Gene: RAD51

Basic information

Tag Content
Uniprot ID Q06609; B0FXP0; B2R8T6; Q6FHX9; Q6ZNA8; Q9BV60;
Entrez ID 5888
Genbank protein ID BAG36283.1; ABY59731.1; EAW92432.1; AAN87149.1; EAW92435.1; CAG38796.1; BAF84658.1; AAD49705.1; BAD18467.1; AAH01459.1; EAW92434.1; BAA02962.1; AAF69145.1; BAA03189.1;
Genbank nucleotide ID NM_002875.4; XM_006720626.3; NM_001164270.1; XM_011521860.2; XM_011521861.2; NM_001164269.1; XM_011521858.2; XM_011521859.2; NM_133487.3; XM_011521857.2;
Ensembl protein ID ENSP00000493712; ENSP00000267868; ENSP00000406602; ENSP00000372088; ENSP00000454176; ENSP00000433924;
Ensembl nucleotide ID ENSG00000051180
Gene name DNA repair protein RAD51 homolog 1
Gene symbol RAD51
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 26507587
Functional description Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination (HR) (PubMed:28575658). Binds to single and double-stranded DNA and exhibits DNA-dependent ATPase activity. Catalyzes the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. Binds to single-stranded DNA in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange (PubMed:26681308). Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51C and XRCC3. Also involved in interstrand cross-link repair (PubMed:26253028).
Sequence
MAMQMQLEAN ADTSVEEESF GPQPISRLEQ CGINANDVKK LEEAGFHTVE AVAYAPKKEL 60
INIKGISEAK ADKILAEAAK LVPMGFTTAT EFHQRRSEII QITTGSKELD KLLQGGIETG 120
SITEMFGEFR TGKTQICHTL AVTCQLPIDR GGGEGKAMYI DTEGTFRPER LLAVAERYGL 180
SGSDVLDNVA YARAFNTDHQ TQLLYQASAM MVESRYALLI VDSATALYRT DYSGRGELSA 240
RQMHLARFLR MLLRLADEFG VAVVITNQVV AQVDGAAMFA ADPKKPIGGN IIAHASTTRL 300
YLRKGRGETR ICKIYDSPCL PEAEAMFAIN ADGVGDAKD 339

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologRAD51514749Q2KJ94Bos taurusPredictionMore>>
1:1 orthologRAD51403568Q8MKI8Canis lupus familiarisPredictionMore>>
1:1 orthologRAD51102177525A0A452G921Capra hircusPredictionMore>>
1:1 orthologRAD515888Q06609Homo sapiensPublicationMore>>
1:1 orthologRad5119361Q08297Mus musculusPredictionMore>>
1:1 orthologRAD51453339A0A2I3SZ08Pan troglodytesPredictionMore>>
1:1 orthologRAD51100141309B0M1M6Sus scrofaPredictionMore>>
1:1 orthologRAD51100008661G1TCL3Oryctolagus cuniculusPredictionMore>>
1:1 orthologRad51499870B5DF04Rattus norvegicusPredictionMore>>
1:1 ortholograd51406487Q5TYR1Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
RAD51rs1801321Genotyping; TDT26507587
RAD51c.725A>G; p.Gln242Arg (heterozygous)trio-WES and Sanger sequencing30907510

