ENSG00000185379


Homo sapiens

Features
Gene ID: ENSG00000185379
  
Biological name :RAD51D
  
Synonyms : O75771 / RAD51D / RAD51 paralog D
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q12
Gene start: 35092208
Gene end: 35121522
  
Corresponding Affymetrix probe sets: 209965_s_at (Human Genome U133 Plus 2.0 Array)   37793_r_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000468724
Ensembl peptide - ENSP00000468764
Ensembl peptide - ENSP00000338408
Ensembl peptide - ENSP00000338790
Ensembl peptide - ENSP00000378090
Ensembl peptide - ENSP00000464356
Ensembl peptide - ENSP00000465007
Ensembl peptide - ENSP00000465033
Ensembl peptide - ENSP00000465366
Ensembl peptide - ENSP00000465584
Ensembl peptide - ENSP00000465612
Ensembl peptide - ENSP00000466399
Ensembl peptide - ENSP00000466478
Ensembl peptide - ENSP00000466587
Ensembl peptide - ENSP00000466839
Ensembl peptide - ENSP00000468273
NCBI entrez gene - 5892     See in Manteia.
OMIM - 602954
RefSeq - NM_002878
RefSeq - NM_133629
RefSeq - NM_001142571
RefSeq Peptide - NP_001136043
RefSeq Peptide - NP_002869
RefSeq Peptide - NP_598332
swissprot - K7ESI1
swissprot - K7ESL4
swissprot - O75771
swissprot - H0UID0
swissprot - K7EJ58
swissprot - K7EKG7
swissprot - K7EMF1
swissprot - K7EN92
swissprot - K7ERM7
Ensembl - ENSG00000185379
  
Related genetic diseases (OMIM): 614291 - {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rad51dENSDARG00000026400Danio rerio
 RAD51DENSGALG00000031918Gallus gallus
 O55230ENSMUSG00000018841Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O15315 / RAD51B / RAD51 paralog BENSG0000018218524
O43502 / RAD51C / RAD51 paralog CENSG0000010838422
XRCC3 / O43542 / X-ray repair cross complementing 3ENSG0000012621520


Protein motifs (from Interpro)
Interpro ID Name
 IPR003593  AAA+ ATPase domain
 IPR013632  DNA recombination and repair protein Rad51-like, C-terminal
 IPR016467  DNA recombination and repair protein, RecA-like
 IPR020588  DNA recombination and repair protein RecA-like, ATP-binding domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR033925  Rad51/DMC1/RadA


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000707 meiotic DNA recombinase assembly IBA
 biological_processGO:0000723 telomere maintenance IEA
 biological_processGO:0000724 double-strand break repair via homologous recombination IMP
 biological_processGO:0000731 DNA synthesis involved in DNA repair TAS
 biological_processGO:0000732 strand displacement TAS
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006289 nucleotide-excision repair IEA
 biological_processGO:0006310 DNA recombination IEA
 biological_processGO:0006312 mitotic recombination IBA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007131 reciprocal meiotic recombination TAS
 biological_processGO:0010212 response to ionizing radiation IBA
 biological_processGO:0036297 interstrand cross-link repair IEA
 biological_processGO:0042148 strand invasion IDA
 biological_processGO:0051276 chromosome organization IEA
 biological_processGO:0051726 regulation of cell cycle IEA
 cellular_componentGO:0000781 chromosome, telomeric region IEA
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IEA
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005657 replication fork IDA
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0033063 Rad51B-Rad51C-Rad51D-XRCC2 complex IDA
 molecular_functionGO:0000150 recombinase activity IBA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000400 four-way junction DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003690 double-stranded DNA binding IBA
 molecular_functionGO:0003697 single-stranded DNA binding IDA
 molecular_functionGO:0004520 endodeoxyribonuclease activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008094 DNA-dependent ATPase activity IEA
 molecular_functionGO:0043015 gamma-tubulin binding IDA


Pathways (from Reactome)
Pathway description
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Presynaptic phase of homologous DNA pairing and strand exchange
TP53 Regulates Transcription of DNA Repair Genes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
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 HP:0002894 Pancreatic cancer 
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 HP:0003002 Breast cancer 
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 HP:0011027 Abnormality of the fallopian tube "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson]
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 HP:0012125 Prostate cancer "A cancer of the `prostate` (FMA:9600)." [HPO:probinson]
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 HP:0030406 Primary peritoneal carcinoma "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson]
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 HP:0100615 Ovarian neoplasm "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000108384 O43502 / RAD51C / RAD51 paralog C  / complex / reaction
 ENSG00000182185 O15315 / RAD51B / RAD51 paralog B  / reaction / complex
 ENSG00000083093 PALB2 / Q86YC2 / partner and localizer of BRCA2  / reaction
 ENSG00000111247 Q96B01 / RAD51AP1 / RAD51 associated protein 1  / reaction
 ENSG00000196584 XRCC2 / O43543 / X-ray repair cross complementing 2  / reaction / complex






 

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