Human Gene RAD51 (ENST00000267868.8) from GENCODE V44
Description: Homo sapiens RAD51 recombinase (RAD51), transcript variant 1, mRNA. (from RefSeq NM_002875) RefSeq Summary (NM_002875): The protein encoded by this gene is a member of the RAD51 protein 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 the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]. Gencode Transcript: ENST00000267868.8 Gencode Gene: ENSG00000051180.17 Transcript (Including UTRs) Position: hg38 chr15:40,695,174-40,732,340 Size: 37,167 Total Exon Count: 10 Strand: + Coding Region Position: hg38 chr15:40,698,759-40,731,178 Size: 32,420 Coding Exon Count: 9
ID:RAD51_HUMAN DESCRIPTION: RecName: Full=DNA repair protein RAD51 homolog 1; Short=HsRAD51; Short=hRAD51; AltName: Full=RAD51 homolog A; FUNCTION: Participates in a common DNA damage response pathway associated with the activation of homologous recombination and double-strand break repair. Binds to single and double stranded DNA and exhibits DNA-dependent ATPase activity. Underwinds duplex DNA and forms helical nucleoprotein filaments. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51C and XRCC3. SUBUNIT: Interacts with BRCA1, BRCA2 and either directly or indirectly with p53. Interacts with XRCC3, RAD54L and RAD54B. Part of a complex with RAD51C and RAD51B. Interacts with RAD51AP1 and RAD51AP2. Interacts with CHEK1, and this may require prior phosphorylation of CHEK1. Interacts with the MND1-PSMC3IP heterodimer (By similarity). Interacts with NABP2. Interacts with RPA1, PALB2 and RAD51. Interacts with SWI5/C9orf119, and at lower level with SFR1/MEIR5. Interacts with hyperphosphorylated RPA2; this interaction is necessary for efficient recruitment to chromatin in response to DNA damage. Interacts with SWSAP1; involved in homologous recombination repair. Interacts with C12orf48/PARI; interfering with the formation of the RAD51-DNA homologous recombination structure. INTERACTION: Self; NbExp=3; IntAct=EBI-297202, EBI-297202; P51587:BRCA2; NbExp=19; IntAct=EBI-297202, EBI-79792; O14757:CHEK1; NbExp=3; IntAct=EBI-297202, EBI-974488; Q96B01-2:RAD51AP1; NbExp=4; IntAct=EBI-297202, EBI-1178743; Q96B01-3:RAD51AP1; NbExp=5; IntAct=EBI-297202, EBI-1178748; P43351:RAD52; NbExp=3; IntAct=EBI-297202, EBI-706448; Q6NVH7:SWSAP1; NbExp=2; IntAct=EBI-297202, EBI-5281637; P04637:TP53; NbExp=2; IntAct=EBI-297202, EBI-366083; SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Mitochondrion matrix. Note=Colocalizes with RAD51AP1 and RPA2 to multiple nuclear foci upon induction of DNA damage. DNA damage induces an increase in nuclear levels. TISSUE SPECIFICITY: Highly expressed in testis and thymus, followed by small intestine, placenta, colon, pancreas and ovary. Weakly expressed in breast. INDUCTION: Stress-induced increase in the mitochondrial levels is seen. DOMAIN: The nuclear localization may reside in the C-terminus (between 259 and 339 AA). PTM: Phosphorylated. Phosphorylation of Thr-309 by CHEK1 may enhance association with chromatin at sites of DNA damage and promote DNA repair by homologous recombination. Phosphorylation by ABL1 inhibits function. DISEASE: Defects in RAD51 are a cause of susceptibility to breast cancer (BC) [MIM:114480]. A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. DISEASE: Defects in RAD51 are the cause of mirror movements type 2 (MRMV2) [MIM:614508]. A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. SIMILARITY: Belongs to the RecA family. RAD51 subfamily. SIMILARITY: Contains 1 HhH domain. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rad51/";
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.
ModBase Predicted Comparative 3D Structure on Q06609
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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.
EU362635 - Homo sapiens Rad51 variant mRNA, complete cds, alternatively spliced. BC001459 - Homo sapiens RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae), mRNA (cDNA clone MGC:2244 IMAGE:3139011), complete cds. AK313503 - Homo sapiens cDNA, FLJ94059, Homo sapiens RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)(RAD51), transcript variant 1, mRNA. AK291969 - Homo sapiens cDNA FLJ78599 complete cds. AK303089 - Homo sapiens cDNA FLJ54207 complete cds, moderately similar to Homo sapiens RAD51 homolog, transcript variant 2, mRNA. AK131299 - Homo sapiens cDNA FLJ16262 fis, clone IMR322008651, highly similar to DNA REPAIR PROTEIN RAD51. D14134 - Homo sapiens mRNA for RAD51, complete cds. D13804 - Homo sapiens mRNA for RecA-like protein HsRad51, complete cds. E09404 - RAD51 structural gene. JD221133 - Sequence 202157 from Patent EP1572962. JD235031 - Sequence 216055 from Patent EP1572962. JD480300 - Sequence 461324 from Patent EP1572962. JD540317 - Sequence 521341 from Patent EP1572962. AB528640 - Synthetic construct DNA, clone: pF1KB6422, Homo sapiens RAD51 gene for RAD51 homolog, without stop codon, in Flexi system. BT019705 - Homo sapiens RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) mRNA, complete cds. KJ901692 - Synthetic construct Homo sapiens clone ccsbBroadEn_11086 RAD51 gene, encodes complete protein. CR536559 - Homo sapiens full open reading frame cDNA clone RZPDo834H1120D for gene RAD51, RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae); complete cds, incl. stopcodon. AY425955 - Homo sapiens Rad51 mRNA, partial cds, alternatively spliced. AY608888 - Homo sapiens truncated RAD51 (RAD51) mRNA, partial cds, alternatively spliced. JD355290 - Sequence 336314 from Patent EP1572962. JD501706 - Sequence 482730 from Patent EP1572962. JD410953 - Sequence 391977 from Patent EP1572962. JD175417 - Sequence 156441 from Patent EP1572962. JD548957 - Sequence 529981 from Patent EP1572962. JD317906 - Sequence 298930 from Patent EP1572962. JD157894 - Sequence 138918 from Patent EP1572962. JD442090 - Sequence 423114 from Patent EP1572962. JD229901 - Sequence 210925 from Patent EP1572962. JD356972 - Sequence 337996 from Patent EP1572962. JD082946 - Sequence 63970 from Patent EP1572962. JD455790 - Sequence 436814 from Patent EP1572962. JD548614 - Sequence 529638 from Patent EP1572962. JD494547 - Sequence 475571 from Patent EP1572962. JD261883 - Sequence 242907 from Patent EP1572962. JD431749 - Sequence 412773 from Patent EP1572962. JD201399 - Sequence 182423 from Patent EP1572962. CQ873813 - Sequence 232 from Patent WO2004076622. DD413650 - Regulation of Mammalian Cells. JD302938 - Sequence 283962 from Patent EP1572962. JD061452 - Sequence 42476 from Patent EP1572962. JD237111 - Sequence 218135 from Patent EP1572962. JD310400 - Sequence 291424 from Patent EP1572962. JD070976 - Sequence 52000 from Patent EP1572962. JD194097 - Sequence 175121 from Patent EP1572962. JD400393 - Sequence 381417 from Patent EP1572962. JD400394 - Sequence 381418 from Patent EP1572962. JD424849 - Sequence 405873 from Patent EP1572962. JD171142 - Sequence 152166 from Patent EP1572962. JD060223 - Sequence 41247 from Patent EP1572962. JD113339 - Sequence 94363 from Patent EP1572962. JD517084 - Sequence 498108 from Patent EP1572962. JD220007 - Sequence 201031 from Patent EP1572962. JD369138 - Sequence 350162 from Patent EP1572962. JD046190 - Sequence 27214 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03440 - Homologous recombination hsa05200 - Pathways in cancer hsa05212 - Pancreatic cancer
BioCarta from NCI Cancer Genome Anatomy Project h_atmPathway - ATM Signaling Pathway h_atrbrcaPathway - Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility
Reactome (by CSHL, EBI, and GO)
Protein Q06609 (Reactome details) participates in the following event(s):
R-HSA-5685230 CHEK1 phosphorylates RAD51 R-HSA-5693564 Association of RAD51 with RAD52:DNA double-strand break ends R-HSA-5686657 ERCC1:XPF cleaves flaps generated by SSA R-HSA-5693561 RAD51 binds BRCA2 at resected DNA DSBs R-HSA-5686642 RAD52 promotes single strand annealing at resected DNA DSBs 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-5693620 D-loop formation mediated by PALB2, BRCA2 and RAD51 R-HSA-5685838 CX3 complex binds D-loop structures R-HSA-5693593 D-loop extension by DNA polymerases R-HSA-5693584 Cleavage of Holliday junctions by GEN1 or SLX1A:SLX4:MUS81:EME1,(MUS81:EME2) R-HSA-5686440 MUS81:EME1,EME2 cleaves D-loop R-HSA-912446 Meiotic recombination R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange R-HSA-5685938 HDR through Single Strand Annealing (SSA) R-HSA-8953750 Transcriptional Regulation by E2F6 R-HSA-1500620 Meiosis R-HSA-5693579 Homologous DNA Pairing and Strand Exchange R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) R-HSA-212436 Generic Transcription Pathway 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-1474165 Reproduction R-HSA-1640170 Cell Cycle R-HSA-5685942 HDR through Homologous Recombination (HRR) R-HSA-5693538 Homology Directed Repair R-HSA-73857 RNA Polymerase II Transcription R-HSA-5693537 Resolution of D-Loop Structures R-HSA-5693532 DNA Double-Strand Break Repair R-HSA-74160 Gene expression (Transcription) R-HSA-73894 DNA Repair
US Server
