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Protein

DNA excision repair protein ERCC-1

Gene

ERCC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Isoform 1: 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.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi134 – 156Sequence analysisAdd BLAST23

GO - Molecular functioni

  • damaged DNA binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB
  • protein domain specific binding Source: UniProtKB
  • single-stranded DNA binding Source: UniProtKB
  • single-stranded DNA endodeoxyribonuclease activity Source: GO_Central
  • TFIID-class transcription factor complex binding Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Endonuclease, Hydrolase, Nuclease
Biological processDNA damage, DNA repair

Enzyme and pathway databases

ReactomeiR-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
SIGNORiP07992

Names & Taxonomyi

Protein namesi
Recommended name:
DNA excision repair protein ERCC-1
Gene namesi
Name:ERCC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000012061.15
HGNCiHGNC:3433 ERCC1
MIMi126380 gene
neXtProtiNX_P07992

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Cerebro-oculo-facio-skeletal syndrome 4 (COFS4)2 Publications
The disease is caused by mutations 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.
See also OMIM:610758
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032776231F → L in COFS4; does not alter interaction with XPF/ERCC4 or GTF2H1. 2 PublicationsCorresponds to variant dbSNP:rs121913028EnsemblClinVar.1

Keywords - Diseasei

Cataract

Organism-specific databases

DisGeNETi2067
GeneReviewsiERCC1
MalaCardsiERCC1
MIMi610758 phenotype
OpenTargetsiENSG00000012061
Orphaneti90322 Cockayne syndrome type 2
1466 COFS syndrome
PharmGKBiPA155

Chemistry databases

ChEMBLiCHEMBL3883316

Polymorphism and mutation databases

BioMutaiERCC1
DMDMi119538

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000870061 – 297DNA excision repair protein ERCC-1Add BLAST297

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Cross-linki21Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki37Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki243Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiP07992
MaxQBiP07992
PaxDbiP07992
PeptideAtlasiP07992
PRIDEiP07992
ProteomicsDBi52055
52056 [P07992-2]
52057 [P07992-3]

PTM databases

iPTMnetiP07992
PhosphoSitePlusiP07992

Expressioni

Gene expression databases

BgeeiENSG00000012061 Expressed in 227 organ(s), highest expression level in apex of heart
CleanExiHS_ERCC1
ExpressionAtlasiP07992 baseline and differential
GenevisibleiP07992 HS

Organism-specific databases

HPAiCAB004390
CAB072859
CAB072860
HPA029773
HPA050182

Interactioni

Subunit structurei

Heterodimer composed of ERCC1 isoform 1 and XPF/ERRC4.3 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108379, 38 interactors
ComplexPortaliCPX-478 ERCC1-XPF endonuclease complex [P07992-1]
CORUMiP07992
DIPiDIP-24235N
IntActiP07992, 19 interactors
MINTiP07992
STRINGi9606.ENSP00000013807

Structurei

Secondary structure

1297
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP07992
SMRiP07992
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP07992

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni220 – 297HhH2, dimerization with ERCC4Add BLAST78

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi17 – 23Nuclear localization signalSequence analysis7

Sequence similaritiesi

Belongs to the ERCC1/RAD10/SWI10 family.Curated

Phylogenomic databases

eggNOGiKOG2841 Eukaryota
COG5241 LUCA
GeneTreeiENSGT00390000011275
HOGENOMiHOG000037440
HOVERGENiHBG051497
InParanoidiP07992
KOiK10849
OMAiLNPDYIC
OrthoDBiEOG091G0IRO
PhylomeDBiP07992
TreeFamiTF101231

Family and domain databases

InterProiView protein in InterPro
IPR004579 ERCC1/RAD10/SWI10
IPR011335 Restrct_endonuc-II-like
IPR010994 RuvA_2-like
PANTHERiPTHR12749 PTHR12749, 1 hit
PfamiView protein in Pfam
PF03834 Rad10, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD013585 DNA_repair_Rad10, 1 hit
SUPFAMiSSF47781 SSF47781, 1 hit
SSF52980 SSF52980, 1 hit
TIGRFAMsiTIGR00597 rad10, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 'canonical' 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
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
Length:297
Mass (Da):32,562
Last modified:August 1, 1988 - v1
Checksum:i6FCE3615732349E5
GO
Isoform 2 (identifier: P07992-2) [UniParc]FASTAAdd to basket
Also known as: 203

The sequence of this isoform differs from the canonical sequence as follows:
     235-258: Missing.

