Gene: Rad51

Basic information

Tag Content
Uniprot ID Q08297; Q3UAY5;
Entrez ID 19361
Genbank protein ID BAA02961.1; BAA02718.1; BAC36357.1; AAH27384.1; BAE30162.1; BAE30179.1; BAB27489.1;
Genbank nucleotide ID NM_011234.4
Ensembl protein ID ENSMUSP00000028795
Ensembl nucleotide ID ENSMUSG00000027323
Gene name DNA repair protein RAD51 homolog 1
Gene symbol Rad51
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination (HR) (PubMed:15834424). 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. 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 (By similarity).
Sequence
MAMQMQLEAS ADTSVEEESF GPQPISRLEQ CGINANDVKK LEEAGYHTVE AVAYAPKKEL 60
INIKGISEAK ADKILTEAAK LVPMGFTTAT EFHQRRSEII QITTGSKELD KLLQGGIETG 120
SITEMFGEFR TGKTQICHTL AVTCQLPIDR GGGEGKAMYI DTEGTFRPER LLAVAERYGL 180
SGSDVLDNVA YARGFNTDHQ 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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

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

Gene Ontology (GO)/biological pathways

GO:Molecular Function

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

GO:Biological Process

GO ID GO Term Evidence
GO:0000722 telomere maintenance via recombinationIGI
GO:0000724 double-strand break repair via homologous recombinationISO
GO:0000724 double-strand break repair via homologous recombinationIDA
GO:0000724 double-strand break repair via homologous recombinationIMP
GO:0000730 DNA recombinase assemblyISS
GO:0000730 DNA recombinase assemblyISO
GO:0000730 DNA recombinase assemblyIBA
GO:0001932 regulation of protein phosphorylationIMP
GO:0006268 DNA unwinding involved in DNA replicationISS
GO:0006268 DNA unwinding involved in DNA replicationISO
GO:0006281 DNA repairTAS
GO:0006312 mitotic recombinationIBA
GO:0006974 cellular response to DNA damage stimulusISS
GO:0006974 cellular response to DNA damage stimulusISO
GO:0006974 cellular response to DNA damage stimulusTAS
GO:0007131 reciprocal meiotic recombinationIBA
GO:0007131 reciprocal meiotic recombinationTAS
GO:0010165 response to X-rayIEA
GO:0010212 response to ionizing radiationIBA
GO:0010569 regulation of double-strand break repair via homologous recombinationISS
GO:0010569 regulation of double-strand break repair via homologous recombinationISO
GO:0010833 telomere maintenance via telomere lengtheningIGI
GO:0031297 replication fork processingISO
GO:0031297 replication fork processingIMP
GO:0032200 telomere organizationIMP
GO:0036297 interstrand cross-link repairISS
GO:0036297 interstrand cross-link repairISO
GO:0042148 strand invasionIBA
GO:0051106 positive regulation of DNA ligationISO
GO:0051260 protein homooligomerizationISO
GO:0051321 meiotic cell cycleIDA
GO:0070192 chromosome organization involved in meiotic cell cycleIBA
GO:0070192 chromosome organization involved in meiotic cell cycleIMP
GO:0071312 cellular response to alkaloidIMP
GO:0071479 cellular response to ionizing radiationISS
GO:0071479 cellular response to ionizing radiationISO
GO:0071480 cellular response to gamma radiationIEA
GO:0072711 cellular response to hydroxyureaIMP
GO:0072719 cellular response to cisplatinIEA
GO:0072757 cellular response to camptothecinISS
GO:0072757 cellular response to camptothecinISO
GO:1904631 response to glucosideIEA
GO:1990414 replication-born double-strand break repair via sister chromatid exchangeIMP
GO:1990426 mitotic recombination-dependent replication fork processingIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0000228 nuclear chromosomeISS
GO:0000228 nuclear chromosomeISO
GO:0000784 nuclear chromosome, telomeric regionISO
GO:0000784 nuclear chromosome, telomeric regionIDA
GO:0000785 chromatinISO
GO:0000790 nuclear chromatinISO
GO:0000793 condensed chromosomeIDA
GO:0000794 condensed nuclear chromosomeIDA
GO:0000794 condensed nuclear chromosomeIBA
GO:0000795 synaptonemal complexTAS
GO:0000800 lateral elementIDA
GO:0000800 lateral elementISO
GO:0005634 nucleusISS
GO:0005634 nucleusISO
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmTAS
GO:0005737 cytoplasmISS
GO:0005737 cytoplasmISO
GO:0005739 mitochondrionISO
GO:0005759 mitochondrial matrixIEA
GO:0005815 microtubule organizing centerIEA
GO:0016605 PML bodyISO
GO:0032991 protein-containing complexISO
GO:0035861 site of double-strand breakISO
GO:0048471 perinuclear region of cytoplasmISS
GO:0048471 perinuclear region of cytoplasmISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-5685938 HDR through Single Strand Annealing (SSA)IEA
R-MMU-5685942 HDR through Homologous Recombination (HRR)IEA
R-MMU-5693532 DNA Double-Strand Break RepairIEA
R-MMU-5693537 Resolution of D-Loop StructuresIEA
R-MMU-5693538 Homology Directed RepairIEA
R-MMU-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)IEA
R-MMU-5693567 HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)IEA
R-MMU-5693568 Resolution of D-loop Structures through Holliday Junction IntermediatesIEA
R-MMU-5693579 Homologous DNA Pairing and Strand ExchangeIEA
R-MMU-5693616 Presynaptic phase of homologous DNA pairing and strand exchangeIEA
R-MMU-73894 DNA RepairIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0067 ATP-binding
KW-0158 Chromosome
KW-0963 Cytoplasm
KW-0206 Cytoskeleton
KW-0227 DNA damage
KW-0233 DNA recombination
KW-0234 DNA repair
KW-0238 DNA-binding
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