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ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit [ Homo sapiens (human) ]

Gene ID: 1161, updated on 10-Oct-2019

Summary

Official Symbol
ERCC8provided by HGNC
Official Full Name
ERCC excision repair 8, CSA ubiquitin ligase complex subunitprovided by HGNC
Primary source
HGNC:HGNC:3439
See related
Ensembl:ENSG00000049167 MIM:609412
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CSA; CKN1; UVSS2
Summary
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
Expression
Ubiquitous expression in testis (RPKM 4.1), thyroid (RPKM 3.2) and 25 other tissues See more
Orthologs

Genomic context

See ERCC8 in Genome Data Viewer
Location:
5q12.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (60873832..60945078, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (60169659..60240905, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene keratin 8 pseudogene 31 Neighboring gene ELOVL fatty acid elongase 7 Neighboring gene G protein nucleolar 3 like pseudogene 1 Neighboring gene ERCC8 antisense RNA 1 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 2 Neighboring gene SMIM15 antisense RNA 1 Neighboring gene small integral membrane protein 15

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Cul4-DDB1-CSA complex, organism-specific biosystem (from KEGG)
    Cul4-DDB1-CSA complex, organism-specific biosystemStructural complex; Genetic information processing; Ubiquitin system
  • Cul4-DDB1-CSA complex, conserved biosystem (from KEGG)
    Cul4-DDB1-CSA complex, conserved biosystemStructural complex; Genetic information processing; Ubiquitin system
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Dual incision in TC-NER, organism-specific biosystem (from REACTOME)
    Dual incision in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), the oligonucleotide that contains the lesion is excised from the open bubbl...
  • Formation of TC-NER Pre-Incision Complex, organism-specific biosystem (from REACTOME)
    Formation of TC-NER Pre-Incision Complex, organism-specific biosystemFormation of TC-NER pre-incision complex is initiated when the RNA polymerase II (RNA Pol II) complex stalls at a DNA damage site. The stalling is caused by misincorporation of a ribonucleotide oppos...
  • Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystem (from REACTOME)
    Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), DNA polymerases delta or epsilon, or the Y family DNA polymerase kappa, fil...
  • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
    Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...
  • Nucleotide excision repair, organism-specific biosystem (from KEGG)
    Nucleotide excision repair, organism-specific biosystemNucleotide 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 ...
  • Nucleotide excision repair, conserved biosystem (from KEGG)
    Nucleotide excision repair, conserved biosystemNucleotide 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 ...
  • Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystem (from REACTOME)
    Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystemDNA damage in transcribed strands of active genes is repaired through a specialized nucleotide excision repair (NER) pathway known as transcription-coupled nucleotide excision repair (TC-NER). TC-NER...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12595

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via classical nonhomologous end joining IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein autoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
response to UV IDA
Inferred from Direct Assay
more info
PubMed 
response to X-ray IEA
Inferred from Electronic Annotation
more info
 
response to auditory stimulus IEA
Inferred from Electronic Annotation
more info
 
response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IDA
Inferred from Direct Assay
more info
PubMed 
response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
single strand break repair IDA
Inferred from Direct Assay
more info
PubMed 
transcription-coupled nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription-coupled nucleotide-excision repair IDA
Inferred from Direct Assay
more info
PubMed 
transcription-coupled nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Cul4-RING E3 ubiquitin ligase complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
Cul4A-RING E3 ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Cul4A-RING E3 ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleotide-excision repair complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleotide-excision repair complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA excision repair protein ERCC-8
Names
Cockayne syndrome WD-repeat protein CSA
cockayne syndrome WD repeat protein CSA
excision repair cross-complementation group 8
excision repair cross-complementing rodent repair deficiency, complementation group 8

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009289.1 RefSeqGene

    Range
    5001..76247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_466

mRNA and Protein(s)

  1. NM_000082.3NP_000073.1  DNA excision repair protein ERCC-8 isoform 1

    See identical proteins and their annotated locations for NP_000073.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC104113, DA169067, U28413
    Consensus CDS
    CCDS3978.1
    UniProtKB/Swiss-Prot
    Q13216
    Related
    ENSP00000265038.5, ENST00000265038.9
    Conserved Domains (2) summary
    sd00039
    Location:4797
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:40361
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_001007233.2NP_001007234.1  DNA excision repair protein ERCC-8 isoform 2

    See identical proteins and their annotated locations for NP_001007234.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' region and uses a downstream AUG start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK056931, DA169067
    UniProtKB/TrEMBL
    B3KPW7
    Conserved Domains (2) summary
    sd00039
    Location:4483
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:1303
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. NM_001007234.3NP_001007235.1  DNA excision repair protein ERCC-8 isoform 3

    See identical proteins and their annotated locations for NP_001007235.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several 3' exons and has an alternate 3' end compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC022445, BC009793, DA169067
    UniProtKB/Swiss-Prot
    Q13216
    UniProtKB/TrEMBL
    A0A0S2Z3L1
    Related
    ENSP00000494466.1, ENST00000647486.1
    Conserved Domains (2) summary
    sd00039
    Location:4796
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:40184
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  4. NM_001290285.1NP_001277214.1  DNA excision repair protein ERCC-8 isoform 4

    See identical proteins and their annotated locations for NP_001277214.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate internal exon and uses a downstream AUG start codon compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK056931, AK294856, DA169067
    UniProtKB/TrEMBL
    B3KPW7, B4DGZ9
    Conserved Domains (2) summary
    sd00039
    Location:3790
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:15208
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    60873832..60945078 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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