Note: Not functional in the nucleotide excision repair pathway. Does not interact with XPF/ERCC4.
Show »
Length:273
Mass (Da):29,993
Checksum:i04DA21E774A33524
GO
Isoform 3 (identifier: P07992-3) [UniParc]FASTAAdd to basket
Also known as: 201

The sequence of this isoform differs from the canonical sequence as follows:
     282-297: ARRLFDVLHEPFLKVP → VRALGKNPRSWGKERAPNKHNLRPQSFKVKKEPKTRHSGFRL

Note: Not functional in the nucleotide excision repair pathway. Does not interact with XPF/ERCC4.
Show »
Length:323
Mass (Da):35,563
Checksum:iD99BFAC9CE8E912E
GO
Isoform 4 (identifier: P07992-4) [UniParc]FASTAAdd to basket
Also known as: 204

The sequence of this isoform differs from the canonical sequence as follows:
     36-107: Missing.

Note: Not functional in the nucleotide excision repair pathway. Does not interact with XPF/ERCC4.
Show »
Length:225
Mass (Da):25,211
Checksum:iAF78F4C26AC7DA7E
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ES46K7ES46_HUMAN
DNA excision repair protein ERCC-1
ERCC1
209Annotation score:
K7ER60K7ER60_HUMAN
DNA excision repair protein ERCC-1
ERCC1
213Annotation score:
K7ER89K7ER89_HUMAN
DNA excision repair protein ERCC-1
ERCC1
234Annotation score:
K7EP14K7EP14_HUMAN
DNA excision repair protein ERCC-1
ERCC1
258Annotation score:
K7EJW9K7EJW9_HUMAN
DNA excision repair protein ERCC-1
ERCC1
112Annotation score:
K7EMT9K7EMT9_HUMAN
DNA excision repair protein ERCC-1
ERCC1
91Annotation score:
K7EK97K7EK97_HUMAN
DNA excision repair protein ERCC-1
ERCC1
141Annotation score:
K7EJL2K7EJL2_HUMAN
DNA excision repair protein ERCC-1
ERCC1
45Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti53A → P in BAG37398 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032776231F → L in COFS4; does not alter interaction with XPF/ERCC4 or GTF2H1. 2 PublicationsCorresponds to variant dbSNP:rs121913028EnsemblClinVar.1
Natural variantiVAR_019167266A → T1 PublicationCorresponds to variant dbSNP:rs3212977Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05347436 – 107Missing in isoform 4. 1 PublicationAdd BLAST72
Alternative sequenceiVSP_042727235 – 258Missing in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_043455282 – 297ARRLF…FLKVP → VRALGKNPRSWGKERAPNKH NLRPQSFKVKKEPKTRHSGF RL in isoform 3. 1 PublicationAdd BLAST16