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000150 recombinase activityIBA
GO:0003682 chromatin bindingIDA
GO:0003690 double-stranded DNA bindingIBA
GO:0003690 double-stranded DNA bindingIMP
GO:0003690 double-stranded DNA bindingIDA
GO:0003697 single-stranded DNA bindingIBA
GO:0003697 single-stranded DNA bindingIMP
GO:0003697 single-stranded DNA bindingIDA
GO:0005515 protein bindingIPI
GO:0005524 ATP bindingIDA
GO:0008022 protein C-terminus bindingIPI
GO:0008094 DNA-dependent ATPase activityIBA
GO:0017116 single-stranded DNA helicase activityIMP
GO:0017116 single-stranded DNA helicase activityIDA
GO:0019899 enzyme bindingIPI
GO:0042802 identical protein bindingIPI
GO:0070182 DNA polymerase bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0000722 telomere maintenance via recombinationISS
GO:0000724 double-strand break repair via homologous recombinationTAS
GO:0000724 double-strand break repair via homologous recombinationIDA
GO:0000724 double-strand break repair via homologous recombinationIMP
GO:0000730 DNA recombinase assemblyIBA
GO:0000730 DNA recombinase assemblyIMP
GO:0001932 regulation of protein phosphorylationIEA
GO:0006268 DNA unwinding involved in DNA replicationIDA
GO:0006281 DNA repairTAS
GO:0006310 DNA recombinationTAS
GO:0006312 mitotic recombinationIBA
GO:0006974 cellular response to DNA damage stimulusIDA
GO:0006974 cellular response to DNA damage stimulusIMP
GO:0007131 reciprocal meiotic recombinationIBA
GO:0010165 response to X-rayIEA
GO:0010212 response to ionizing radiationIBA
GO:0010569 regulation of double-strand break repair via homologous recombinationIDA
GO:0010833 telomere maintenance via telomere lengtheningISS
GO:0031297 replication fork processingIMP
GO:0031297 replication fork processingIDA
GO:0036297 interstrand cross-link repairIMP
GO:0042148 strand invasionIBA
GO:0051106 positive regulation of DNA ligationIDA
GO:0051321 meiotic cell cycleISS
GO:0070192 chromosome organization involved in meiotic cell cycleIBA
GO:0070317 negative regulation of G0 to G1 transitionTAS
GO:0071479 cellular response to ionizing radiationIDA
GO:0071480 cellular response to gamma radiationIEA
GO:0072711 cellular response to hydroxyureaIEA
GO:0072719 cellular response to cisplatinIEA
GO:0072757 cellular response to camptothecinIDA
GO:1904631 response to glucosideIEA
GO:1990414 replication-born double-strand break repair via sister chromatid exchangeIEA
GO:1990426 mitotic recombination-dependent replication fork processingIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0000228 nuclear chromosomeIDA
GO:0000784 nuclear chromosome, telomeric regionIDA
GO:0000785 chromatinIDA
GO:0000790 nuclear chromatinIDA
GO:0000793 condensed chromosomeISS
GO:0000794 condensed nuclear chromosomeISS
GO:0000794 condensed nuclear chromosomeIBA
GO:0000800 lateral elementIDA
GO:0005634 nucleusISS
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmTAS
GO:0005737 cytoplasmIDA
GO:0005739 mitochondrionIDA
GO:0005759 mitochondrial matrixIEA
GO:0005815 microtubule organizing centerIEA
GO:0016605 PML bodyIDA
GO:0032991 protein-containing complexIDA
GO:0035861 site of double-strand breakIDA
GO:0048471 perinuclear region of cytoplasmIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1474165 ReproductionIEA
R-HSA-1500620 MeiosisIEA
R-HSA-1640170 Cell CycleIEA
R-HSA-212436 Generic Transcription PathwayTAS
R-HSA-5685938 HDR through Single Strand Annealing (SSA)TAS
R-HSA-5685942 HDR through Homologous Recombination (HRR)TAS
R-HSA-5693532 DNA Double-Strand Break RepairTAS
R-HSA-5693537 Resolution of D-Loop StructuresTAS
R-HSA-5693538 Homology Directed RepairTAS
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)TAS
R-HSA-5693567 HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)TAS
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction IntermediatesTAS
R-HSA-5693579 Homologous DNA Pairing and Strand ExchangeTAS
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchangeTAS
R-HSA-73857 RNA Polymerase II TranscriptionTAS
R-HSA-73894 DNA RepairTAS
R-HSA-74160 Gene expression (Transcription)TAS
R-HSA-8953750 Transcriptional Regulation by E2F6TAS
R-HSA-912446 Meiotic recombinationIEA

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0007 Acetylation
KW-0025 Alternative splicing
KW-0067 ATP-binding
KW-0158 Chromosome
KW-0963 Cytoplasm
KW-0206 Cytoskeleton
KW-0225 Disease mutation
KW-0227 DNA damage
KW-0233 DNA recombination
KW-0234 DNA repair
KW-0238 DNA-binding
KW-0923 Fanconi anemia
KW-1017 Isopeptide bond
KW-0496 Mitochondrion
KW-0547 Nucleotide-binding
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR003593 AAA+_ATPase
IPR011941 DNA_recomb/repair_Rad51
IPR013632 DNA_recomb/repair_Rad51_C
IPR016467 DNA_recomb/repair_RecA-like
IPR010995 DNA_repair_Rad51/TF_NusA_a-hlx
IPR027417 P-loop_NTPase
IPR033925 Rad51_DMC1_RadA
IPR020588 RecA_ATP-bd
IPR020587 RecA_monomer-monomer_interface

PROSITE

PROSITE ID PROSITE Term
PS50162 RECA_2
PS50163 RECA_3

Pfam

Pfam ID Pfam Term
PF08423 Rad51

Protein-protein interaction

Protein-miRNA interaction