UniProtKB - P07992 (ERCC1_HUMAN)
Protein
DNA excision repair protein ERCC-1
Gene
ERCC1
Organism
Homo sapiens (Human)
Status
Functioni
Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4.3 Publications
Not functional in the nucleotide excision repair pathway.1 Publication
Not functional in the nucleotide excision repair pathway.1 Publication
Not functional in the nucleotide excision repair pathway.1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 134 – 156 | Sequence analysisAdd BLAST | 23 |
GO - Molecular functioni
- damaged DNA binding Source: UniProtKB
- endonuclease activity Source: UniProtKB-KW
- promoter-specific chromatin binding Source: Ensembl
- protein C-terminus binding Source: UniProtKB
- protein domain specific binding Source: UniProtKB
- single-stranded DNA binding Source: UniProtKB
- TFIID-class transcription factor complex binding Source: Ensembl
GO - Biological processi
- cell population proliferation Source: Ensembl
- DNA recombination Source: MGI
- DNA repair Source: MGI
- double-strand break repair via nonhomologous end joining Source: BHF-UCL
- embryonic organ development Source: Ensembl
- global genome nucleotide-excision repair Source: Reactome
- interstrand cross-link repair Source: Reactome
- isotype switching Source: Ensembl
- male gonad development Source: Ensembl
- meiotic mismatch repair Source: GO_Central
- mitotic recombination Source: UniProtKB
- multicellular organism aging Source: Ensembl
- multicellular organism growth Source: Ensembl
- negative regulation of protection from non-homologous end joining at telomere Source: BHF-UCL
- negative regulation of telomere maintenance Source: UniProtKB
- nucleotide-excision repair Source: MGI
- nucleotide-excision repair, DNA incision Source: Reactome
- nucleotide-excision repair, DNA incision, 3'-to lesion Source: UniProtKB
- nucleotide-excision repair, DNA incision, 5'-to lesion Source: UniProtKB
- nucleotide-excision repair, preincision complex stabilization Source: Reactome
- oogenesis Source: Ensembl
- positive regulation of t-circle formation Source: BHF-UCL
- positive regulation of transcription initiation from RNA polymerase II promoter Source: Ensembl
- post-embryonic hemopoiesis Source: Ensembl
- pyrimidine dimer repair by nucleotide-excision repair Source: Ensembl
- replicative senescence Source: Ensembl
- response to cadmium ion Source: Ensembl
- response to immobilization stress Source: Ensembl
- response to nutrient Source: Ensembl
- response to oxidative stress Source: UniProtKB
- response to sucrose Source: Ensembl
- response to X-ray Source: Ensembl
- spermatogenesis Source: Ensembl
- syncytium formation Source: Ensembl
- t-circle formation Source: BHF-UCL
- telomeric DNA-containing double minutes formation Source: BHF-UCL
- transcription-coupled nucleotide-excision repair Source: Reactome
- UV-damage excision repair Source: GO_Central
- UV protection Source: Ensembl
Keywordsi
Molecular function | DNA-binding, Endonuclease, Hydrolase, Nuclease |
Biological process | DNA damage, DNA repair |
Enzyme and pathway databases
PathwayCommonsi | P07992 |
Reactomei | R-HSA-5685938, HDR through Single Strand Annealing (SSA) R-HSA-5696395, Formation of Incision Complex in GG-NER R-HSA-5696400, Dual Incision in GG-NER R-HSA-6782135, Dual incision in TC-NER R-HSA-6783310, Fanconi Anemia Pathway |
SIGNORi | P07992 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA excision repair protein ERCC-1 |
Gene namesi | Name:ERCC1 |
