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

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; AllianceGenome:HGNC:3439
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: mouse all
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Genomic context

Location:: 5q12.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (60866454..60945070, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (61682823..61761461, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (60162281..60240897, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.
Title: A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.
Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality.
Title: Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality.
Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts.
Title: Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts.
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.
Title: A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.
Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.
Title: Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.
Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.
Title: Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.
Cockayne Syndrome-Associated CSA and CSB Mutations Impair Ribosome Biogenesis, Ribosomal Protein Stability, and Global Protein Folding.
Title: Cockayne Syndrome-Associated CSA and CSB Mutations Impair Ribosome Biogenesis, Ribosomal Protein Stability, and Global Protein Folding.
Cockayne syndrome proteins CSA and CSB maintain mitochondrial homeostasis through NAD(+) signaling.
Title: Cockayne syndrome proteins CSA and CSB maintain mitochondrial homeostasis through NAD(+) signaling.
Clinical and Mutation Spectra of Cockayne Syndrome in India.
Title: Clinical and Mutation Spectra of Cockayne Syndrome in India.
Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome.
Title: Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cockayne syndrome type 1 MedGen: C0751039 OMIM: 216400 GeneReviews: Cockayne Syndrome	Compare labs
UV-sensitive syndrome 2 MedGen: C3553298 OMIM: 614621 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18023 (e-PCR)
- UniSTS:47886

G16887 (e-PCR)
- UniSTS:26397

NoName (e-PCR)
- UniSTS:484387

STS-N49276 (e-PCR)
- UniSTS:26163

RH66055 (e-PCR)
- UniSTS:47453

RH79137 (e-PCR)
- UniSTS:29039

D1S1423 (e-PCR)
- UniSTS:149619

G42997 (e-PCR)
- UniSTS:94867

ERCC8 (e-PCR)
- UniSTS:505749

PMC166200P3 (e-PCR)
- UniSTS:271575

RH92349 (e-PCR)
- UniSTS:84451

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info
contributes_to ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via classical nonhomologous end joining	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription-coupled nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to UV	IDA Inferred from Direct Assay more info	PubMed
involved_in response to X-ray	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in single strand break repair	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription-coupled nucleotide-excision repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within transcription-coupled nucleotide-excision repair	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cul4-RING E3 ubiquitin ligase complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of Cul4A-RING E3 ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul4A-RING E3 ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleotide-excision repair complex	IBA Inferred from Biological aspect of Ancestor more info
part_of nucleotide-excision repair complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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

NG_009289.1 RefSeqGene

Range

5001..76247

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_466

mRNA and Protein(s)

NM_000082.4 → NP_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

B2RB64, Q13216, Q6FHX5, Q96GB9

UniProtKB/TrEMBL

A8K3W1

Related

ENSP00000501614.1, ENST00000676185.1

Conserved Domains (2) summary

sd00039
Location:47 → 97

7WD40; WD40 repeat [structural motif]

cl29593
Location:40 → 361

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 ...
NM_001007233.3 → NP_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)

AC104113, AK056931, DA169067

UniProtKB/TrEMBL

B3KPW7, B4E383

Related

ENSP00000502082.2, ENST00000675042.2

Conserved Domains (2) summary

sd00039
Location:44 → 83

7WD40; WD40 repeat [structural motif]

cl29593
Location:1 → 303

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 ...
NM_001007234.3 → NP_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

Consensus CDS

CCDS93715.1

UniProtKB/TrEMBL

A0A0S2Z3L1, A0A2R8Y5I1

Related

ENSP00000502154.1, ENST00000675229.1

Conserved Domains (2) summary

sd00039
Location:47 → 96

7WD40; WD40 repeat [structural motif]

cl25539
Location:40 → 184

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 ...
NM_001290285.2 → NP_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)

AC104113, AK056931, AK294856, DA169067

UniProtKB/TrEMBL

B4DGZ9

Conserved Domains (2) summary

sd00039
Location:37 → 90

7WD40; WD40 repeat [structural motif]

cl29593
Location:15 → 208

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 ...