neighboring gene RNA, U1 small nuclear 85, pseudogene Neighboring gene uncharacterized LOC105371843 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1E Neighboring gene RNA, U6 small nuclear 518, pseudogene Neighboring gene ribosomal protein S12 pseudogene 30

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • 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...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
    • 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 DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
      Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
    • 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...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • 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...
    • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
      Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
    • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
      Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
    • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
    • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ26227, MGC104277

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to crossover junction endodeoxyribonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to four-way junction DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    recombinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    DNA recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA synthesis involved in DNA repair TAS
    Traceable Author Statement
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    female meiosis sister chromatid cohesion IEA
    Inferred from Electronic Annotation
    more info
     
    male meiosis I IEA
    Inferred from Electronic Annotation
    more info
     
    meiotic DNA recombinase assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of G2/M transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to ionizing radiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sister chromatid cohesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    strand displacement TAS
    Traceable Author Statement
    more info
     
    strand invasion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    telomere maintenance via recombination 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 
    cell junction IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    Preferred Names
    DNA repair protein RAD51 homolog 3
    Names
    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), LRG_314

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for 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
      ENSP00000391450.2, OTTHUMP00000233439, ENST00000421782.3, OTTHUMT00000390431
      Conserved Domains (2) summary
      pfam14520
      Location:1257
      HHH_5; Helix-hairpin-helix domain
      cl21455
      Location:100134
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_058216.2NP_478123.1  DNA repair protein RAD51 homolog 3 isoform 1

      See identical proteins and their annotated locations for 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
      ENSP00000336701.4, OTTHUMP00000180604, ENST00000337432.8, OTTHUMT00000280540
      Conserved Domains (3) summary
      TIGR02236
      Location:21348
      recomb_radA; DNA repair and recombination protein RadA
      cd01123
      Location:100347
      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:1257
      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
      Related
      ENST00000482007.5, OTTHUMT00000280542
    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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      58692538..58734342
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722005.3XP_006722068.1  DNA repair protein RAD51 homolog 3 isoform X3

      See identical proteins and their annotated locations for XP_006722068.1

      Related
      ENSP00000401741.1, OTTHUMP00000180606, ENST00000413590.5, OTTHUMT00000280549
      Conserved Domains (1) summary
      cd01123
      Location:1231
      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_017024917.1XP_016880406.1  DNA repair protein RAD51 homolog 3 isoform X4

    3. XM_006722004.3XP_006722067.1  DNA repair protein RAD51 homolog 3 isoform X3

      See identical proteins and their annotated locations for XP_006722067.1

      Conserved Domains (1) summary
      cd01123
      Location:1231
      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 ...
    4. XM_017024914.1XP_016880403.1  DNA repair protein RAD51 homolog 3 isoform X4

    5. XM_006722001.3XP_006722064.1  DNA repair protein RAD51 homolog 3 isoform X1

      Conserved Domains (3) summary
      TIGR02236
      Location:21349
      recomb_radA; DNA repair and recombination protein RadA
      cd01123
      Location:100348
      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:1257
      HHH_5; Helix-hairpin-helix domain
    6. XM_006722002.3XP_006722065.1  DNA repair protein RAD51 homolog 3 isoform X2

      Conserved Domains (2) summary
      cd01123
      Location:100306
      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:1257
      HHH_5; Helix-hairpin-helix domain
    7. XM_017024916.1XP_016880405.1  DNA repair protein RAD51 homolog 3 isoform X4

    8. XM_011525093.2XP_011523395.1  DNA repair protein RAD51 homolog 3 isoform X3

      See identical proteins and their annotated locations for XP_011523395.1

      Conserved Domains (1) summary
      cd01123
      Location:1231
      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 ...
    9. XM_017024919.1XP_016880408.1  DNA repair protein RAD51 homolog 3 isoform X5

    10. XM_011525092.2XP_011523394.1  DNA repair protein RAD51 homolog 3 isoform X3

      See identical proteins and their annotated locations for XP_011523394.1

      Conserved Domains (1) summary
      cd01123
      Location:1231
      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 ...
    11. XM_011525094.2XP_011523396.1  DNA repair protein RAD51 homolog 3 isoform X3

      See identical proteins and their annotated locations for XP_011523396.1

      Conserved Domains (1) summary
      cd01123
      Location:1231
      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 ...
    12. XM_017024918.1XP_016880407.1  DNA repair protein RAD51 homolog 3 isoform X4

    13. XM_017024915.1XP_016880404.1  DNA repair protein RAD51 homolog 3 isoform X4

    RNA

    1. XR_934513.2 RNA Sequence

      Related
      ENST00000487525.5, OTTHUMT00000280546
    2. XR_934514.2 RNA Sequence

    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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