NAME: Homologous Recombination

ID ApprovedSymbol EntrezGene HGNC UniGeneID Affymetrics HugoName UniGeneName GeneOntologyID ENSG ENSP KEGGID ApprovedSymbol2 PreviousSymbols NCIName Evidence Chromosome Status Reactome_ID Aliases StringSymbol StringName
9156 EXO1 9156 HGNC:3511 Hs.498248 204603_at
exonuclease 1 Exonuclease 1 GO:0006298 ENSG00000174371 ENSP00000311873 hsa+9156 EXO1 EXO1 IDA IMP IPI 1q42-q43 Approved HEX1, hExoI EXO1 exonuclease 1; 5'->3' double-stranded DNA exonuclease which may also possess a cryptic 3'->5' double-stranded DNA exonuclease activity. Functions in DNA mismatch repair (MMR) to excise mismatch- containing DNA tracts directed by strand breaks located either 5' or 3' to the mismatch. Also exhibits endonuclease activity against 5'-overhanging flap structures similar to those generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. Required for somatic hypermutation (SHM) and class switch recombination (CSR) of immunoglobulin genes. E [...]
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
4292 MLH1 4292 HGNC:7127 Hs.195364 202520_s_at
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) ENSG00000076242 ENSP00000231790 hsa+4292 MLH1 COCA2 MLH1 3p22.3 Approved HNPCC, FCC2, HNPCC2 MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli); Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS- heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to deg [...]
27030 MLH3 27030 HGNC:7128 Hs.436650 204838_s_at
214525_x_at
217216_x_at
mutL homolog 3 (E. coli) MutL homolog 3 (E. coli) ENSG00000119684 ENSP00000348020 MLH3 MLH3 14q24.3 Approved MLH3 mutL homolog 3 (E. coli); Probably involved in the repair of mismatches in DNA
4436 MSH2 4436 HGNC:7325 Hs.597656 209421_at
mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) GO:0006284 GO:0006298 ENSG00000095002 ENSP00000233146 hsa+4436 MSH2 COCA1 MSH2 IDA 2p21 Approved HNPCC, HNPCC1 MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli); Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2- MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, [...]
4437 MSH3 4437 HGNC:7326 Hs.280987 205887_x_at
210947_s_at
229662_at
mutS homolog 3 (E. coli) MutS homolog 3 (E. coli) GO:0006284 GO:0006298 ENSG00000113318 ENSP00000265081 hsa+4437 MSH3 MSH3 IDA IMP 5q11-q12 Approved DUP, MRP1 MSH3 mutS homolog 3 (E. coli); Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion- deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resy [...]
4438 MSH4 4438 HGNC:7327 Hs.216639 210533_at
mutS homolog 4 (E. coli) MutS homolog 4 (E. coli) ENSG00000057468 ENSP00000263187 MSH4 MSH4 1p31 Approved MSH4 mutS homolog 4 (E. coli); Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis
4439 MSH5 4439 HGNC:7328 Hs.647011 210410_s_at
212913_at
mutS homolog 5 (E. coli) MutS homolog 5 (E. coli) ENSG00000096474 ENSP00000364894 MSH5 MSH5 6p21.3 Approved NG23 mutS homolog 5 (E. coli); Involved in meiotic recombination. Facilitate crossovers between homologs during meiosis (By similarity)
2956 MSH6 2956 HGNC:7329 Hs.445052 202911_at
211449_at
211450_s_at
240148_at
mutS homolog 6 (E. coli) MutS homolog 6 (E. coli) GO:0006284 GO:0006298 ENSG00000116062 ENSP00000234420 hsa+2956 MSH6 GTBP MSH6 IDA IMP 2p16 Approved MSH6 mutS homolog 6 (E. coli); Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resyn [...]
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)
5378 PMS1 5378 HGNC:9121 Hs.111749 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) PMS1 postmeiotic segregation increased 1 (S. cerevisiae) ENSG00000064933 ENSP00000406490 PMS1 PMSL1 PMS1 2q31-q33 Approved PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae); Probably involved in the repair of mismatches in DNA
5395 PMS2 5395 HGNC:9122 Hs.632637 209805_at
221206_at
PMS2 postmeiotic segregation increased 2 (S. cerevisiae) PMS2 postmeiotic segregation increased 2 (S. cerevisiae) GO:0006298 ENSG00000122512 ENSP00000265849 hsa+5395 PMS2 PMSL2 PMS2 IDA 7p22.1 Approved H_DJ0042M02.9, HNPCC4 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae); Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2- MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade [...]
5387 PMS2L3 5387 HGNC:9128 Hs.659871 214473_x_at
216111_x_at
216525_x_at
217488_x_at
postmeiotic segregation increased 2-like 3 Postmeiotic segregation increased 2-like 3 ENSG00000127957 ENSP00000302965 PMS2L3 PMS2L9 PMS2L3 7q11.23 Approved PMS5, PMSR3 PMS5 postmeiotic segregation increased 2-like 3
5382 PMS2L4 5382 HGNC:9129 Hs.712714 215192_at
postmeiotic segregation increased 2-like 4 pseudogene Postmeiotic segregation increased 2-like 4 pseudogene ENSP00000413759 PMS2L4 PMS2L4 7q11.22 Approved PMS6 - postmeiotic segregation increased 2-like 11 pseudogene; Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhibiting the transcriptional activation mediated by MATCH1. Functions as an ubiquitin ligase protein in vitro, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity
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
5582 PRKCG 5582 HGNC:9402 Hs.631564 206270_at
236195_x_at
protein kinase C, gamma Protein kinase C, gamma GO:0032425 ENSG00000126583 ENSP00000263431 PRKCG PKCG, SCA14 PRKCG IDA 19q13.4 Approved PKCC, MGC57564 PRKCG protein kinase C, gamma; This is a calcium-activated, phospholipid-dependent, serine- and threonine-specific enzyme
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)
28 genes found.

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ID ApprovedSymbol EntrezGene HGNC
UniGeneID HugoName UniGeneName GeneOntologyID
ENSG ENSP KEGGID ApprovedSymbol2
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