UniProtKB - Q13216 (ERCC8_HUMAN)
DNA excision repair protein ERCC-8
ERCC8
Functioni
: protein ubiquitination Pathwayi
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.
GO - Molecular functioni
- protein-containing complex binding Source: UniProtKB
GO - Biological processi
- cellular response to DNA damage stimulus Source: UniProtKB
- DNA duplex unwinding Source: GOC
- double-strand break repair via classical nonhomologous end joining Source: UniProtKB
- nucleotide-excision repair Source: UniProtKB
- positive regulation of DNA repair Source: UniProtKB
- post-translational protein modification Source: Reactome
- proteasome-mediated ubiquitin-dependent protein catabolic process Source: UniProtKB
- protein autoubiquitination Source: UniProtKB
- protein polyubiquitination Source: UniProtKB
- response to auditory stimulus Source: Ensembl
- response to organic cyclic compound Source: Ensembl
- response to oxidative stress Source: UniProtKB
- response to UV Source: UniProtKB
- response to X-ray Source: Ensembl
- single strand break repair Source: UniProtKB
- transcription-coupled nucleotide-excision repair Source: MGI
Keywordsi
Biological process | DNA damage, DNA repair, Ubl conjugation pathway |
Enzyme and pathway databases
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 |
SignaLinki | Q13216 |
UniPathwayi | UPA00143 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA excision repair protein ERCC-8Alternative name(s): Cockayne syndrome WD repeat protein CSA |
Gene namesi | Name:ERCC8 Synonyms:CKN1, CSA |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3439 ERCC8 |
MIMi | 609412 gene |
neXtProti | NX_Q13216 |
Subcellular locationi
Nucleus
- Nucleus Curated
- Nucleus matrix 1 Publication
Note: UV-induced translocation to the nuclear matrix is dependent on ERCC6.1 Publication
Nucleus
- nuclear matrix Source: UniProtKB
- nucleoplasm Source: Reactome
- nucleotide-excision repair complex Source: MGI
- nucleus Source: MGI
Other locations
- Cul4-RING E3 ubiquitin ligase complex Source: UniProtKB
- Cul4A-RING E3 ubiquitin ligase complex Source: UniProtKB
- cytoplasm Source: Ensembl
- perikaryon Source: Ensembl
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Cockayne syndrome A (CSA)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063507 | 160 | A → T in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875222EnsemblClinVar. | 1 | |
Natural variantiVAR_025380 | 160 | A → V in CSA. 1 PublicationCorresponds to variant dbSNP:rs121434325EnsemblClinVar. | 1 | |
Natural variantiVAR_063508 | 194 | W → C in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875223EnsemblClinVar. | 1 | |
Natural variantiVAR_063509 | 202 | L → S in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875224EnsemblClinVar. | 1 | |
Natural variantiVAR_025381 | 205 | A → P in CSA. 1 PublicationCorresponds to variant dbSNP:rs121434326EnsemblClinVar. | 1 | |
Natural variantiVAR_063510 | 266 | D → G in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875225EnsemblClinVar. | 1 |
UV-sensitive syndrome 2 (UVSS2)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068177 | 361 | W → C in UVSS2. 1 PublicationCorresponds to variant dbSNP:rs281875221EnsemblClinVar. | 1 |
Keywords - Diseasei
Cockayne syndrome, Deafness, Disease mutation, DwarfismOrganism-specific databases
DisGeNETi | 1161 |
GeneReviewsi | ERCC8 |
MalaCardsi | ERCC8 |
MIMi | 216400 phenotype 614621 phenotype |
OpenTargetsi | ENSG00000049167 |
Orphaneti | 90321 Cockayne syndrome type 1 90322 Cockayne syndrome type 2 90324 Cockayne syndrome type 3 178338 UV-sensitive syndrome |
PharmGKBi | PA27853 |
Miscellaneous databases
Pharosi | Q13216 |
Polymorphism and mutation databases
BioMutai | ERCC8 |
