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RAD51C RAD51 paralog C [ Homo sapiens (human) ]

Gene ID: 5889, updated on 20-Dec-2019

Summary

Official Symbol
RAD51Cprovided by HGNC
Official Full Name
RAD51 paralog Cprovided by HGNC
Primary source
HGNC:HGNC:9820
See related
Ensembl:ENSG00000108384 MIM:602774
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]
Expression
Ubiquitous expression in testis (RPKM 9.7), brain (RPKM 5.4) and 25 other tissues See more
Orthologs

Genomic context

See RAD51C in Genome Data Viewer
Location:
17q22
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (58692140..58735611)
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, variant U1 small nuclear 34 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IEA
Inferred from Electronic Annotation
more info
 
contributes_to crossover junction endodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to crossover junction endodeoxyribonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to four-way junction DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
Process Evidence Code Pubs
DNA recombination IDA
Inferred from Direct Assay
more info
PubMed 
DNA repair IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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
PubMed 
reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sister chromatid cohesion ISS
Inferred from Sequence or Structural Similarity
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
telomere maintenance via recombination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with Holliday junction resolvase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with Holliday junction resolvase complex IDA
Inferred from Direct Assay
more info
PubMed 
Rad51B-Rad51C-Rad51D-XRCC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rad51B-Rad51C-Rad51D-XRCC2 complex IDA
Inferred from Direct Assay
more info
PubMed 
Rad51C-XRCC3 complex IBA
Inferred from Biological aspect of Ancestor
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 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
replication fork IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA repair protein RAD51 homolog 3
Names
RAD51-like protein 2
yeast RAD51 homolog 3

NCBI Reference Sequences (RefSeq)

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, ENST00000421782.3
    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_058216.3NP_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)
    AC025521, AF029669, CB243543
    Consensus CDS
    CCDS11611.1
    UniProtKB/Swiss-Prot
    O43502
    Related
    ENSP00000336701.4, ENST00000337432.9
    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_103872.2 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)
    AC025521, 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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    58692140..58735611
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722001.4XP_006722064.1  DNA repair protein RAD51 homolog 3 isoform X1

    Related
    ENSP00000463121.1, ENST00000583539.5
    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
  2. XM_006722002.4XP_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
  3. 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, ENST00000413590.5
    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_017024917.1XP_016880406.1  DNA repair protein RAD51 homolog 3 isoform X4

  5. 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 ...
  6. XM_017024914.1XP_016880403.1  DNA repair protein RAD51 homolog 3 isoform X4

  7. XM_017024916.1XP_016880405.1  DNA repair protein RAD51 homolog 3 isoform X4

  8. XM_017024918.2XP_016880407.1  DNA repair protein RAD51 homolog 3 isoform X4

  9. 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 ...
  10. XM_017024919.1XP_016880408.1  DNA repair protein RAD51 homolog 3 isoform X5

  11. 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 ...
  12. 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 ...
  13. XM_017024915.1XP_016880404.1  DNA repair protein RAD51 homolog 3 isoform X4

RNA

  1. XR_934513.3 RNA Sequence

  2. XR_934514.3 RNA Sequence

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