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:3433, ERCC1 |
MIMi | 126380, gene |
neXtProti | NX_P07992 |
VEuPathDBi | HostDB:ENSG00000012061.15 |
Subcellular locationi
Nucleus
- ERCC4-ERCC1 complex Source: BHF-UCL
- nuclear chromosome, telomeric region Source: UniProtKB
- nucleoplasm Source: HPA
- nucleotide-excision repair complex Source: UniProtKB
- nucleotide-excision repair factor 1 complex Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Cerebro-oculo-facio-skeletal syndrome 4 (COFS4)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032776 | 231 | F → L in COFS4; does not alter interaction with ERCC4/XPF. 2 PublicationsCorresponds to variant dbSNP:rs121913028EnsemblClinVar. | 1 |
Keywords - Diseasei
CataractOrganism-specific databases
DisGeNETi | 2067 |
GeneReviewsi | ERCC1 |
MalaCardsi | ERCC1 |
MIMi | 610758, phenotype |
OpenTargetsi | ENSG00000012061 |
Orphaneti | 90322, Cockayne syndrome type 2 1466, COFS syndrome |
PharmGKBi | PA155 |
Miscellaneous databases
Pharosi | P07992, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3883316 |
Genetic variation databases
BioMutai | ERCC1 |
DMDMi | 119538 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000087006 | 1 – 297 | DNA excision repair protein ERCC-1Add BLAST | 297 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Cross-linki | 21 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 37 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 243 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Post-translational modificationi
Ubiquitinated with both 'Lys-48' and 'Lys-63' linkages (PubMed:25538220). Deubiquitinated by USP45 (PubMed:25538220).1 Publication
Keywords - PTMi
Acetylation, Isopeptide bond, Ubl conjugationProteomic databases
EPDi | P07992 |
jPOSTi | P07992 |
MassIVEi | P07992 |
MaxQBi | P07992 |
PaxDbi | P07992 |
PeptideAtlasi | P07992 |
PRIDEi | P07992 |
ProteomicsDBi | 3611 52055 [P07992-1] 52056 [P07992-2] 52057 [P07992-3] |
PTM databases
iPTMneti | P07992 |
PhosphoSitePlusi | P07992 |
Expressioni
Gene expression databases
Bgeei | ENSG00000012061, Expressed in apex of heart and 239 other tissues |
ExpressionAtlasi | P07992, baseline and differential |
Genevisiblei | P07992, HS |
Organism-specific databases
HPAi | ENSG00000012061, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsP07992
Isoform 3 [P07992-3]
With | #Exp. | IntAct |
---|---|---|
GAS8 [O95995] | 3 | EBI-12699417,EBI-1052570 |
UBL7 [Q96S82] | 3 | EBI-12699417,EBI-348604 |
XPA [P23025] | 3 | EBI-12699417,EBI-295222 |
GO - Molecular functioni
- protein C-terminus binding Source: UniProtKB
- protein domain specific binding Source: UniProtKB
- TFIID-class transcription factor complex binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 108379, 47 interactors |
ComplexPortali | CPX-478, ERCC1-XPF endonuclease complex [P07992-1] |
CORUMi | P07992 |
DIPi | DIP-24235N |
IntActi | P07992, 25 interactors |
MINTi | P07992 |
STRINGi | 9606.ENSP00000013807 |
Miscellaneous databases
RNActi | P07992, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | P07992 |
SMRi | P07992 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P07992 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 220 – 297 | HhH2, dimerization with ERCC4/XPF1 PublicationAdd BLAST | 78 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 17 – 23 | Nuclear localization signalSequence analysis | 7 |
Sequence similaritiesi
Belongs to the ERCC1/RAD10/SWI10 family.Curated
Phylogenomic databases
eggNOGi | KOG2841, Eukaryota |
