Human Gene RAD51C (uc002iwu.3) Description and Page Index
  Description: Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.
RefSeq Summary (NM_058216): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:56,769,963-56,811,692 Size: 41,730 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr17:56,770,005-56,811,583 Size: 41,579 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:56,769,963-56,811,692)mRNA (may differ from genome)Protein (376 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: RA51C_HUMAN
DESCRIPTION: RecName: Full=DNA repair protein RAD51 homolog 3; Short=R51H3; AltName: Full=RAD51 homolog C; AltName: Full=RAD51-like protein 2;
FUNCTION: 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. The RAD51B-RAD51C dimer exhibits single-stranded DNA-dependent ATPase activity. The BCDX2 complex binds single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. Participates in branch migration and Holliday junction resolution and thus is important for processing HR intermediates late in the DNA repair process. Also 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. 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.
SUBUNIT: Interacts with RAD51B and XRCC3. Part of a BCDX2 complex consisting of RAD51B, RAD51C, RAD51D and XRCC2. Part of a complex consisting of RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3. Part of a complex with RAD51B and RAD51. Interacts with SWSAP1; involved in homologous recombination repair.
INTERACTION: Q6NVH7:SWSAP1; NbExp=2; IntAct=EBI-2267048, EBI-5281637;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Mitochondrion. 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.
TISSUE SPECIFICITY: Expressed in a variety of tissues, with highest expression in testis, heart muscle, spleen and prostate.
INDUCTION: Stress-induced increase in the mitochondrial levels is seen.
DISEASE: Defects in RAD51C are the cause of Fanconi anemia complementation group O (FANCO) [MIM:613390]. It is a 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.
DISEASE: Defects in RAD51C are the cause of familial breast- ovarian cancer type 3 (BROVCA3) [MIM:613399]. It is a 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.
SIMILARITY: Belongs to the RecA family. RAD51 subfamily.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rad51c/";
WEB RESOURCE: Name=RAD51 homolog C (S.cerevisiae) (RAD51C); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/RAD51C";
WEB RESOURCE: Name=RAD51 homolog C (S.cerevisiae) (RAD51C); Note=ZJU-CGGM and BGI-Shenzhen; URL="http://www.genomed.org/lovd/cm/home.php?select_db=RAD51C";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RAD51C
CDC HuGE Published Literature: RAD51C

-  MalaCards Disease Associations
  MalaCards Gene Search: RAD51C
Diseases sorted by gene-association score: breast-ovarian cancer, familial 3* (1305), fanconi anemia, complementation group o* (1255), hereditary breast ovarian cancer* (184), rad51c-related familial susceptibility to breast-ovarian cancer* (100), rad51c-related fanconi anemia* (100), fanconi anemia, complementation group a* (82), breast cancer (2), female reproductive organ cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.38 RPKM in Testis
Total median expression: 199.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.0042-0.452 Picture PostScript Text
3' UTR -18.20109-0.167 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR013632 - DNA_recomb/repair_Rad51_C
IPR016467 - DNA_recomb/repair_RecA-like
IPR020588 - DNA_recomb_RecA/RadB_ATP-bd

Pfam Domains:
PF08423 - Rad51
PF13481 - AAA domain

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on O43502
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000150 recombinase activity
GO:0000166 nucleotide binding
GO:0003677 DNA binding
GO:0003690 double-stranded DNA binding
GO:0003697 single-stranded DNA binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008094 DNA-dependent ATPase activity
GO:0008821 crossover junction endodeoxyribonuclease activity
GO:0000400 four-way junction DNA binding

Biological Process:
GO:0000707 meiotic DNA recombinase assembly
GO:0000722 telomere maintenance via recombination
GO:0000724 double-strand break repair via homologous recombination
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006312 mitotic recombination
GO:0006974 cellular response to DNA damage stimulus
GO:0007062 sister chromatid cohesion
GO:0007066 female meiosis sister chromatid cohesion
GO:0007131 reciprocal meiotic recombination
GO:0007141 male meiosis I
GO:0007283 spermatogenesis
GO:0007596 blood coagulation
GO:0010212 response to ionizing radiation
GO:0010971 positive regulation of G2/M transition of mitotic cell cycle
GO:0042148 strand invasion

