Entry
Name
Nucleotide excision repair - Homo sapiens (human)
Description
Nucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the NER pathway are linked to at least three diseases: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). The repair of damaged DNA involves at least 30 polypeptides within two different sub-pathways of NER known as transcription-coupled repair (TCR-NER) and global genome repair (GGR-NER). TCR refers to the expedited repair of lesions located in the actively transcribed strand of genes by RNA polymerase II (RNAP II). In GGR-NER the first step of damage recognition involves XPC-hHR23B complex together with XPE complex (in prokaryotes, uvrAB complex). The following steps of GGR-NER and TCR-NER are similar.
Class
Genetic Information Processing; Replication and repair
BRITE hierarchy
Pathway map
Network
Element
N01430 Transcription-coupled NER
Other DBs
Organism
Homo sapiens (human) [GN:
hsa ]
Gene
10714 POLD3; DNA polymerase delta 3, accessory subunit [KO:K03504 ]
1161 ERCC8; ERCC excision repair 8, CSA ubiquitin ligase complex subunit [KO:K10570 ]
1642 DDB1; damage specific DNA binding protein 1 [KO:K10610 ]
1643 DDB2; damage specific DNA binding protein 2 [KO:K10140 ]
2067 ERCC1; ERCC excision repair 1, endonuclease non-catalytic subunit [KO:K10849 ]
2068 ERCC2; ERCC excision repair 2, TFIIH core complex helicase subunit [KO:K10844 ] [EC:5.6.2.3 ]
2071 ERCC3; ERCC excision repair 3, TFIIH core complex helicase subunit [KO:K10843 ] [EC:5.6.2.4 ]
2072 ERCC4; ERCC excision repair 4, endonuclease catalytic subunit [KO:K10848 ] [EC:3.1.-.-]
2073 ERCC5; ERCC excision repair 5, endonuclease [KO:K10846 ]
2074 ERCC6; ERCC excision repair 6, chromatin remodeling factor [KO:K10841 ]
2965 GTF2H1; general transcription factor IIH subunit 1 [KO:K03141 ]
2966 GTF2H2; general transcription factor IIH subunit 2 [KO:K03142 ]
2967 GTF2H3; general transcription factor IIH subunit 3 [KO:K03143 ]
2968 GTF2H4; general transcription factor IIH subunit 4 [KO:K03144 ]
404672 GTF2H5; general transcription factor IIH subunit 5 [KO:K10845 ]
4331 MNAT1; MNAT1 component of CDK activating kinase [KO:K10842 ]
5111 PCNA; proliferating cell nuclear antigen [KO:K04802 ]
5425 POLD2; DNA polymerase delta 2, accessory subunit [KO:K02328 ]
5432 POLR2C; RNA polymerase II subunit C [KO:K03011 ]
5433 POLR2D; RNA polymerase II subunit D [KO:K03012 ]
5434 POLR2E; RNA polymerase II, I and III subunit E [KO:K03013 ]
5435 POLR2F; RNA polymerase II, I and III subunit F [KO:K03014 ]
5436 POLR2G; RNA polymerase II subunit G [KO:K03015 ]
5437 POLR2H; RNA polymerase II, I and III subunit H [KO:K03016 ]
5438 POLR2I; RNA polymerase II subunit I [KO:K03017 ]
5439 POLR2J; RNA polymerase II subunit J [KO:K03008 ]
5440 POLR2K; RNA polymerase II, I and III subunit K [KO:K03009 ]
5441 POLR2L; RNA polymerase II, I and III subunit L [KO:K03007 ]
57654 UVSSA; UV stimulated scaffold protein A [KO:K23720 ]
57804 POLD4; DNA polymerase delta 4, accessory subunit [KO:K03505 ]
5886 RAD23A; RAD23 homolog A, nucleotide excision repair protein [KO:K10839 ]
5887 RAD23B; RAD23 homolog B, nucleotide excision repair protein [KO:K10839 ]
5981 RFC1; replication factor C subunit 1 [KO:K10754 ]
5982 RFC2; replication factor C subunit 2 [KO:K10755 ]
5983 RFC3; replication factor C subunit 3 [KO:K10756 ]
5984 RFC4; replication factor C subunit 4 [KO:K10755 ]
5985 RFC5; replication factor C subunit 5 [KO:K10756 ]
730394 GTF2H2C_2; GTF2H2 family member C, copy 2 [KO:K03142 ]
7507 XPA; XPA, DNA damage recognition and repair factor [KO:K10847 ]
7508 XPC; XPC complex subunit, DNA damage recognition and repair factor [KO:K10838 ]
Reference
Authors
Sugasawa K.
Title
[Molecular mechanism of mammalian nucleotide excision repair]
Journal
Tanpakushitsu Kakusan Koso 46:893-901 (2001)
Reference
Authors
Nakatsu Y.
Title
[Transcription-coupled repair and Cockayne syndrome]
Journal
Tanpakushitsu Kakusan Koso 46:908-15 (2001)
Reference
Authors
Nakagawa N, Masui R, Kuramitsu S.
Title
[Structure and function of DNA repair enzyme UvrB from Thermus thermophilus HB8]
Journal
Tanpakushitsu Kakusan Koso 46:968-75 (2001)
Reference
Authors
Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ.
Title
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
Journal
Reference
Authors
Saldivar JS, Wu X, Follen M, Gershenson D.
Title
Nucleotide excision repair pathway review I: implications in ovarian cancer and platinum sensitivity.
Journal
Reference
Authors
Sugasawa K.
Title
[DNA repair pathways involving Cul4A ubiquitin ligases]
Journal
Tanpakushitsu Kakusan Koso 51:1339-44 (2006)
Reference
Authors
Ito S, Ando D, Tanaka K.
Title
[Cross-talk between DNA repair and transcription: molecular mechanism and disorders]
Journal
Tanpakushitsu Kakusan Koso 52:1823-31 (2007)
Related pathway
KO pathway