NAME: Mismatch Repair

ID ApprovedSymbol EntrezGene HGNC UniGeneID Affymetrics HugoName UniGeneName GeneOntologyID ENSG ENSP KEGGID ApprovedSymbol2 PreviousSymbols NCIName Evidence Chromosome Status Reactome_ID Aliases StringSymbol StringName
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
902 CCNH 902 HGNC:1594 Hs.292524 204093_at
cyclin H Cyclin H GO:0000718 ENSG00000134480 ENSP00000256897 hsa+902 CCNH CCNH EXP 5q13.3-q14 Approved CAK, p34, p37 CCNH cyclin H; Regulates CDK7, the catalytic subunit of the CDK- activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDC2/CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminus domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throug [...]
1022 CDK7 1022 HGNC:1778 Hs.184298 211297_s_at
cyclin-dependent kinase 7 Cyclin-dependent kinase 7 GO:0000718 ENSG00000134058 ENSP00000256443 hsa+1022 CDK7 CDK7 EXP 5q12.1 Approved CAK1, CDKN7, MO15, STK1 CDK7 cyclin-dependent kinase 7; Cyclin-dependent kinases (CDKs) are activated by the binding to a cyclin and mediate the progression through the cell cycle. Each different complex controls a specific transition between two subsequent phases in the cell cycle. CDK7 is the catalytic subunit of the CDK-activating kinase (CAK) complex, a serine-threonine kinase. CAK activates the cyclin-associated kinases CDC2/CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive [...]
1069 CETN2 1069 HGNC:1867 Hs.82794 209194_at
centrin, EF-hand protein, 2 Centrin, EF-hand protein, 2 ENSG00000147400 ENSP00000359300 hsa+1069 CETN2 CALT CETN2 Xq28 Approved CEN2 CETN2 centrin, EF-hand protein, 2; Plays a fundamental role in microtubule-organizing center structure and function. Required for centriole duplication and correct spindle formation. Has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CEP110
8451 CUL4A 8451 HGNC:2554 Hs.339735 201423_s_at
201424_s_at
227757_at
232466_at
242194_at
cullin 4A Cullin 4A ENSG00000139842 ENSP00000364589 hsa+8451 CUL4A CUL4A 13q34 Approved CUL4A cullin 4A; Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the E3 ubiquitin-protein ligase complex depends on [...]
8450 CUL4B 8450 HGNC:2555 Hs.102914 202213_s_at
202214_s_at
210257_x_at
215997_s_at
cullin 4B Cullin 4B ENSG00000158290 ENSP00000384109 hsa+8450 CUL4B CUL4B Xq23 Approved CUL4B cullin 4B; Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition subunit. DC4BX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 in response to radiation-induced DNA damage and during DNA replication. Required for hi [...]
1642 DDB1 1642 HGNC:2717 Hs.290758 208619_at
damage-specific DNA binding protein 1, 127kDa Damage-specific DNA binding protein 1, 127kDa GO:0000718 ENSG00000167986 ENSP00000301764 hsa+1642 DDB1 DDB1 EXP 11q12-q13 Approved XPE DDB1 damage-specific DNA binding protein 1, 127kDa; Required for DNA repair. Binds to DDB2 to form the UV- damaged DNA-binding protein complex (the UV-DDB complex). The UV- DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which [...]
1643 DDB2 1643 HGNC:2718 Hs.708067 203409_at
damage-specific DNA binding protein 2, 48kDa Damage-specific DNA binding protein 2, 48kDa GO:0000718 ENSG00000134574 ENSP00000256996 hsa+1643 DDB2 DDB2 EXP 11p12-p11 Approved DDBB, UV-DDB2, FLJ34321 DDB2 damage-specific DNA binding protein 2, 48kDa; Required for DNA repair. Binds to DDB1 to form the UV- damaged DNA-binding protein complex (the UV-DDB complex). The UV- DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as the substrate recognition module for the DCX (DDB1- CUL4-X-box) E3 ubiquitin-protein ligase complex [...]
