ERCC8

Also known as CKN1, CSA, UVSS2, excision repair cross-complementation group 8, ERCC excision repair 8, CSA ubiquitin ligase complex subunit

DNA excision repair protein ERCC-8 is a protein that in humans is encoded by the ERCC8 gene.

In the Vinony graph

Within Vinony's link graph, ERCC8 is referenced by 68 other articles, and connects out to PubMed, human chromosome 5 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 5.

Its subject is documented across 5 Wikipedia language editions.

Gene data

ERCC8

Name: ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Type: protein-coding
Position: 60,866,454–60,945,078 (−)
Aliases: CKN1, CSA, UVSS2
Ensembl: ENSG00000049167
RefSeq RNA: NM_000082.4, NM_001007233.3, NM_001007234.3, NM_001290285.2
RefSeq protein: NP_000073.1, NP_001007234.1, NP_001007235.1, NP_001277214.1

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].

Gene Ontology

Biological process

single strand break repair protein polyubiquitination protein polyubiquitination transcription-coupled nucleotide-excision repair transcription-coupled nucleotide-excision repair transcription-coupled nucleotide-excision repair transcription-coupled nucleotide-excision repair nucleotide-excision repair

Molecular function

protein binding ubiquitin-like ligase-substrate adaptor activity ubiquitin-like ligase-substrate adaptor activity

Cellular component

nucleotide-excision repair complex nucleotide-excision repair complex nucleotide-excision repair complex nucleus nucleus nucleus nucleus nucleoplasm

Pathways

Nucleotide excision repair - Homo sapiens (human)Ubiquitin mediated proteolysis - Homo sapiens (human)Metabolism of proteins Nucleotide Excision Repair Post-translational protein modification Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER)Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER DNA Repair

via MyGene.info

Gene · Ensembl

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Symbol: ERCC8
Biotype: Protein coding
Organism: Homo sapiens
Location: 5:60,866,454-60,945,078
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 7 more facts

HomoloGene ID: 62
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/1161
genomic end: 60240900
genomic start: 60866454
chromosome: human chromosome 5
cytogenetic location: 5q12.1

Sources (4)

via Wikidata · CC0

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Encyclopedic overview

5 sections

Contents

Function
Interactions
References
Further reading
External links

DNA excision repair protein ERCC-8 is a protein that in humans is encoded by the ERCC8 gene.

This gene encodes a WD repeat protein, which interacts with the Cockayne syndrome type B (CSB) and p44 proteins, the latter being a subunit of the RNA polymerase II transcription factor II H. Mutations in this gene have been identified in patients with the hereditary disease Cockayne syndrome (CS). CS is an accelerated aging disorder characterized by photosensitivity, impaired development and multi-system progressive degeneration. The CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Excerpted from Wikipedia’s “ERCC8” article, available under the CC BY-SA 4.0 licence.