DMDMi | 3121917 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000050970 | 1 – 396 | DNA excision repair protein ERCC-8Add BLAST | 396 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 390 | PhosphoserineCombined sources | 1 | |
Modified residuei | 391 | PhosphoserineCombined sources | 1 | |
Modified residuei | 392 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q13216 |
jPOSTi | Q13216 |
MassIVEi | Q13216 |
MaxQBi | Q13216 |
PaxDbi | Q13216 |
PeptideAtlasi | Q13216 |
PRIDEi | Q13216 |
ProteomicsDBi | 59228 [Q13216-1] 59229 [Q13216-2] |
PTM databases
iPTMneti | Q13216 |
PhosphoSitePlusi | Q13216 |
Expressioni
Gene expression databases
Bgeei | ENSG00000049167 Expressed in 171 organ(s), highest expression level in kidney |
ExpressionAtlasi | Q13216 baseline and differential |
Genevisiblei | Q13216 HS |
Organism-specific databases
HPAi | HPA029328 |
Interactioni
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 PublicationsBinary interactionsi
Protein-protein interaction databases
BioGridi | 107581, 71 interactors |
CORUMi | Q13216 |
DIPi | DIP-291N |
IntActi | Q13216, 11 interactors |
MINTi | Q13216 |
STRINGi | 9606.ENSP00000265038 |
Structurei
Secondary structure
3D structure databases
SMRi | Q13216 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 33 – 73 | WD 1Add BLAST | 41 | |
Repeati | 88 – 129 | WD 2Add BLAST | 42 | |
Repeati | 133 – 173 | WD 3Add BLAST | 41 | |
Repeati | 177 – 216 | WD 4Add BLAST | 40 | |
Repeati | 235 – 274 | WD 5Add BLAST | 40 | |
Repeati | 281 – 321 | WD 6Add BLAST | 41 | |
Repeati | 325 – 363 | WD 7Add BLAST | 39 |
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG4283 Eukaryota ENOG410Z0MQ LUCA |
GeneTreei | ENSGT00390000009065 |
HOGENOMi | HOG000248233 |
InParanoidi | Q13216 |
KOi | K10570 |
OMAi | SIYPFDP |
OrthoDBi | 800636at2759 |
PhylomeDBi | Q13216 |
TreeFami | TF101237 |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
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 |
PANTHERi | PTHR46202 PTHR46202, 1 hit |
Pfami | View protein in Pfam PF00400 WD40, 4 hits |
PRINTSi | PR00320 GPROTEINBRPT |
SMARTi | View protein in SMART SM00320 WD40, 5 hits |
SUPFAMi | SSF50978 SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS00678 WD_REPEATS_1, 2 hits PS50082 WD_REPEATS_2, 5 hits PS50294 WD_REPEATS_REGION, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JNT2 | C9JNT2_HUMAN | DNA excision repair protein ERCC-8 | ERCC8 | 134 | Annotation score: | ||
A0A2R8Y5I1 | A0A2R8Y5I1_HUMAN | DNA excision repair protein ERCC-8 | ERCC8 | 189 | Annotation score: | ||
A0A2R8YD24 | A0A2R8YD24_HUMAN | DNA excision repair protein ERCC-8 | ERCC8 | 159 | Annotation score: | ||
A0A2R8YEZ3 | A0A2R8YEZ3_HUMAN | DNA excision repair protein ERCC-8 | ERCC8 | 137 | Annotation score: | ||
G3XAG7 | G3XAG7_HUMAN | DNA excision repair protein ERCC-8 | ERCC8 hCG_2003063 | 57 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053392 | 150 | S → C. Corresponds to variant dbSNP:rs167037Ensembl. | 1 | |
Natural variantiVAR_063507 | 160 | A → T in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875222EnsemblClinVar. | 1 | |
Natural variantiVAR_025380 | 160 | A → V in CSA. 1 PublicationCorresponds to variant dbSNP:rs121434325EnsemblClinVar. | 1 | |
Natural variantiVAR_063508 | 194 | W → C in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875223EnsemblClinVar. | 1 | |
Natural variantiVAR_016319 | 200 | Y → C1 PublicationCorresponds to variant dbSNP:rs4647105Ensembl. | 1 | |
Natural variantiVAR_063509 | 202 | L → S in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875224EnsemblClinVar. | 1 | |
Natural variantiVAR_025381 | 205 | A → P in CSA. 1 PublicationCorresponds to variant dbSNP:rs121434326EnsemblClinVar. | 1 | |
Natural variantiVAR_063510 | 266 | D → G in CSA. 1 PublicationCorresponds to variant dbSNP:rs281875225EnsemblClinVar. | 1 | |
