NAME: Nucleotide Excision Repair

ID ApprovedSymbol EntrezGene HGNC UniGeneID Affymetrics HugoName UniGeneName GeneOntologyID ENSG ENSP KEGGID ApprovedSymbol2 PreviousSymbols NCIName Evidence Chromosome Status Reactome_ID Aliases StringSymbol StringName
64421 DCLRE1C 64421 HGNC:17642 Hs.656065 219678_x_at
222233_s_at
235478_at
242927_at
DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) ENSG00000152457 ENSP00000367527 hsa+64421 DCLRE1C SCIDA DCLRE1C 10p13 Approved ARTEMIS, FLJ11360, SNM1C, A-SCID DCLRE1C DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae); Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joi [...]
1791 DNTT 1791 HGNC:2983 Hs.534206 1566362_at
1566363_at
210487_at
deoxynucleotidyltransferase, terminal Deoxynucleotidyltransferase, terminal ENSG00000107447 ENSP00000360216 hsa+1791 DNTT DNTT 10q23-q24 Approved TDT DNTT deoxynucleotidyltransferase, terminal; Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5'-triphosphate to the 3'-end of a DNA initiator. One of the in vivo functions of this enzyme is the addition of nucleotides at the junction (N region) of rearranged Ig heavy chain and T-cell receptor gene segments during the maturation of B- and T-cells
2237 FEN1 2237 HGNC:3650 Hs.409065 204767_s_at
204768_s_at
flap structure-specific endonuclease 1 Flap structure-specific endonuclease 1 ENSG00000168496 ENSP00000305480 hsa+2237 FEN1 RAD2 FEN1 11q12 Approved FEN-1, MF1 RAD2 flap structure-specific endonuclease 1; Endonuclease that cleaves the 5'-overhanging flap structure that is generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. Also possesses 5' to 3' exonuclease activity on niked or gapped double-stranded DNA, and exhibits RNase H activity
3981 LIG4 3981 HGNC:6601 Hs.166091 206235_at
227766_at
ligase IV, DNA, ATP-dependent Ligase IV, DNA, ATP-dependent GO:0006297 GO:0006303 ENSG00000174405 ENSP00000349393 hsa+3981 LIG4 LIG4 IDA IMP 13q33-q34 Approved LIG4 ligase IV, DNA, ATP-dependent; Efficiently joins single-strand breaks in a double- stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA- dependent protein kinase complex DNA-PK to these DNA ends
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 [...]
79840 NHEJ1 79840 HGNC:25737 Hs.225988 219418_at
nonhomologous end-joining factor 1 Nonhomologous end-joining factor 1 GO:0006303 ENSG00000187736 ENSP00000349313 hsa+79840 NHEJ1 NHEJ1 IMP 2q35 Approved Cernunnos, XLF, FLJ12610 SVCT3 nonhomologous end-joining factor 1; DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary
5422 POLA1 5422 HGNC:9173 Hs.567319 204835_at
polymerase (DNA directed), alpha 1, catalytic subunit Polymerase (DNA directed), alpha 1, catalytic subunit GO:0006303 ENSG00000101868 ENSP00000368349 POLA1 POLA POLA1 IMP Xp22.1-p21.3 Approved p180 POLA1 polymerase (DNA directed), alpha 1, catalytic subunit; Plays an essential role in the initiation of DNA replication. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1/p180, a regulatory subunit POLA2/p70 and two primase subunits PRIM1/p49 and PRIM2/p58) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by [...]
27343 POLL 27343 HGNC:9184 Hs.523230 221049_s_at
polymerase (DNA directed), lambda Polymerase (DNA directed), lambda GO:0006289 ENSG00000166169 ENSP00000299206 hsa+27343 POLL POLL IDA 10q23 Approved POLL polymerase (DNA directed), lambda; Repair polymerase. Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA. Has both DNA polymerase and terminal transferase activities. Has a 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity
27434 POLM 27434 HGNC:9185 Hs.596982 222238_s_at
polymerase (DNA directed), mu Hypothetical protein LOC100132763 ENSG00000122678 ENSP00000242248 hsa+27434 POLM POLM 7p13 Approved Tdt-N POLM polymerase (DNA directed), mu; Seems to act as an Ig mutase which is responsible for immunoglobulin (Ig) gene hypermutation
5591 PRKDC 5591 HGNC:9413 Hs.491682 208694_at
210543_s_at
215757_at
protein kinase, DNA-activated, catalytic polypeptide Protein kinase, DNA-activated, catalytic polypeptide ENSG00000121031 ENSP00000313420 hsa+5591 PRKDC HYRC, HYRC1 PRKDC 8q11 Approved REACT_216 DNPK1, p350, DNAPK, XRCC7, DNA-PKcs HYRC protein kinase, DNA-activated, catalytic polypeptide; Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also [...]
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 [...]
7518 XRCC4 7518 HGNC:12831 Hs.567359 205071_x_at
205072_s_at
210812_at
210813_s_at
X-ray repair complementing defective repair in Chinese hamster cells 4 X-ray repair complementing defective repair in Chinese hamster cells 4 GO:0006303 ENSG00000152422 ENSP00000342011 hsa+7518 XRCC4 XRCC4 IDA IMP 5q14.2 Approved XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4; Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends
7520 XRCC5 7520 HGNC:12833 Hs.388739 208642_s_at
208643_s_at
232633_at
X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) ENSG00000079246 ENSP00000329528 hsa+7520 XRCC5 XRCC5 2q35 Approved KU80, KARP-1, Ku86, KUB2 KU80 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining); Single stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to DNA may be mediated by p70. Involved in DNA nonhomologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The Ku p70/p86 dimer acts as regulatory subunit of the DNA-dependent protein kinase [...]
2547 XRCC6 2547 HGNC:4055 Hs.292493 200792_at
215308_at
X-ray repair complementing defective repair in Chinese hamster cells 6 X-ray repair complementing defective repair in Chinese hamster cells 6 ENSG00000196419 ENSP00000352257 hsa+2547 XRCC6 G22P1 XRCC6 22q13.2 Approved D22S731, D22S671, KU70, ML8 ML8 X-ray repair complementing defective repair in Chinese hamster cells 6; Single stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to DNA may be mediated by p70. Involved in DNA nonhomologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The Ku p70/p86 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the [...]
14 genes found.

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