GeneTreei | ENSGT00390000011275 |
InParanoidi | P07992 |
OMAi | LNPDYIC |
OrthoDBi | 1336192at2759 |
PhylomeDBi | P07992 |
TreeFami | TF101231 |
Family and domain databases
IDEALi | IID00364 |
InterProi | View protein in InterPro IPR004579, ERCC1/RAD10/SWI10 IPR011335, Restrct_endonuc-II-like IPR010994, RuvA_2-like |
PANTHERi | PTHR12749, PTHR12749, 1 hit |
Pfami | View protein in Pfam PF03834, Rad10, 1 hit |
SUPFAMi | SSF47781, SSF47781, 1 hit SSF52980, SSF52980, 1 hit |
TIGRFAMsi | TIGR00597, rad10, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P07992-1) [UniParc]FASTAAdd to basket
Also known as: 202
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
MDPGKDKEGV PQPSGPPARK KFVIPLDEDE VPPGVAKPLF RSTQSLPTVD
60 70 80 90 100
TSAQAAPQTY AEYAISQPLE GAGATCPTGS EPLAGETPNQ ALKPGAKSNS
110 120 130 140 150
IIVSPRQRGN PVLKFVRNVP WEFGDVIPDY VLGQSTCALF LSLRYHNLHP
160 170 180 190 200
DYIHGRLQSL GKNFALRVLL VQVDVKDPQQ ALKELAKMCI LADCTLILAW
210 220 230 240 250
SPEEAGRYLE TYKAYEQKPA DLLMEKLEQD FVSRVTECLT TVKSVNKTDS
260 270 280 290
QTLLTTFGSL EQLIAASRED LALCPGLGPQ KARRLFDVLH EPFLKVP
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7ER60 | K7ER60_HUMAN | DNA excision repair protein ERCC-1 | ERCC1 | 213 | Annotation score: | ||
K7EJW9 | K7EJW9_HUMAN | DNA excision repair protein ERCC-1 | ERCC1 | 112 | Annotation score: | ||
K7EP14 | K7EP14_HUMAN | DNA excision repair protein ERCC-1 | ERCC1 | 258 | Annotation score: | ||
K7ER89 | K7ER89_HUMAN | DNA excision repair protein ERCC-1 | ERCC1 | 234 | Annotation score: | ||
K7ES46 | K7ES46_HUMAN | DNA excision repair protein ERCC-1 | ERCC1 | 209 | Annotation score: | ||
K7EK97 | K7EK97_HUMAN | DNA excision repair protein ERCC-1 | ERCC1 | 141 | Annotation score: | ||
K7EMT9 | K7EMT9_HUMAN | DNA excision repair protein ERCC-1 | ERCC1 | 91 | Annotation score: | ||
K7EJL2 | K7EJL2_HUMAN | DNA excision repair protein ERCC-1 | ERCC1 | 45 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 53 | A → P in BAG37398 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032776 | 231 | F → L in COFS4; does not alter interaction with ERCC4/XPF. 2 PublicationsCorresponds to variant dbSNP:rs121913028EnsemblClinVar. | 1 | |
Natural variantiVAR_019167 | 266 | A → T1 PublicationCorresponds to variant dbSNP:rs3212977EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_053474 | 36 – 107 | Missing in isoform 4. 1 PublicationAdd BLAST | 72 | |
Alternative sequenceiVSP_042727 | 235 – 258 | Missing in isoform 2. 1 PublicationAdd BLAST | 24 | |
Alternative sequenceiVSP_043455 | 282 – 297 | ARRLF…FLKVP → VRALGKNPRSWGKERAPNKH NLRPQSFKVKKEPKTRHSGF RL in isoform 3. 1 PublicationAdd BLAST | 16 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000013807; ENSP00000013807; ENSG00000012061 [P07992-3] ENST00000300853; ENSP00000300853; ENSG00000012061 [P07992-1] ENST00000340192; ENSP00000345203; ENSG00000012061 [P07992-2] ENST00000423698; ENSP00000394875; ENSG00000012061 [P07992-4] ENST00000589165; ENSP00000468035; ENSG00000012061 [P07992-1] |
GeneIDi | 2067 |
KEGGi | hsa:2067 |
UCSCi | uc002pbs.3, human [P07992-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
NIEHS-SNPs |
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1Z00 | NMR | - | A | 220-297 | [»] | |
2A1I | X-ray | 1.90 | A | 96-227 | [»] | |
2A1J | X-ray | 2.70 | B | 220-296 | [»] | |
2JNW | NMR | - | A | 96-214 | [»] | |
2JPD | NMR | - | A | 96-219 | [»] | |
2MUT | NMR | - | A | 220-297 | [»] | |
6SXA | electron microscopy | 3.60 | G | 1-297 | [»] | |
