NAME: Double-Strand Break Repair

ID ApprovedSymbol EntrezGene HGNC UniGeneID Affymetrics HugoName UniGeneName GeneOntologyID ENSG ENSP KEGGID ApprovedSymbol2 PreviousSymbols NCIName Evidence Chromosome Status Reactome_ID Aliases StringSymbol StringName
472 ATM 472 HGNC:795 Hs.367437 1553387_at
1554631_at
1570352_at
208442_s_at
210858_x_at
212672_at
ataxia telangiectasia mutated Ataxia telangiectasia mutated ENSG00000149311 ENSP00000278616 hsa+472 ATM ATA, ATDC, ATC, ATD ATM 11q22-q23 Approved TEL1, TELO1 ATM ataxia telangiectasia mutated; Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylate [...]
672 BRCA1 672 HGNC:1100 Hs.194143 204531_s_at
211851_x_at
breast cancer 1, early onset Breast cancer 1, early onset GO:0000724 GO:0008630 ENSG00000012048 ENSP00000350283 BRCA1 BRCA1 IDA 17q21-q24 Approved REACT_216 RNF53, BRCC1 RNF53 breast cancer 1, early onset; The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Plays a central role in DNA repair by facilitating cellular response to DNA repair. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage [...]
675 BRCA2 675 HGNC:1101 Hs.34012 208368_s_at
214727_at
breast cancer 2, early onset Breast cancer 2, early onset GO:0006289 ENSG00000139618 ENSP00000369497 hsa+675 BRCA2 FANCD1, FACD, FANCD BRCA2 IMP 13q12-q13 Approved FAD, FAD1, BRCC2 BRCA2 breast cancer 2, early onset; Involved in double-strand break repair and/or homologous recombination. May participate in S phase checkpoint activation
83990 BRIP1 83990 HGNC:20473 Hs.532799 221703_at
235609_at
BRCA1 interacting protein C-terminal helicase 1 BRCA1 interacting protein C-terminal helicase 1 ENSG00000136492 ENSP00000259008 BRIP1 BRIP1 17q22.2 Approved OF, BACH1, FANCJ BRIP1 BRCA1 interacting protein C-terminal helicase 1; DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1
3014 H2AFX 3014 HGNC:4739 Hs.477879 205436_s_at
212524_x_at
212525_s_at
213344_s_at
H2A histone family, member X H2A histone family, member X ENSG00000188486 ENSP00000364310 H2AFX H2AX H2AFX 11q23.3 Approved H2AFX H2A histone family, member X; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Required for checkpoint-mediated arrest of cell cycle progression in resp [...]
3978 LIG1 3978 HGNC:6598 Hs.1770 202726_at
ligase I, DNA, ATP-dependent Ligase I, DNA, ATP-dependent GO:0006297 ENSG00000105486 ENSP00000263274 hsa+3978 LIG1 LIG1 EXP 19q13.2-q13.3 Approved ENSG00000105486 ligase I, DNA, ATP-dependent; DNA ligase that seals nicks in double-stranded DNA during DNA replication, DNA recombination and DNA repair
9656 MDC1 9656 HGNC:21163 203061_s_at
203062_s_at
mediator of DNA-damage checkpoint 1 ENSG00000137337 ENSP00000373060 MDC1 6p21.3 Approved NFBD1, KIAA0170, Em:AB023051.5 mediator of DNA-damage checkpoint 1
4361 MRE11A 4361 HGNC:7230 Hs.192649 205395_s_at
211334_at
242456_at
MRE11 meiotic recombination 11 homolog A (S. cerevisiae) MRE11 meiotic recombination 11 homolog A (S. cerevisiae) ENSG00000020922 ENSP00000325863 hsa+4361 MRE11A MRE11 MRE11A 11q21 Approved ATLD MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae); Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA li [...]
4683 NBN 4683 HGNC:7652 Hs.492208 202905_x_at
202906_s_at
202907_s_at
217299_s_at
240510_at