2067 ERCC1 2067 HGNC:3433 Hs.435981 203719_at
203720_s_at
228131_at
excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) GO:0000718 GO:0006295 GO:0006296 ENSG00000012061 ENSP00000013807 hsa+2067 ERCC1 ERCC1 EXP IMP 19q13.32 Approved ERCC1 excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence); Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair
2068 ERCC2 2068 HGNC:3434 Hs.487294 213468_at
excision repair cross-complementing rodent repair deficiency, complementation group 2 Excision repair cross-complementing rodent repair deficiency, complementation group 2 GO:0000717 GO:0000718 GO:0006283 GO:0006917 GO:0033683 ENSG00000104884 ENSP00000375809 hsa+2068 ERCC2 XPD ERCC2 EXP IDA IMP 19q13.3 Approved REACT_1675 REACT_1788 REACT_216 REACT_6185 REACT_71 MAG, EM9, MGC102762, MGC126218, MGC126219 XPD excision repair cross-complementing rodent repair deficiency, complementation group 2; ATP-dependent 5'-3' DNA helicase, component of the core- TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. Might also have a role in aging process and could play a causative role in the generation of skin cancers
2071 ERCC3 2071 HGNC:3435 Hs.469872 202176_at
excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) Excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) GO:0000718 GO:0006283 GO:0006917 GO:0033683 ENSG00000163161 ENSP00000285398 hsa+2071 ERCC3 ERCC3 EXP IDA IDA, IMP IMP 2q21 Approved REACT_1675 REACT_1788 REACT_216 REACT_6185 REACT_71 XPB, BTF2, RAD25, TFIIH, GTF2H XPB excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing); ATP-dependent 3'-5' DNA helicase, component of the core- TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage
2072 ERCC4 2072 HGNC:3436 Hs.660606 210158_at
235215_at
excision repair cross-complementing rodent repair deficiency, complementation group 4 Excision repair cross-complementing rodent repair deficiency, complementation group 4 GO:0000718 GO:0000724 GO:0006295 GO:0006296 ENSG00000175595 ENSP00000310520 hsa+2072 ERCC4 XPF ERCC4 EXP IMP 16p13.3 Approved RAD1 XPF excision repair cross-complementing rodent repair deficiency, complementation group 4; Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link
2073 ERCC5 2073 HGNC:3437 Hs.258429 202414_at
excision repair cross-complementing rodent repair deficiency, complementation group 5 Excision repair cross-complementing rodent repair deficiency, complementation group 5 GO:0000718 GO:0006283 GO:0006295 GO:0043066 ENSG00000134899 ENSP00000347978 hsa+2073 ERCC5 ERCM2, XPGC ERCC5 EXP IDA IMP 13q22-q34 Approved REACT_216 ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5; Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too
2074 ERCC6 2074 HGNC:3438 207347_at
230108_at
excision repair cross-complementing rodent repair deficiency, complementation group 6 GO:0006283 GO:0006284 ENSG00000032514 ENSP00000348089 hsa+2074 ERCC6 CKN2 ERCC6 IMP 10q11 Approved CSB, RAD26 PGBD3 excision repair cross-complementing rodent repair deficiency, complementation group 6; Is involved in the preferential repair of active genes. Presumed DNA or RNA unwinding function. Corrects the UV survival and RNA synthesis after UV exposure of Cockayne syndrome complementation group B
1161 ERCC8 1161 HGNC:3439 Hs.435237 1554882_at
1554883_a_at
205162_at
