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UniProtKB - Q13216 (ERCC8_HUMAN)

Entry version 188 (26 Feb 2020)
Sequence version 1 (01 Nov 1996)
Previous versions | rss
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Protein

DNA excision repair protein ERCC-8

Gene

ERCC8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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) (PubMed:29545921).4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processDNA damage, DNA repair, Ubl conjugation pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-8951664 Neddylation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q13216

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00143

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
DNA excision repair protein ERCC-8
Alternative name(s):
Cockayne syndrome WD repeat protein CSA
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ERCC8
Synonyms:CKN1, CSA
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:3439 ERCC8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609412 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q13216

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cockayne syndrome A (CSA)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063507160A → T in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875222EnsemblClinVar.1
Natural variantiVAR_025380160A → V in CSA. 1 PublicationCorresponds to variant dbSNP:rs121434325EnsemblClinVar.1
Natural variantiVAR_063508194W → C in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875223EnsemblClinVar.1
Natural variantiVAR_063509202L → S in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875224EnsemblClinVar.1
Natural variantiVAR_025381205A → P in CSA. 1 PublicationCorresponds to variant dbSNP:rs121434326EnsemblClinVar.1
Natural variantiVAR_063510266D → G in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875225EnsemblClinVar.1
UV-sensitive syndrome 2 (UVSS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068177361W → C in UVSS2. 1 PublicationCorresponds to variant dbSNP:rs281875221EnsemblClinVar.1

Keywords - Diseasei

Cockayne syndrome, Deafness, Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...DisGeNETi		1161

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ERCC8

MalaCards human disease database

More...MalaCardsi		ERCC8
MIMi216400 phenotype
614621 phenotype

Open Targets

More...OpenTargetsi		ENSG00000049167

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		90321 Cockayne syndrome type 1
90322 Cockayne syndrome type 2
90324 Cockayne syndrome type 3
178338 UV-sensitive syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27853

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q13216 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ERCC8

Domain mapping of disease mutations (DMDM)

More...DMDMi		3121917

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000509701 – 396DNA excision repair protein ERCC-8Add BLAST396

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei390PhosphoserineCombined sources1
Modified residuei391PhosphoserineCombined sources1
Modified residuei392PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q13216

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q13216

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q13216

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q13216

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q13216

PeptideAtlas

More...PeptideAtlasi		Q13216

PRoteomics IDEntifications database

More...PRIDEi		Q13216

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59228 [Q13216-1]
59229 [Q13216-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q13216

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q13216

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000049167 Expressed in kidney and 170 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q13216 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q13216 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA029328

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Part of the CSA complex (DCX(ERCC8) complex), a DCX E3 ubiquitin-protein ligase complex containing ERCC8, RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts with the COP9 signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II.

Interacts with ERCC6 and KIAA1530/UVSSA.

Interacts with a subunit of RNA polymerase II TFIIH.

Interacts directly with DDB1 (PubMed:22118460).

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		107581, 71 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q13216

Database of interacting proteins

More...DIPi		DIP-291N

Protein interaction database and analysis system

More...IntActi		Q13216, 11 interactors

Molecular INTeraction database

More...MINTi		Q13216

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000265038

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q13216 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1396
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q13216

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati33 – 73WD 1Add BLAST41
Repeati88 – 129WD 2Add BLAST42
Repeati133 – 173WD 3Add BLAST41
Repeati177 – 216WD 4Add BLAST40
Repeati235 – 274WD 5Add BLAST40
Repeati281 – 321WD 6Add BLAST41
Repeati325 – 363WD 7Add BLAST39

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4283 Eukaryota
ENOG410Z0MQ LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000009065

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_032951_2_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q13216

KEGG Orthology (KO)

More...KOi		K10570

Identification of Orthologs from Complete Genome Data

More...OMAi		SIYPFDP

Database of Orthologous Groups

More...OrthoDBi		800636at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q13216

TreeFam database of animal gene trees

More...TreeFami		TF101237

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR042238 Rad28/ERCC8/Ckn1/ATCSA-1
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR46202 PTHR46202, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00400 WD40, 4 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00320 GPROTEINBRPT

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00320 WD40, 5 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978 SSF50978, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 5 hits
PS50294 WD_REPEATS_REGION, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13216-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLGFLSARQT GLEDPLRLRR AESTRRVLGL ELNKDRDVER IHGGGINTLD 
        60         70         80         90        100
IEPVEGRYML SGGSDGVIVL YDLENSSRQS YYTCKAVCSI GRDHPDVHRY 
       110        120        130        140        150
SVETVQWYPH DTGMFTSSSF DKTLKVWDTN TLQTADVFNF EETVYSHHMS 
       160        170        180        190        200
PVSTKHCLVA VGTRGPKVQL CDLKSGSCSH ILQGHRQEIL AVSWSPRYDY 
       210        220        230        240        250
ILATASADSR VKLWDVRRAS GCLITLDQHN GKKSQAVESA NTAHNGKVNG 
       260        270        280        290        300
LCFTSDGLHL LTVGTDNRMR LWNSSNGENT LVNYGKVCNN SKKGLKFTVS 
       310        320        330        340        350
CGCSSEFVFV PYGSTIAVYT VYSGEQITML KGHYKTVDCC VFQSNFQELY 
       360        370        380        390 
SGSRDCNILA WVPSLYEPVP DDDETTTKSQ LNPAFEDAWS SSDEEG
Length:396
Mass (Da):44,055
Last modified:November 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iEC962D56226D717B
GO
Isoform 2 (identifier: Q13216-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     185-205: HRQEILAVSWSPRYDYILATA → IFILFQTATTLSKRFNKKKRY
     206-396: Missing.

Show »
Length:205
Mass (Da):23,182
Checksum:i6553CE607A392576
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JNT2C9JNT2_HUMAN
DNA excision repair protein ERCC-8
ERCC8
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5I1A0A2R8Y5I1_HUMAN
DNA excision repair protein ERCC-8
ERCC8
189Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YD24A0A2R8YD24_HUMAN
DNA excision repair protein ERCC-8
ERCC8
159Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YEZ3A0A2R8YEZ3_HUMAN
DNA excision repair protein ERCC-8
ERCC8
137Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3XAG7G3XAG7_HUMAN
DNA excision repair protein ERCC-8
ERCC8 hCG_2003063
57Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053392150S → C. Corresponds to variant dbSNP:rs167037Ensembl.1
Natural variantiVAR_063507160A → T in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875222EnsemblClinVar.1
Natural variantiVAR_025380160A → V in CSA. 1 PublicationCorresponds to variant dbSNP:rs121434325EnsemblClinVar.1
Natural variantiVAR_063508194W → C in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875223EnsemblClinVar.1
Natural variantiVAR_016319200Y → C1 PublicationCorresponds to variant dbSNP:rs4647105Ensembl.1
Natural variantiVAR_063509202L → S in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875224EnsemblClinVar.1
Natural variantiVAR_025381205A → P in CSA. 1 PublicationCorresponds to variant dbSNP:rs121434326EnsemblClinVar.1
Natural variantiVAR_063510266D → G in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875225EnsemblClinVar.1
Natural variantiVAR_068177361W → C in UVSS2. 1 PublicationCorresponds to variant dbSNP:rs281875221EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_013914185 – 205HRQEI…ILATA → IFILFQTATTLSKRFNKKKR Y in isoform 2. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_013915206 – 396Missing in isoform 2. 1 PublicationAdd BLAST191

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U28413 mRNA Translation: AAA82605.1
CR536563 mRNA Translation: CAG38800.1
BT020021 mRNA Translation: AAV38824.1
AY213194 Genomic DNA Translation: AAO21128.1
AK314511 mRNA Translation: BAG37111.1
CH471123 Genomic DNA Translation: EAW55004.1
BC009793 mRNA Translation: AAH09793.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3978.1 [Q13216-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A57090

NCBI Reference Sequences

More...RefSeqi		NP_000073.1, NM_000082.3 [Q13216-1]
NP_001007235.1, NM_001007234.2 [Q13216-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000265038; ENSP00000265038; ENSG00000049167 [Q13216-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1161

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1161

UCSC genome browser

More...UCSCi		uc003jsm.4 human [Q13216-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs
Mendelian genes excision repair cross-complementing rodent repair deficiency, complementation group 8 (ERCC8)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U28413 mRNA Translation: AAA82605.1
CR536563 mRNA Translation: CAG38800.1
BT020021 mRNA Translation: AAV38824.1
AY213194 Genomic DNA Translation: AAO21128.1
AK314511 mRNA Translation: BAG37111.1
CH471123 Genomic DNA Translation: EAW55004.1
BC009793 mRNA Translation: AAH09793.1
CCDSiCCDS3978.1 [Q13216-1]
PIRiA57090
RefSeqiNP_000073.1, NM_000082.3 [Q13216-1]
NP_001007235.1, NM_001007234.2 [Q13216-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4A11X-ray3.31B1-396[»]
6FCVX-ray2.92B1-396[»]
SMRiQ13216
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi107581, 71 interactors
CORUMiQ13216
DIPiDIP-291N
IntActiQ13216, 11 interactors
MINTiQ13216
STRINGi9606.ENSP00000265038

PTM databases

iPTMnetiQ13216
PhosphoSitePlusiQ13216

Polymorphism and mutation databases

BioMutaiERCC8
DMDMi3121917

Proteomic databases

EPDiQ13216
jPOSTiQ13216
MassIVEiQ13216
MaxQBiQ13216
PaxDbiQ13216
PeptideAtlasiQ13216
PRIDEiQ13216
ProteomicsDBi59228 [Q13216-1]
59229 [Q13216-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		1161

Genome annotation databases

EnsembliENST00000265038; ENSP00000265038; ENSG00000049167 [Q13216-1]
GeneIDi1161
KEGGihsa:1161
UCSCiuc003jsm.4 human [Q13216-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1161
DisGeNETi1161

GeneCards: human genes, protein and diseases

More...GeneCardsi		ERCC8
GeneReviewsiERCC8
HGNCiHGNC:3439 ERCC8
HPAiHPA029328
MalaCardsiERCC8
MIMi216400 phenotype
609412 gene
614621 phenotype
neXtProtiNX_Q13216
OpenTargetsiENSG00000049167
Orphaneti90321 Cockayne syndrome type 1
90322 Cockayne syndrome type 2
90324 Cockayne syndrome type 3
178338 UV-sensitive syndrome
PharmGKBiPA27853

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4283 Eukaryota
ENOG410Z0MQ LUCA
GeneTreeiENSGT00390000009065
HOGENOMiCLU_032951_2_2_1
InParanoidiQ13216
KOiK10570
OMAiSIYPFDP
OrthoDBi800636at2759
PhylomeDBiQ13216
TreeFamiTF101237

Enzyme and pathway databases

UniPathwayiUPA00143
ReactomeiR-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-8951664 Neddylation
SignaLinkiQ13216

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ERCC8 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ERCC8_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1161
PharosiQ13216 Tbio

Protein Ontology

More...PROi		PR:Q13216
RNActiQ13216 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000049167 Expressed in kidney and 170 other tissues
ExpressionAtlasiQ13216 baseline and differential
GenevisibleiQ13216 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR042238 Rad28/ERCC8/Ckn1/ATCSA-1
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR46202 PTHR46202, 1 hit
PfamiView protein in Pfam
PF00400 WD40, 4 hits
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 5 hits
PS50294 WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiERCC8_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13216
Secondary accession number(s): B2RB64, Q6FHX5, Q96GB9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: February 26, 2020
This is version 188 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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