nibrin Nibrin ENSG00000104320 ENSP00000265433 hsa+4683 NBN NBS, NBS1 NBN 8q21-q24 Approved ATV, AT-V2, AT-V1 NBN nibrin; Component of the MRE11/RAD50/NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recru [...]
10111 RAD50 10111 HGNC:9816 Hs.655835 208393_s_at
209349_at
RAD50 homolog (S. cerevisiae) RAD50 homolog (S. cerevisiae) ENSG00000113522 ENSP00000265335 hsa+10111 RAD50 RAD50 5q23-q31 Approved hRad50, RAD50-2 RAD50 RAD50 homolog (S. cerevisiae); Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the n [...]
5888 RAD51 5888 HGNC:9817 Hs.631709 205023_at
205024_s_at
RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) ENSG00000051180 ENSP00000267868 hsa+5888 RAD51 RAD51A, RECA RAD51 15q15.1 Approved HsRad51, HsT16930, BRCC5 RAD51 RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae); May participate 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
5893 RAD52 5893 HGNC:9824 Hs.709202 205647_at
210630_s_at
211904_x_at
236880_at
RAD52 homolog (S. cerevisiae) RAD52 homolog (S. cerevisiae) ENSG00000002016 ENSP00000351284 hsa+5893 RAD52 RAD52 12p13-p12.2 Approved RAD52 RAD52 homolog (S. cerevisiae); Involved in double-stranded break repair. Plays a central role in genetic recombination and DNA repair by promoting the annealing of complementary single-stranded DNA and by stimulation of the RAD51 recombinase
6117 RPA1 6117 HGNC:10289 Hs.461925 201528_at
201529_s_at
236675_at
replication protein A1, 70kDa Replication protein A1, 70kDa GO:0000718 GO:0006297 ENSG00000132383 ENSP00000254719 hsa+6117 RPA1 RPA1 EXP 17p13.3 Approved REPA1, RPA70, HSSB, RF-A, RP-A MST075 replication protein A1, 70kDa; Plays an essential role in several cellular processes in DNA metabolism including replication, recombination and DNA repair. Binds and subsequently stabilizes single-stranded DNA intermediates and thus prevents complementary DNA from reannealing
6118 RPA2 6118 HGNC:10290 Hs.79411 201756_at
replication protein A2, 32kDa Replication protein A2, 32kDa GO:0000718 GO:0006297 ENSG00000117748 ENSP00000363021 hsa+6118 RPA2 RPA2 EXP 1p35 Approved RPA2 replication protein A2, 32kDa; Required for DNA recombination, repair and replication. The activity of RP-A is mediated by single-stranded DNA binding and protein interactions
6119 RPA3 6119 HGNC:10291 Hs.487540 209507_at
replication protein A3, 14kDa Replication protein A3, 14kDa GO:0000718 GO:0006297 ENSG00000106399 ENSP00000223129 hsa+6119 RPA3 RPA3 EXP 7 Approved REPA3 RPA3 replication protein A3, 14kDa; Required for DNA recombination, repair and replication. The activity of RP-A is mediated by single-stranded DNA binding and protein interactions
7158 TP53BP1 7158 HGNC:11999 Hs.440968 1569097_at
1569098_s_at
203050_at
tumor protein p53 binding protein 1 Tumor protein p53 binding protein 1 ENSG00000067369 ENSP00000371475 TP53BP1 TP53BP1 15q15-q21 Approved 53BP1, p202 TP53BP1 tumor protein p53 binding protein 1; May have a role in checkpoint signaling during mitosis (By similarity). Enhances TP53-mediated transcriptional activation. Plays a role in the response to DNA damage
16 genes found.

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ID ApprovedSymbol EntrezGene HGNC
UniGeneID HugoName UniGeneName GeneOntologyID
ENSG ENSP KEGGID ApprovedSymbol2
PreviousSymbols NCIName Evidence Chromosome
Status Reactome_ID Aliases StringSymbol
StringName Affymetrics


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