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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
5
Cytoband
q12.1
Chromosome location (bp)
60866454 - 60945073
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes. Plays a role in DNA single-strand and double-strand breaks (DSSBs) repair; involved in repair of DSSBs by non-homologous end joining (NHEJ) 1....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair, Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
A0A7I2PE23 [Direct mapping] DNA excision repair protein ERCC-8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
C9JNT2 [Direct mapping] DNA excision repair protein ERCC-8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
B3KPW7 [Direct mapping] DNA excision repair protein ERCC-8; cDNA FLJ32369 fis, clone PUAEN1000276, highly similar to DNA excision repair protein ERCC-8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000012[single strand break repair] GO:0000109[nucleotide-excision repair complex] GO:0000209[protein polyubiquitination] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006281[DNA repair] GO:0006283[transcription-coupled nucleotide-excision repair] GO:0006974[cellular response to DNA damage stimulus] GO:0006979[response to oxidative stress] GO:0009411[response to UV] GO:0016363[nuclear matrix] GO:0016567[protein ubiquitination] GO:0031464[Cul4A-RING E3 ubiquitin ligase complex] GO:0032991[protein-containing complex] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0044877[protein-containing complex binding] GO:0051865[protein autoubiquitination] GO:0080008[Cul4-RING E3 ubiquitin ligase complex] GO:0090262[regulation of transcription-coupled nucleotide-excision repair] GO:0097680[double-strand break repair via classical nonhomologous end joining]
Q13216 [Direct mapping] DNA excision repair protein ERCC-8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000012[single strand break repair] GO:0000109[nucleotide-excision repair complex] GO:0000209[protein polyubiquitination] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006281[DNA repair] GO:0006283[transcription-coupled nucleotide-excision repair] GO:0006974[cellular response to DNA damage stimulus] GO:0006979[response to oxidative stress] GO:0009411[response to UV] GO:0010165[response to X-ray] GO:0016363[nuclear matrix] GO:0016567[protein ubiquitination] GO:0031464[Cul4A-RING E3 ubiquitin ligase complex] GO:0032991[protein-containing complex] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0044877[protein-containing complex binding] GO:0045739[positive regulation of DNA repair] GO:0051865[protein autoubiquitination] GO:0080008[Cul4-RING E3 ubiquitin ligase complex] GO:0090262[regulation of transcription-coupled nucleotide-excision repair] GO:0097680[double-strand break repair via classical nonhomologous end joining]
A0A804HJN0 [Direct mapping] DNA excision repair protein ERCC-8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
A0A804HIH7 [Direct mapping] DNA excision repair protein ERCC-8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Neurodegenerative diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