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M13194 mRNA Translation: AAA52394.1
M26163 Genomic DNA Translation: AAA52395.1
M28650 mRNA Translation: AAA35810.1
AF001925 mRNA Translation: AAC16253.1
AB069681 mRNA Translation: BAB62810.1
BT019806 mRNA Translation: AAV38609.1
AF512555 Genomic DNA Translation: AAM34796.1
AK092039 mRNA Translation: BAG52472.1
AK314884 mRNA Translation: BAG37398.1
AC092309 Genomic DNA No translation available.
AC138128 Genomic DNA No translation available.
AC138534 Genomic DNA No translation available.
AC139353 Genomic DNA No translation available.
CH471126 Genomic DNA Translation: EAW57349.1
BC008930 mRNA Translation: AAH08930.1
BC052813 mRNA Translation: AAH52813.1
CCDSiCCDS12662.1 [P07992-1]
CCDS12663.1 [P07992-3]
CCDS54279.1 [P07992-2]
PIRiA32875 A24781
RefSeqiNP_001159521.1, NM_001166049.1 [P07992-2]
NP_001974.1, NM_001983.3 [P07992-1]
NP_973730.1, NM_202001.2 [P07992-3]
XP_005258691.1, XM_005258634.1 [P07992-3]
XP_005258692.1, XM_005258635.2 [P07992-3]
XP_005258693.1, XM_005258636.4 [P07992-3]
XP_011524912.1, XM_011526610.2 [P07992-3]
XP_016881948.1, XM_017026459.1 [P07992-3]
XP_016881949.1, XM_017026460.1 [P07992-1]
XP_016881950.1, XM_017026461.1 [P07992-1]
XP_016881951.1, XM_017026462.1 [P07992-1]
XP_016881952.1, XM_017026463.1 [P07992-1]
XP_016881953.1, XM_017026464.1 [P07992-1]
XP_016881954.1, XM_017026465.1 [P07992-2]
XP_016881955.1, XM_017026466.1 [P07992-2]
UniGeneiHs.435981

Genome annotation databases

EnsembliENST00000013807; ENSP00000013807; ENSG00000012061 [P07992-3]
ENST00000300853; ENSP00000300853; ENSG00000012061 [P07992-1]
ENST00000340192; ENSP00000345203; ENSG00000012061 [P07992-2]
ENST00000423698; ENSP00000394875; ENSG00000012061 [P07992-4]
ENST00000589165; ENSP00000468035; ENSG00000012061 [P07992-1]
GeneIDi2067
KEGGihsa:2067
UCSCiuc002pbs.3 human [P07992-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M13194 mRNA Translation: AAA52394.1
M26163 Genomic DNA Translation: AAA52395.1
M28650 mRNA Translation: AAA35810.1
AF001925 mRNA Translation: AAC16253.1
AB069681 mRNA Translation: BAB62810.1
BT019806 mRNA Translation: AAV38609.1
AF512555 Genomic DNA Translation: AAM34796.1
AK092039 mRNA Translation: BAG52472.1
AK314884 mRNA Translation: BAG37398.1
AC092309 Genomic DNA No translation available.
AC138128 Genomic DNA No translation available.
AC138534 Genomic DNA No translation available.
AC139353 Genomic DNA No translation available.
CH471126 Genomic DNA Translation: EAW57349.1
BC008930 mRNA Translation: AAH08930.1
BC052813 mRNA Translation: AAH52813.1
CCDSiCCDS12662.1 [P07992-1]
CCDS12663.1 [P07992-3]
CCDS54279.1 [P07992-2]
PIRiA32875 A24781
RefSeqiNP_001159521.1, NM_001166049.1 [P07992-2]
NP_001974.1, NM_001983.3 [P07992-1]
NP_973730.1, NM_202001.2 [P07992-3]
XP_005258691.1, XM_005258634.1 [P07992-3]
XP_005258692.1, XM_005258635.2 [P07992-3]
XP_005258693.1, XM_005258636.4 [P07992-3]
XP_011524912.1, XM_011526610.2 [P07992-3]
XP_016881948.1, XM_017026459.1 [P07992-3]
XP_016881949.1, XM_017026460.1 [P07992-1]
XP_016881950.1, XM_017026461.1 [P07992-1]
XP_016881951.1, XM_017026462.1 [P07992-1]
XP_016881952.1, XM_017026463.1 [P07992-1]
XP_016881953.1, XM_017026464.1 [P07992-1]
XP_016881954.1, XM_017026465.1 [P07992-2]
XP_016881955.1, XM_017026466.1 [P07992-2]
UniGeneiHs.435981