excision repair cross-complementing rodent repair deficiency, complementation group 8 Excision repair cross-complementing rodent repair deficiency, complementation group 8 GO:0006283 ENSG00000049167 ENSP00000265038 hsa+1161 ERCC8 CKN1 ERCC8 IMP 5q12.1 Approved CSA ERCC8 excision repair cross-complementing rodent repair deficiency, complementation group 8; Involved in transcription
2965 GTF2H1 2965 HGNC:4655 Hs.577202 202451_at
202453_s_at
242656_at
general transcription factor IIH, polypeptide 1, 62kDa General transcription factor IIH, polypeptide 1, 62kDa GO:0000718 ENSG00000110768 ENSP00000265963 hsa+2965 GTF2H1 GTF2H1 EXP 11p15.1-p14 Approved BTF2 GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II
2966 GTF2H2 2966 HGNC:4656 Hs.655216 221540_x_at
223758_s_at
general transcription factor IIH, polypeptide 2, 44kDa General transcription factor IIH, polypeptide 2, 44kDa GO:0000718 ENSG00000145736 ENSP00000274400 hsa+2966 GTF2H2 GTF2H2 EXP 5q13.2 Approved BTF2, TFIIH, BTF2P44, T-BTF2P44 GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. The N-terminus interacts with and regulates XPD whereas an intact C- terminus is required for a successful escape of RNAP II form the promoter
2967 GTF2H3 2967 HGNC:4657 Hs.355348 222104_x_at
general transcription factor IIH, polypeptide 3, 34kDa General transcription factor IIH, polypeptide 3, 34kDa GO:0000718 ENSG00000111358 ENSP00000228955 hsa+2967 GTF2H3 GTF2H3 EXP 12q24.31 Approved BTF2, TFIIH GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Anchors XPB
2968 GTF2H4 2968 HGNC:4658 Hs.485070 203577_at
general transcription factor IIH, polypeptide 4, 52kDa General transcription factor IIH, polypeptide 4, 52kDa GO:0000718 ENSG00000213780 ENSP00000259895 hsa+2968 GTF2H4 GTF2H4 EXP 6p21.3 Approved TFB2 - general transcription factor IIH, polypeptide 4, 52kDa
404672 GTF2H5 404672 HGNC:21157 Hs.356224 1558934_a_at
213357_at
232905_at
244294_at
general transcription factor IIH, polypeptide 5 General transcription factor IIH, polypeptide 5 ENSG00000185068 ENSP00000356067 hsa+404672 GTF2H5 C6orf175, TTD GTF2H5 6q25.3 Approved FLJ30544, bA120J8.2, TTD-A, TFB5 GTF2H5 general transcription factor IIH, polypeptide 5; Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell
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
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
64210 MMS19 64210 HGNC:13824 Hs.500721 202167_s_at
MMS19 nucleotide excision repair homolog (S. cerevisiae) MMS19 nucleotide excision repair homolog (S. cerevisiae) ENSG00000155229 ENSP00000359818 MMS19 MMS19L MMS19 10q24-q25 Approved MET18, hMMS19 MMS19L MMS19 nucleotide excision repair homolog (S. cerevisiae); May play a role in nucleotide excision repair (NER) and RNA polymerase II (POL II) transcription by interacting with ERCC2/XPD and ERCC3/XPB helicases, both subunits of NER- transcription factor TFIIH. May also function as a transcriptional coactivator of estrogen receptor (ER). May be involved in regulation of ER activity by bridging TFIIH with ER or may facilitate TFIIH-mediated phosphorylation of ER in specific promoters and cell types
4331 MNAT1 4331 HGNC:7181 Hs.509523 203565_s_at
menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis) Menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis) GO:0000718 ENSG00000020426 ENSP00000261245 hsa+4331 MNAT1 MNAT1 EXP 14q23 Approved MAT1, RNF66 MNAT1 menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis); Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDC2/CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminus domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcriptio [...]