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005657 replication fork
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0030054 cell junction
GO:0033063 Rad51B-Rad51C-Rad51D-XRCC2 complex
GO:0033065 Rad51C-XRCC3 complex
GO:0043231 intracellular membrane-bounded organelle
GO:0048471 perinuclear region of cytoplasm
GO:0048476 Holliday junction resolvase complex


-  Descriptions from all associated GenBank mRNAs
  BC107753 - Homo sapiens RAD51 homolog C (S. cerevisiae), mRNA (cDNA clone MGC:104277 IMAGE:6715697), complete cds.
AK290487 - Homo sapiens cDNA FLJ76539 complete cds, highly similar to Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 3, mRNA.
AF029669 - Homo sapiens Rad51C (RAD51C) mRNA, complete cds.
BC073161 - Homo sapiens cDNA clone IMAGE:6156549, containing frame-shift errors.
BC064578 - Homo sapiens cDNA clone IMAGE:5744013, partial cds.
BC093930 - Homo sapiens RAD51 homolog C (S. cerevisiae), mRNA (cDNA clone IMAGE:7939775), complete cds.
BC143259 - Homo sapiens cDNA clone IMAGE:9051761.
BC101485 - Homo sapiens RAD51 homolog C (S. cerevisiae), mRNA (cDNA clone IMAGE:8068991), complete cds.
BC000667 - Homo sapiens RAD51 homolog C (S. cerevisiae), mRNA (cDNA clone IMAGE:3350026).
AF029670 - Homo sapiens Rad51C truncated protein (RAD51C) mRNA, complete cds.
BT007339 - Homo sapiens RAD51 homolog C (S. cerevisiae) mRNA, complete cds.
KJ901693 - Synthetic construct Homo sapiens clone ccsbBroadEn_11087 RAD51C gene, encodes complete protein.
AB528656 - Synthetic construct DNA, clone: pF1KB6575, Homo sapiens RAD51C gene for RAD51 homolog C, without stop codon, in Flexi system.
AK129738 - Homo sapiens cDNA FLJ26227 fis, clone ADG08867.
AK303363 - Homo sapiens cDNA FLJ61513 complete cds, highly similar to DNA repair protein RAD51 homolog 3.
JD051091 - Sequence 32115 from Patent EP1572962.
JD335226 - Sequence 316250 from Patent EP1572962.
JD431405 - Sequence 412429 from Patent EP1572962.
JD561979 - Sequence 543003 from Patent EP1572962.
JD504472 - Sequence 485496 from Patent EP1572962.
JD509150 - Sequence 490174 from Patent EP1572962.
JD296213 - Sequence 277237 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03440 - Homologous recombination

Reactome (by CSHL, EBI, and GO)

Protein O43502 (Reactome details) participates in the following event(s):

R-HSA-983285 RAD51B binds RAD51C
R-HSA-5685318 BCDX2 complex formation
R-HSA-5685319 CX3 complex formation
R-HSA-983218 RAD51B:RAD51C binds single-stranded DNA
R-HSA-5685838 CX3 complex binds D-loop structures
R-HSA-5686410 BLM mediates dissolution of double Holliday junction
R-HSA-5693589 D-loop dissociation and strand annealing
R-HSA-5685341 BCDX2 complex stabilizes RAD51 filament
R-HSA-5693593 D-loop extension by DNA polymerases
R-HSA-5686440 MUS81:EME1,EME2 cleaves D-loop
R-HSA-5693584 Cleavage of Holliday junctions by GEN1 or SLX1A:SLX4:MUS81:EME1,(MUS81:EME2)
R-HSA-5693620 D-loop formation mediated by PALB2, BRCA2 and RAD51
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-109582 Hemostasis
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5693537 Resolution of D-Loop Structures
R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
R-HSA-5693538 Homology Directed Repair
R-HSA-5693532 DNA Double-Strand Break Repair
R-HSA-73894 DNA Repair

-  Other Names for This Gene
  Alternate Gene Symbols: NM_058216, NP_478123, O43502, O43503, Q3B783, RA51C_HUMAN, RAD51L2, uc010ddc.3
UCSC ID: uc002iwu.3
RefSeq Accession: NM_058216
Protein: O43502 (aka RA51C_HUMAN or R51C_HUMAN)
CCDS: CCDS11611.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RAD51C:
fa (Fanconi Anemia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_058216.1
exon count: 9CDS single in 3' UTR: no RNA size: 1295
ORF size: 1131CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2462.00frame shift in genome: no % Coverage: 99.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.