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Z00NMR-A220-297[»]
2A1IX-ray1.90A96-227[»]
2A1JX-ray2.70B220-296[»]
2JNWNMR-A96-214[»]
2JPDNMR-A96-219[»]
2MUTNMR-A220-297[»]
ProteinModelPortaliP07992
SMRiP07992
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108379, 38 interactors
ComplexPortaliCPX-478 ERCC1-XPF endonuclease complex [P07992-1]
CORUMiP07992
DIPiDIP-24235N
IntActiP07992, 19 interactors
MINTiP07992
STRINGi9606.ENSP00000013807

Chemistry databases

ChEMBLiCHEMBL3883316

PTM databases

iPTMnetiP07992
PhosphoSitePlusiP07992

Polymorphism and mutation databases

BioMutaiERCC1
DMDMi119538

Proteomic databases

EPDiP07992
MaxQBiP07992
PaxDbiP07992
PeptideAtlasiP07992
PRIDEiP07992
ProteomicsDBi52055
52056 [P07992-2]
52057 [P07992-3]

Protocols and materials databases

DNASUi2067
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000013807; ENSP00000013807; ENSG00000012061 [P07992-3]
ENST00000300853; ENSP00000300853; ENSG00000012061 [P07992-1]
ENST00000340192; ENSP00000345203; ENSG00000012061 [P07992-2]
ENST00000423698; ENSP00000394875; ENSG00000012061 [P07992-4]
ENST00000589165; ENSP00000468035; ENSG00000012061 [P07992-1]
GeneIDi2067
KEGGihsa:2067
UCSCiuc002pbs.3 human [P07992-1]

Organism-specific databases

CTDi2067
DisGeNETi2067
EuPathDBiHostDB:ENSG00000012061.15
GeneCardsiERCC1
GeneReviewsiERCC1
HGNCiHGNC:3433 ERCC1
HPAiCAB004390
CAB072859
CAB072860
HPA029773
HPA050182
MalaCardsiERCC1
MIMi126380 gene
610758 phenotype
neXtProtiNX_P07992
OpenTargetsiENSG00000012061
Orphaneti90322 Cockayne syndrome type 2
1466 COFS syndrome
PharmGKBiPA155
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2841 Eukaryota
COG5241 LUCA
GeneTreeiENSGT00390000011275
HOGENOMiHOG000037440
HOVERGENiHBG051497
InParanoidiP07992
KOiK10849
OMAiLNPDYIC
OrthoDBiEOG091G0IRO
PhylomeDBiP07992
TreeFamiTF101231

Enzyme and pathway databases

ReactomeiR-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
SIGNORiP07992

Miscellaneous databases

ChiTaRSiERCC1 human
EvolutionaryTraceiP07992
GeneWikiiERCC1
GenomeRNAii2067
PROiPR:P07992
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000012061 Expressed in 227 organ(s), highest expression level in apex of heart
CleanExiHS_ERCC1
ExpressionAtlasiP07992 baseline and differential
GenevisibleiP07992 HS

Family and domain databases

InterProiView protein in InterPro
IPR004579 ERCC1/RAD10/SWI10
IPR011335 Restrct_endonuc-II-like
IPR010994 RuvA_2-like
PANTHERiPTHR12749 PTHR12749, 1 hit
PfamiView protein in Pfam
PF03834 Rad10, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD013585 DNA_repair_Rad10, 1 hit
SUPFAMiSSF47781 SSF47781, 1 hit
SSF52980 SSF52980, 1 hit
TIGRFAMsiTIGR00597 rad10, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiERCC1_HUMAN
AccessioniPrimary (citable) accession number: P07992
Secondary accession number(s): B2RC01
, B3KRR0, Q7Z7F5, Q96S40
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: August 1, 1988
Last modified: November 7, 2018
This is version 185 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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