4913 NTHL1 4913 HGNC:8028 Hs.66196 209731_at
nth endonuclease III-like 1 (E. coli) Nth endonuclease III-like 1 (E. coli) GO:0006296 GO:0045008 ENSG00000065057 ENSP00000219066 hsa+4913 NTHL1 NTHL1 EXP IDA 16p13.3 Approved NTH1, OCTS3 NTHL1 nth endonuclease III-like 1 (E. coli); Has both an apurinic and/or apyrimidinic endonuclease activity and a DNA N-glycosylase activity. Incises damaged DNA at cytosines, thymines and guanines. Acts on a damaged strand, 5' from the damaged site. Required for the repair of both oxidative DNA damage and spontaneous mutagenic lesions
5111 PCNA 5111 HGNC:8729 Hs.147433 201202_at
proliferating cell nuclear antigen Proliferating cell nuclear antigen GO:0006297 ENSG00000132646 ENSP00000368438 hsa+5111 PCNA PCNA EXP 20pter-p12 Approved PCNA proliferating cell nuclear antigen; This protein is an auxiliary protein of DNA polymerase delta and is involved in the control of eukaryotic DNA replication by increasing the polymerase's processibility during elongation of the leading strand (By similarity)
5424 POLD1 5424 HGNC:9175 Hs.279413 203422_at
polymerase (DNA directed), delta 1, catalytic subunit 125kDa Polymerase (DNA directed), delta 1, catalytic subunit 125kDa GO:0006297 ENSG00000062822 ENSP00000262266 hsa+5424 POLD1 POLD POLD1 EXP 19q13.3 Approved CDC2 POLD polymerase (DNA directed), delta 1, catalytic subunit 125kDa; Possesses two enzymatic activities: DNA synthesis (polymerase) and an exonucleolytic activity that degrades single stranded DNA in the 3'- to 5'-direction. Required with its accessory proteins (proliferating cell nuclear antigen (PCNA) and replication factor C (RFC) or activator 1) for leading strand synthesis. Also involved in completing Okazaki fragments initiated by the DNA polymerase alpha/primase complex
5425 POLD2 5425 HGNC:9176 Hs.306791 201115_at
polymerase (DNA directed), delta 2, regulatory subunit 50kDa Polymerase (DNA directed), delta 2, regulatory subunit 50kDa GO:0006297 ENSG00000106628 ENSP00000379148 hsa+5425 POLD2 POLD2 EXP 7 Approved POLD2 polymerase (DNA directed), delta 2, regulatory subunit 50kDa; The function of the small subunit is not yet clear
10714 POLD3 10714 HGNC:20932 Hs.82502 212836_at
239816_at
polymerase (DNA-directed), delta 3, accessory subunit Polymerase (DNA-directed), delta 3, accessory subunit GO:0006297 ENSG00000077514 ENSP00000263681 hsa+10714 POLD3 POLD3 EXP 11q14 Approved P66, KIAA0039, P68 POLD3 polymerase (DNA-directed), delta 3, accessory subunit; Required for optimal DNA polymerase delta activity
57804 POLD4 57804 HGNC:14106 Hs.523829 202996_at
polymerase (DNA-directed), delta 4 Polymerase (DNA-directed), delta 4 GO:0006297 ENSG00000175482 ENSP00000311368 hsa+57804 POLD4 POLD4 EXP 11q13 Approved p12, POLDS POLD4 polymerase (DNA-directed), delta 4; Required for optimal DNA polymerase delta activity. May contribute to PCNA-dependent activity of DNA polymerase delta
5426 POLE 5426 HGNC:9177 Hs.524871 Hs.657680 216026_s_at
polymerase (DNA directed), epsilon Polymerase (DNA directed), epsilon GO:0006297 ENSG00000177084 ENSP00000322570 hsa+5426 POLE POLE EXP 12q24.3 Approved POLE1 POLE polymerase (DNA directed), epsilon; Participates in DNA repair and in chromosomal DNA replication