6SXB | electron microscopy | 7.90 | G | 1-297 | [»] | |
BMRBi | P07992 | |||||
SMRi | P07992 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108379, 47 interactors |
ComplexPortali | CPX-478, ERCC1-XPF endonuclease complex [P07992-1] |
CORUMi | P07992 |
DIPi | DIP-24235N |
IntActi | P07992, 25 interactors |
MINTi | P07992 |
STRINGi | 9606.ENSP00000013807 |
Chemistry databases
ChEMBLi | CHEMBL3883316 |
PTM databases
iPTMneti | P07992 |
PhosphoSitePlusi | P07992 |
Genetic variation databases
BioMutai | ERCC1 |
DMDMi | 119538 |
Proteomic databases
EPDi | P07992 |
jPOSTi | P07992 |
MassIVEi | P07992 |
MaxQBi | P07992 |
PaxDbi | P07992 |
PeptideAtlasi | P07992 |
PRIDEi | P07992 |
ProteomicsDBi | 3611 52055 [P07992-1] 52056 [P07992-2] 52057 [P07992-3] |
Protocols and materials databases
Antibodypediai | 3826, 1233 antibodies |
DNASUi | 2067 |
Genome annotation databases
Ensembli | ENST00000013807; ENSP00000013807; ENSG00000012061 [P07992-3] ENST00000300853; ENSP00000300853; ENSG00000012061 [P07992-1] ENST00000340192; ENSP00000345203; ENSG00000012061 [P07992-2] ENST00000423698; ENSP00000394875; ENSG00000012061 [P07992-4] ENST00000589165; ENSP00000468035; ENSG00000012061 [P07992-1] |
GeneIDi | 2067 |
KEGGi | hsa:2067 |
UCSCi | uc002pbs.3, human [P07992-1] |
Organism-specific databases
CTDi | 2067 |
DisGeNETi | 2067 |
GeneCardsi | ERCC1 |
GeneReviewsi | ERCC1 |
HGNCi | HGNC:3433, ERCC1 |
HPAi | ENSG00000012061, Low tissue specificity |
MalaCardsi | ERCC1 |
MIMi | 126380, gene 610758, phenotype |
neXtProti | NX_P07992 |
OpenTargetsi | ENSG00000012061 |
Orphaneti | 90322, Cockayne syndrome type 2 1466, COFS syndrome |
PharmGKBi | PA155 |
VEuPathDBi | HostDB:ENSG00000012061.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2841, Eukaryota |
GeneTreei | ENSGT00390000011275 |
InParanoidi | P07992 |
OMAi | LNPDYIC |
OrthoDBi | 1336192at2759 |
PhylomeDBi | P07992 |
TreeFami | TF101231 |
Enzyme and pathway databases
PathwayCommonsi | P07992 |
Reactomei | R-HSA-5685938, HDR through Single Strand Annealing (SSA) R-HSA-5696395, Formation of Incision Complex in GG-NER R-HSA-5696400, Dual Incision in GG-NER R-HSA-6782135, Dual incision in TC-NER R-HSA-6783310, Fanconi Anemia Pathway |
SIGNORi | P07992 |
Miscellaneous databases
BioGRID-ORCSi | 2067, 54 hits in 875 CRISPR screens |
ChiTaRSi | ERCC1, human |
EvolutionaryTracei | P07992 |
GeneWikii | ERCC1 |
GenomeRNAii | 2067 |
Pharosi | P07992, Tbio |
PROi | PR:P07992 |
RNActi | P07992, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000012061, Expressed in apex of heart and 239 other tissues |
ExpressionAtlasi | P07992, baseline and differential |
Genevisiblei | P07992, HS |
Family and domain databases
IDEALi | IID00364 |
InterProi | View protein in InterPro IPR004579, ERCC1/RAD10/SWI10 IPR011335, Restrct_endonuc-II-like IPR010994, RuvA_2-like |
PANTHERi | PTHR12749, PTHR12749, 1 hit |
Pfami | View protein in Pfam PF03834, Rad10, 1 hit |
SUPFAMi | SSF47781, SSF47781, 1 hit SSF52980, SSF52980, 1 hit |
TIGRFAMsi | TIGR00597, rad10, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ERCC1_HUMAN | |
Accessioni | P07992Primary (citable) accession number: P07992 Secondary accession number(s): B2RC01 Q96S40 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 1, 1988 |
Last sequence update: | August 1, 1988 | |
Last modified: | February 10, 2021 | |
This is version 201 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, Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants