Gene: ERCC6 - Homo sapiens
Last modified: Dec 09, 2014. Release 1 • Page created: May 19, 2024
Summary
Gene Symbol | : | ERCC6 | ||||||||||||||||
NCBI Gene ID | : | 2074 | ||||||||||||||||
Species | : | Homo sapiens | ||||||||||||||||
Gene Synonyms | : | ARMD5 | ATP-dependent helicase ERCC6 | CKN2 | Cockayne syndrome B protein | Cockayne syndrome group B protein | cockayne syndrome protein CSB | COFS | COFS1 | CSB | CSB GENE | DNA excision repair protein ERCC-6 | ERCC6 | excision repair cross-complementing rodent repair deficiency, complementation group 6 | EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6 | RAD26 | Rad26 homolog | RAD26, S. CEREVISIAE, HOMOLOG OF | UVSS1 Source: GPSDB |
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Gene Homologs | : | AGOS_AEL065C (Eremothecium gossypii) | AT2G18760.1 (Arabidopsis thaliana) | ERCC6 (Bos taurus) | ERCC6 (Canis lupus familiaris) | ercc6 (Danio rerio) | ERCC6 (Gallus gallus) | ERCC6 (Homo sapiens) | ERCC6 (Macaca mulatta) | Ercc6 (Mus musculus) | Ercc6 (Rattus norvegicus) | KLLA0E22617g (Kluyveromyces lactis) | MGG_05239 (Magnaporthe oryzae) | NCU07837 (Neurospora crassa) | Os01g0102800 (Oryza sativa) | RAD26 (Saccharomyces cerevisiae) | rhp26 (Schizosaccharomyces pombe) | ||||||||||||||||
Ageing Relevance Analysis | : |
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Ageing Factor Stable ID | : | AF_003260 | ||||||||||||||||
Download | : | XML |
Protein Information
Protein Name | Species | UniProt Accession Number | UniProt Entry Name | Protein Function | Sequence |
---|---|---|---|---|---|
DNA excision repair protein ERCC-6 | Homo sapiens | Q03468 (UniProtKB/Swiss-Prot) | ERCC6_HUMAN (UniProtKB/Swiss-Prot) | Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II-blocking lesions. | View |
Observations
Ageing Phenotype
Data Type 1
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
# | Observation Stable ID | Species | Gene | Other Ageing Factor | Description | PubMed | Source | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
1 | OB_009874 | Homo sapiens |
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Also known as CSB, ERCC6 is involved in DNA repair and perhaps DNA unwinding [0506]. ERCC6-null mice show skin cancer predisposition, reduced growth, and neurologic dysfunction [1768]. Mice mutant for ERCC6 and XPA die before weaning and display some signs of premature ageing included stunted growth, neurological dysfunction, retinal degeneration, cachexia, and kyphosis [1934]. Mutations in the human ERCC6 gene cause Cockayne syndrome type B, which can be considered a segmental progeroid syndrome even though it is more severe than the Cockayne syndrome type A caused by mutations in ERCC8. If indeed Cockayne syndrome is premature ageing, it is likely ERCC6 plays a role in human ageing [0238]. | GenAge |
Data Type 2
no ageing phenotype observation—data type 2 available
Homology Analysis
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
Legend:
- #EGHG:
- Number of Experimentally Confirmed Ageing-related Genes In Homology Group
# | Observation Stable ID | Homology Group Genes | #EGHG | Description | Source | Homology Source |
---|---|---|---|---|---|---|
1 | OB_009096 | 1 | The HomoloGene homology group 6279 contains 1 gene with experimental evidence for ageing relevance (ERCC6 - Homo sapiens) and 15 other genes. | AgeFactDB Homology Analysis | HomoloGene homology group 6279 |
Sequences
ERCC6_HUMAN | Q03468 | DNA excision repair protein ERCC-6 (Homo sapiens) from UniProtKB/Swiss-Prot Length: 1493 10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 260 270 280 290 300 310 320 330 340 350 360 370 380 390 400 410 420 430 440 450 460 470 480 490 500 510 520 530 540 550 560 570 580 590 600 610 620 630 640 650 660 670 680 690 700 710 720 730 740 750 760 770 780 790 800 810 820 830 840 850 860 870 880 890 900 910 920 930 940 950 960 970 980 990 1000 1010 1020 1030 1040 1050 1060 1070 1080 1090 1100 1110 1120 1130 1140 1150 1160 1170 1180 1190 1200 1210 1220 1230 1240 1250 1260 1270 1280 1290 1300 1310 1320 1330 1340 1350 1360 1370 1380 1390 1400 1410 1420 1430 1440 1450 1460 1470 1480 1490 ERCC6_HUMAN 1 MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYLSFRSVGDGLSTSAVGCASAAPRRGPALLHIDRHQIQAVEPSAQALELQGLGVDVYDQDVLEQGVLQQVDNAIHEASRASQLVDVEKEYRSVLDDLTSCTTSLRQINKIIEQLSPQAATSRDINRKLDSVKRQKYNKEQQLKKITAKQKHLQAILGGAEVKIELDHASLEEDAEPGPSSLGSMLMPVQETAWEELIRTGQMTPFGTQIPQKQEKKPRKIMLNEASGFEKYLADQAKLSFERKKQGCNKRAARKAPAPVTPPAPVQNKNKPNKKARVLSKKEERLKKHIKKLQKRALQFQGKVGLPKARRPWESDMRPEAEGDSEGEESEYFPTEEEEEEEDDEVEGAEADLSGDGTDYELKPLPKGGKRQKKVPVQEIDDDFFPSSGEEAEAASVGEGGGGGRKVGRYRDDGDEDYYKQRLRRWNKLRLQDKEKRLKLEDDSEESDAEFDEGFKVPGFLFKKLFKYQQTGVRWLWELHCQQAGGILGDEMGLGKTIQIIAFLAGLSYSKIRTRGSNYRFEGLGPTVIVCPTTVMHQWVKEFHTWWPPFRVAILHETGSYTHKKEKLIRDVAHCHGILITSYSYIRLMQDDISRYDWHYVILDEGHKIRNPNAAVTLACKQFRTPHRIILSGSPMQNNLRELWSLFDFIFPGKLGTLPVFMEQFSVPITMGGYSNASPVQVKTAYKCACVLRDTINPYLLRRMKSDVKMSLSLPDKNEQVLFCRLTDEQHKVYQNFVDSKEVYRILNGEMQIFSGLIALRKICNHPDLFSGGPKNLKGLPDDELEEDQFGYWKRSGKMIVVESLLKIWHKQGQRVLLFSQSRQMLDILEVFLRAQKYTYLKMDGTTTIASRQPLITRYNEDTSIFVFLLTTRVGGLGVNLTGANRVVIYDPDWNPSTDTQARERAWRIGQKKQVTVYRLLTAGTIEEKIYHRQIFKQFLTNRVLKDPKQRRFFKSNDLYELFTLTSPDASQSTETSAIFAGTGSDVQTPKCHLKRRIQPAFGADHDVPKRKKFPASNISVNDATSSEEKSEAKGAEVNAVTSNRSDPLKDDPHMSSNVTSNDRLGEETNAVSGPEELSVISGNGECSNSSGTGKTSMPSGDESIDEKLGLSYKRERPSQAQTEAFWENKQMENNFYKHKSKTKHHSVAEEETLEKHLRPKQKPKNSKHCRDAKFEGTRIPHLVKKRRYQKQDSENKSEAKEQSNDDYVLEKLFKKSVGVHSVMKHDAIMDGASPDYVLVEAEANRVAQDALKALRLSRQRCLGAVSGVPTWTGHRGISGAPAGKKSRFGKKRNSNFSVQHPSSTSPTEKCQDGIMKKEGKDNVPEHFSGRAEDADSSSGPLASSSLLAKMRARNHLILPERLESESGHLQEASALLPTTEHDDLLVEMRNFIAFQAHTDGQASTREILQEFESKLSASQSCVFRELLRNLCTFHRTSGGEGIWKLKPEYC 1493
References
MeSH Terms: Only a subset of the Medical Subject Headings terms is shown: the Major Topics MeSH terms. They describe one of the main topics discussed in the article denoted by an asterisk on the MeSH term or MeSH/Subheading combination on the PubMed page. MeSH terms that belong to the Ageing MeSH are highlighted in green.
- Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC:
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.
Cell. 1995; 82: 555-64.
PubMed (ID: 7664335)
MeSH Terms: Cockayne Syndrome/genetics; Cockayne Syndrome/metabolism; Proteins/genetics; Proteins/metabolism; RNA Polymerase II/metabolism; Transcription Factors, TFII; Transcription Factors/metabolism - Licht CL, Stevnsner T, Bohr VA:
Cockayne syndrome group B cellular and biochemical functions.
Am J Hum Genet. 2003; 73: 1217-39.
PubMed (ID: 14639525), PubMed Central (ID: PMC1180389), doi:10.1086/380399
MeSH Terms: Cockayne Syndrome/genetics; DNA Helicases/genetics; DNA Repair/genetics; Transcription, Genetic/genetics - Kipling D, Davis T, Ostler EL, Faragher RG:
What can progeroid syndromes tell us about human aging?
Science. 2004; 305: 1426-31.
PubMed (ID: 15353794), doi:10.1126/science.1102587
MeSH Terms: Aging; Werner Syndrome/genetics; Werner Syndrome/pathology; Werner Syndrome/physiopathology - Thorslund T, von Kobbe C, Harrigan JA, Indig FE, Christiansen M, Stevnsner T, Bohr VA:
Cooperation of the Cockayne syndrome group B protein and poly(ADP-ribose) polymerase 1 in the response to oxidative stress.
Mol Cell Biol. 2005; 25: 7625-36.
PubMed (ID: 16107709), PubMed Central (ID: PMC1190307), doi:10.1128/MCB.25.17.7625-7636.2005
MeSH Terms: Cockayne Syndrome; DNA Helicases/metabolism; Oxidative Stress; Poly(ADP-ribose) Polymerases/metabolism - Dollé ME, Busuttil RA, Garcia AM, Wijnhoven S, van Drunen E, Niedernhofer LJ, van der Horst G, Hoeijmakers JH, van Steeg H, Vijg J:
Increased genomic instability is not a prerequisite for shortened lifespan in DNA repair deficient mice.
Mutat Res. 2006; 596: 22-35.
PubMed (ID: 16472827), doi:10.1016/j.mrfmmm.2005.11.008
MeSH Terms: DNA Repair/genetics; Genome; Mutation - Tuo J, Ning B, Bojanowski CM, Lin ZN, Ross RJ, Reed GF, Shen D, Jiao X, Zhou M, Chew EY, Kadlubar FF, Chan CC:
Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition.
Proc Natl Acad Sci USA. 2006; 103: 9256-61.
PubMed (ID: 16754848), PubMed Central (ID: PMC1474016), doi:10.1073/pnas.0603485103
MeSH Terms: 5' Flanking Region; Aging; DNA Helicases/genetics; Macular Degeneration/genetics; Polymorphism, Single Nucleotide - Niedernhofer LJ, Garinis GA, Raams A, Lalai AS, Robinson AR, Appeldoorn E, Odijk H, Oostendorp R, Ahmad A, van Leeuwen W, Theil AF, Vermeulen W, van der Horst GT, Meinecke P, Kleijer WJ, Vijg J, Jaspers NG, Hoeijmakers JH:
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.
Nature. 2006; 444: 1038-43.
PubMed (ID: 17183314), doi:10.1038/nature05456
MeSH Terms: DNA Damage; Progeria/genetics; Progeria/physiopathology; Somatotrophs/metabolism - van der Pluijm I, Garinis GA, Brandt RM, Gorgels TG, Wijnhoven SW, Diderich KE, de Wit J, Mitchell JR, van Oostrom C, Beems R, Niedernhofer LJ, Velasco S, Friedberg EC, Tanaka K, van Steeg H, Hoeijmakers JH, van der Horst GT:
Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome.
PLoS Biol. 2007; 5: e2.
PubMed (ID: 17326724), PubMed Central (ID: PMC1698505), doi:10.1371/journal.pbio.0050002
MeSH Terms: Cockayne Syndrome/genetics; DNA Repair; Genome/genetics; Growth Hormone/genetics; Insulin-Like Growth Factor I/metabolism - Habraken Y, Sung P, Prakash S, Prakash L:
Transcription factor TFIIH and DNA endonuclease Rad2 constitute yeast nucleotide excision repair factor 3: implications for nucleotide excision repair and Cockayne syndrome.
Proc Natl Acad Sci USA. 1996; 93: 10718-22.
PubMed (ID: 8855246), PubMed Central (ID: PMC38221)
MeSH Terms: Cockayne Syndrome/metabolism; DNA Repair; Endodeoxyribonucleases; Fungal Proteins/metabolism; Saccharomyces cerevisiae Proteins; Saccharomyces cerevisiae/genetics; TATA-Binding Protein Associated Factors; Transcription Factor TFIID; Transcription Factors, TFII; Transcription Factors/metabolism - Pesce K, Rothe MJ:
The premature aging syndromes.
Clin Dermatol. 1996; 14: 161-70.
PubMed (ID: 9117983)
MeSH Terms: Aging/physiology; Skin Aging/physiology - van der Horst GT, van Steeg H, Berg RJ, van Gool AJ, de Wit J, Weeda G, Morreau H, Beems RB, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH:
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.
Cell. 1997; 89: 425-35.
PubMed (ID: 9150142)
MeSH Terms: Cockayne Syndrome/genetics; DNA Repair/physiology; Skin Neoplasms/genetics; Transcription, Genetic/physiology - Brosh RM, Balajee AS, Selzer RR, Sunesen M, Proietti De Santis L, Bohr VA:
The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair.
Mol Biol Cell. 1999; 10: 3583-94.
PubMed (ID: 10564257), PubMed Central (ID: PMC25641)
MeSH Terms: Adenosine Triphosphatases/genetics; DNA Helicases/genetics; DNA Repair/genetics - Murai M, Enokido Y, Inamura N, Yoshino M, Nakatsu Y, van der Horst GT, Hoeijmakers JH, Tanaka K, Hatanaka H:
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes.
Proc Natl Acad Sci USA. 2001; 98: 13379-84.
PubMed (ID: 11687625), PubMed Central (ID: PMC60879), doi:10.1073/pnas.231329598
MeSH Terms: Ataxia/genetics; Cerebellum/growth & development; DNA Helicases/physiology; DNA Repair/genetics; DNA-Binding Proteins/physiology - Tuo J, Jaruga P, Rodriguez H, Dizdaroglu M, Bohr VA:
The cockayne syndrome group B gene product is involved in cellular repair of 8-hydroxyadenine in DNA.
J Biol Chem. 2002; 277: 30832-7.
PubMed (ID: 12060667), doi:10.1074/jbc.M204814200
MeSH Terms: Adenine/analogs & derivatives; Adenine/metabolism; DNA Helicases/physiology; DNA Repair; Guanine/analogs & derivatives - Bradsher J, Auriol J, Proietti de Santis L, Iben S, Vonesch JL, Grummt I, Egly JM:
CSB is a component of RNA pol I transcription.
Mol Cell. 2002; 10: 819-29.
PubMed (ID: 12419226)
MeSH Terms: DNA Helicases/metabolism; RNA Polymerase I/metabolism; Transcription Factors; Transcription, Genetic - Stevnsner T, Nyaga S, de Souza-Pinto NC, van der Horst GT, Gorgels TG, Hogue BA, Thorslund T, Bohr VA:
Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B.
Oncogene. 2002; 21: 8675-82.
PubMed (ID: 12483520), doi:10.1038/sj.onc.1205994
MeSH Terms: Cockayne Syndrome/genetics; DNA Repair; DNA, Mitochondrial/genetics; Guanine/analogs & derivatives; Guanine/metabolism
Sources
Ageing-related Data Sources
- AgeFactDB Homology Analysis
- GenAge
Additional Data Sources
- AgeFactDB Pipeline
- GPSDB
- HomoloGene
- NCBI Taxonomy
- PubMed
- UniProtKB/Swiss-Prot