5427 POLE2 5427 HGNC:9178 Hs.162777 205909_at
polymerase (DNA directed), epsilon 2 (p59 subunit) Polymerase (DNA directed), epsilon 2 (p59 subunit) GO:0006297 ENSG00000100479 ENSP00000216367 hsa+5427 POLE2 POLE2 EXP 14q21-q22 Approved DPE2 DPE2 polymerase (DNA directed), epsilon 2 (p59 subunit); Participates in DNA repair and in chromosomal DNA replication
54107 POLE3 54107 HGNC:13546 Hs.108112 208828_at
polymerase (DNA directed), epsilon 3 (p17 subunit) Polymerase (DNA directed), epsilon 3 (p17 subunit) ENSG00000148229 ENSP00000363284 hsa+54107 POLE3 POLE3 9q33 Approved CHRAC17, Ybl1, p17, CHARAC17 POLE3 polymerase (DNA directed), epsilon 3 (p17 subunit); Forms a complex with DNA polymerase epsilon subunit CHRAC1 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome-remodeling activity of ISWI/SNF2H and ACF1
56655 POLE4 56655 HGNC:18755 Hs.469060 1553587_a_at
1565329_at
225844_at
polymerase (DNA-directed), epsilon 4 (p12 subunit) Polymerase (DNA-directed), epsilon 4 (p12 subunit) ENSG00000115350 ENSP00000420176 hsa+56655 POLE4 POLE4 2p12 Approved p12 POLE4 polymerase (DNA-directed), epsilon 4 (p12 subunit); May play a role in allowing polymerase epsilon to carry out its replication and/or repair function
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
5886 RAD23A 5886 HGNC:9812 Hs.643267 201039_s_at
201046_s_at
RAD23 homolog A (S. cerevisiae) RAD23 homolog A (S. cerevisiae) ENSG00000179262 ENSP00000321365 RAD23A RAD23A 19p13.2 Approved HHR23A, MGC111083 RAD23A RAD23 homolog A (S. cerevisiae); Involved in postreplication repair of UV-damaged DNA. Postreplication repair functions in gap-filling of a daughter strand on replication of damaged DNA (Potential)
5887 RAD23B 5887 HGNC:9813 Hs.521640 201222_s_at
201223_s_at
214422_at
223598_at
RAD23 homolog B (S. cerevisiae) RAD23 homolog B (S. cerevisiae) GO:0000718 ENSG00000119318 ENSP00000350708 hsa+5887 RAD23B RAD23B EXP 9q31.2 Approved HHR23B, P58, HR23B RAD23B RAD23 homolog B (S. cerevisiae); Plays a central role both in proteosomal degradation of misfolded proteins and DNA repair. Central component of a complex required to couple deglycosylation and proteasome-mediated degradation of misfolded proteins in the endoplasmic reticulun that are retrotranslocated in the cytosol. Involved in DNA excision repair by stabilizing XPC protein. May play a part in DNA damage recognition and/or in altering chromatin structure to allow access by damage-processing enzymes
9978 RBX1 9978 HGNC:9928 Hs.474949 218117_at
ring-box 1 Ring-box 1 ENSG00000100387 ENSP00000216225 hsa+9978 RBX1 RBX1 22q13.2 Approved ROC1, RNF75, BA554C12.1 RBX1 ring-box 1; Component of the SCF (SKP1-CUL1-F-box protein) and the CBC(VHL) (CUL2-elonging BC-VHL) E3 ubiquitin ligase complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins involved in cell cycle progression, signal transduction and transcription. Through the RING-type zinc finger, seems to recruit the E2 ubiquitination enzyme, like CDC34, to the complex and brings it into close proximity to the substrate. Probably also stimulates CDC34 autoubiquitination. May be required for histone H3 and histone H4 ubiquitination in response to ultravi [...]