Natural variantiVAR_068177 | 361 | W → C in UVSS2. 1 PublicationCorresponds to variant dbSNP:rs281875221EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_013914 | 185 – 205 | HRQEI…ILATA → IFILFQTATTLSKRFNKKKR Y in isoform 2. 1 PublicationAdd BLAST | 21 | |
Alternative sequenceiVSP_013915 | 206 – 396 | Missing in isoform 2. 1 PublicationAdd BLAST | 191 |
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 |
CCDSi | CCDS3978.1 [Q13216-1] |
PIRi | A57090 |
RefSeqi | NP_000073.1, NM_000082.3 [Q13216-1] NP_001007235.1, NM_001007234.2 [Q13216-2] |
Genome annotation databases
Ensembli | ENST00000265038; ENSP00000265038; ENSG00000049167 [Q13216-1] |
GeneIDi | 1161 |
KEGGi | hsa:1161 |
UCSCi | uc003jsm.4 human [Q13216-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
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 |
CCDSi | CCDS3978.1 [Q13216-1] |
PIRi | A57090 |
RefSeqi | NP_000073.1, NM_000082.3 [Q13216-1] NP_001007235.1, NM_001007234.2 [Q13216-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4A11 | X-ray | 3.31 | B | 1-396 | [»] | |
6FCV | X-ray | 2.92 | B | 1-396 | [»] | |
SMRi | Q13216 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGridi | 107581, 71 interactors |
CORUMi | Q13216 |
DIPi | DIP-291N |
IntActi | Q13216, 11 interactors |
MINTi | Q13216 |
STRINGi | 9606.ENSP00000265038 |
PTM databases
iPTMneti | Q13216 |
PhosphoSitePlusi | Q13216 |
Polymorphism and mutation databases
BioMutai | ERCC8 |
DMDMi | 3121917 |
Proteomic databases
EPDi | Q13216 |
jPOSTi | Q13216 |
MassIVEi | Q13216 |
MaxQBi | Q13216 |
PaxDbi | Q13216 |
PeptideAtlasi | Q13216 |
PRIDEi | Q13216 |
ProteomicsDBi | 59228 [Q13216-1] 59229 [Q13216-2] |
Protocols and materials databases
DNASUi | 1161 |
Genome annotation databases
Ensembli | ENST00000265038; ENSP00000265038; ENSG00000049167 [Q13216-1] |
GeneIDi | 1161 |
KEGGi | hsa:1161 |
UCSCi | uc003jsm.4 human [Q13216-1] |
Organism-specific databases
CTDi | 1161 |
DisGeNETi | 1161 |
GeneCardsi | ERCC8 |
GeneReviewsi | ERCC8 |
HGNCi | HGNC:3439 ERCC8 |
HPAi | HPA029328 |
MalaCardsi | ERCC8 |
MIMi | 216400 phenotype 609412 gene 614621 phenotype |
neXtProti | NX_Q13216 |
OpenTargetsi | ENSG00000049167 |
Orphaneti | 90321 Cockayne syndrome type 1 90322 Cockayne syndrome type 2 90324 Cockayne syndrome type 3 178338 UV-sensitive syndrome |
PharmGKBi | PA27853 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4283 Eukaryota ENOG410Z0MQ LUCA |
GeneTreei | ENSGT00390000009065 |
HOGENOMi | HOG000248233 |
InParanoidi | Q13216 |
KOi | K10570 |
OMAi | SIYPFDP |
OrthoDBi | 800636at2759 |
PhylomeDBi | Q13216 |
TreeFami | TF101237 |
Enzyme and pathway databases
UniPathwayi | UPA00143 |
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 |
SignaLinki | Q13216 |
Miscellaneous databases
ChiTaRSi | ERCC8 human |
GeneWikii | ERCC8_(gene) |
GenomeRNAii | 1161 |
Pharosi | Q13216 |
PROi | PR:Q13216 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000049167 Expressed in 171 organ(s), highest expression level in kidney |
ExpressionAtlasi | Q13216 baseline and differential |
Genevisiblei | Q13216 HS |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
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 |
PANTHERi | PTHR46202 PTHR46202, 1 hit |
Pfami | View protein in Pfam PF00400 WD40, 4 hits |
PRINTSi | PR00320 GPROTEINBRPT |
SMARTi | View protein in SMART SM00320 WD40, 5 hits |
SUPFAMi | SSF50978 SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS00678 WD_REPEATS_1, 2 hits PS50082 WD_REPEATS_2, 5 hits PS50294 WD_REPEATS_REGION, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ERCC8_HUMAN | |
Accessioni | Q13216Primary (citable) accession number: Q13216 Secondary accession number(s): B2RB64, Q6FHX5, Q96GB9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | November 1, 1996 | |
Last modified: | October 16, 2019 | |
This is version 186 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references