5981 RFC1 5981 HGNC:9969 Hs.507475 208021_s_at
208133_at
209085_x_at
replication factor C (activator 1) 1, 145kDa Replication factor C (activator 1) 1, 145kDa GO:0006297 ENSG00000035928 ENSP00000261424 hsa+5981 RFC1 RFC1 EXP 4p14-p13 Approved REACT_152 REACT_216 REACT_383 REACT_7970 A1, PO-GA, RFC140, MHCBFB RFC1 replication factor C (activator 1) 1, 145kDa; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation as well as DNA replication and/or repair. Can bind single- or double-stranded DNA
5982 RFC2 5982 HGNC:9970 Hs.647062 1053_at
203696_s_at
replication factor C (activator 1) 2, 40kDa Replication factor C (activator 1) 2, 40kDa GO:0006297 ENSG00000049541 ENSP00000055077 hsa+5982 RFC2 RFC2 EXP 7q11.23 Approved A1, RFC40 RFC2 replication factor C (activator 1) 2, 40kDa; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit binds ATP (By similarity)
5983 RFC3 5983 HGNC:9971 Hs.115474 204127_at
204128_s_at
231119_at
replication factor C (activator 1) 3, 38kDa Replication factor C (activator 1) 3, 38kDa GO:0006297 ENSG00000133119 ENSP00000369411 hsa+5983 RFC3 RFC3 EXP 13q13.2 Approved RFC38, MGC5276 RFC3 replication factor C (activator 1) 3, 38kDa; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1
5984 RFC4 5984 HGNC:9972 Hs.714318 204023_at
replication factor C (activator 1) 4, 37kDa Replication factor C (activator 1) 4, 37kDa GO:0006297 ENSG00000163918 ENSP00000296273 hsa+5984 RFC4 RFC4 EXP 3q27 Approved A1, RFC37 RFC4 replication factor C (activator 1) 4, 37kDa; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit may be involved in the elongation of the multiprimed DNA template
5985 RFC5 5985 HGNC:9973 Hs.506989 203209_at
203210_s_at
replication factor C (activator 1) 5, 36.5kDa Replication factor C (activator 1) 5, 36.5kDa GO:0006297 ENSG00000111445 ENSP00000408295 hsa+5985 RFC5 RFC5 EXP 12q24.3 Approved RFC36 RFC5 replication factor C (activator 1) 5, 36.5kDa; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1
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
29935 RPA4 29935 HGNC:30305 Hs.659349 221143_at
replication protein A4, 34kDa Replication protein A4, 34kDa ENSG00000204086 ENSP00000362131 hsa+29935 RPA4 RPA4 Xq21 Approved HSU24186 RPA4 replication protein A4, 34kDa; Absolutely required for simian virus 40 DNA replication in vitro. It participates in a very early step in initiation. RP-A is a single-stranded DNA-binding protein (By similarity)
7157 TP53 7157 HGNC:11998 Hs.654481 201746_at
211300_s_at
tumor protein p53 Tumor protein p53 GO:0006289 GO:0008635 GO:0042771 ENSG00000141510 ENSP00000269305 hsa+7157 TP53 TP53 IDA IMP 17p13.1 Approved REACT_1538 p53, LFS1 P53 tumor protein p53; Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. Implicated in Notch signaling cross-over
56949 XAB2 56949 HGNC:14089 Hs.9822 218110_at
XPA binding protein 2 XPA binding protein 2 GO:0006283 ENSG00000076924 ENSP00000351137 XAB2 XAB2 IDA 19p13.3 Approved HCNP, HCRN, SYF1, NTC90 XAB2 XPA binding protein 2; Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing
7507 XPA 7507 HGNC:12814 Hs.654364 205672_at
232967_at
xeroderma pigmentosum, complementation group A Xeroderma pigmentosum, complementation group A GO:0000718 ENSG00000136936 ENSP00000364270 hsa+7507 XPA XPA EXP 9q22.3 Approved XPAC, XP1 XPA xeroderma pigmentosum, complementation group A; Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation
7508 XPC 7508 HGNC:12816 Hs.475538 209375_at
xeroderma pigmentosum, complementation group C Xeroderma pigmentosum, complementation group C GO:0000718 ENSG00000154767 ENSP00000285021 hsa+7508 XPC XPC EXP 3p25 Approved XPCC XPC xeroderma pigmentosum, complementation group C; Involved in DNA excision repair. May play a part in DNA damage recognition and/or in altering chromatin structure to allow access by damage-processing enzymes
51 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
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