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Protein

DNA excision repair protein ERCC-6

Gene

ERCC6

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

Functioni

Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II-blocking lesions.4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi532 – 539ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Helicase, Hydrolase
Biological processDNA damage, DNA repair, Transcription, Transcription regulation
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
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-73762 RNA Polymerase I Transcription Initiation
SIGNORiQ03468

Names & Taxonomyi

Protein namesi
Recommended name:
DNA excision repair protein ERCC-6 (EC:3.6.4.-)
Alternative name(s):
ATP-dependent helicase ERCC6
Cockayne syndrome protein CSB
Gene namesi
Name:ERCC6
Synonyms:CSB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000225830.10
HostDB:ENSG00000258838.5
HGNCiHGNC:3438 ERCC6
MIMi609413 gene
neXtProtiNX_Q03468

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

Nucleus

Pathology & Biotechi

Involvement in diseasei

Cockayne syndrome B (CSB)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.
See also OMIM:133540
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001218670R → W in CSB. 2 PublicationsCorresponds to variant dbSNP:rs202080674EnsemblClinVar.1
Natural variantiVAR_063511680N → D in CSB. 1 Publication1
Natural variantiVAR_063512686W → C in CSB. 1 PublicationCorresponds to variant dbSNP:rs751292948Ensembl.1
Natural variantiVAR_063513687S → L in CSB. 1 PublicationCorresponds to variant dbSNP:rs1026438103Ensembl.1
Natural variantiVAR_001219851W → R in CSB. 2 PublicationsCorresponds to variant dbSNP:rs368728467EnsemblClinVar.1
Natural variantiVAR_001220957V → G in CSB. 2 Publications1
Natural variantiVAR_0012211042P → L in CSB. 2 Publications1
Cerebro-oculo-facio-skeletal syndrome 1 (COFS1)1 Publication
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:214150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063514871L → P in COFS1. 1 Publication1
Natural variantiVAR_063515987L → P in COFS1. 1 PublicationCorresponds to variant dbSNP:rs121917905EnsemblClinVar.1
De Sanctis-Cacchione syndrome (DSC)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with mental retardation, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset.
See also OMIM:278800
Macular degeneration, age-related, 5 (ARMD5)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
See also OMIM:613761
UV-sensitive syndrome 1 (UVSS1)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.
See also OMIM:600630

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1427 – 1428LL → GG: Fails to bind polyubiquitin chains. 1 Publication2

Keywords - Diseasei

Age-related macular degeneration, Cataract, Cockayne syndrome, Deafness, Disease mutation, Dwarfism, Mental retardation, Xeroderma pigmentosum

Organism-specific databases

DisGeNETi2074
267004
GeneReviewsiERCC6
MalaCardsiERCC6
MIMi133540 phenotype
214150 phenotype
278800 phenotype
600630 phenotype
613761 phenotype
OpenTargetsiENSG00000225830
Orphaneti90321 Cockayne syndrome type 1
90322 Cockayne syndrome type 2
90324 Cockayne syndrome type 3
1466 COFS syndrome
619 NON RARE IN EUROPE: Primary ovarian failure
178338 UV-sensitive syndrome
PharmGKBiPA27852

Polymorphism and mutation databases

BioMutaiERCC6
DMDMi416959

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000743141 – 1493DNA excision repair protein ERCC-6Add BLAST1493

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei158PhosphoserineCombined sources1
Modified residuei170N6-methylated lysine; by EHMT21 Publication1
Cross-linki255Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei297N6-methylated lysine; by EHMT21 Publication1
Modified residuei429PhosphoserineCombined sources1
Modified residuei430PhosphoserineCombined sources1
Modified residuei448N6-methylated lysine; by EHMT21 Publication1
Modified residuei486PhosphoserineCombined sources1
Modified residuei489PhosphoserineCombined sources1
Modified residuei1054N6-methylated lysine; by EHMT21 Publication1
Modified residuei1142PhosphoserineCombined sources1
Modified residuei1348PhosphoserineCombined sources1

Post-translational modificationi

Ubiquitinated at the C-terminus. Ubiquitination by the CSA complex leads to ERCC6 proteasomal degradation in a UV-dependent manner. Stabilized following interaction with KIAA1530/UVSSA, which promotes recruitment of deubiquitinating enzyme USP7, leading to deubiquitination of ERCC6 thereby preventing UV-induced degradation of ERCC6 by the proteasome.5 Publications

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ03468
MaxQBiQ03468
PaxDbiQ03468
PeptideAtlasiQ03468
PRIDEiQ03468
ProteomicsDBi58213

PTM databases

iPTMnetiQ03468
PhosphoSitePlusiQ03468

Expressioni

Gene expression databases

BgeeiENSG00000258838 Expressed in 89 organ(s), highest expression level in leukocyte
CleanExiHS_ERCC6
ExpressionAtlasiQ03468 baseline and differential
GenevisibleiQ03468 HS

Interactioni

Subunit structurei

Homodimer. Binds DNA. Interacts with ERCC8. Interacts with a subunit of RNA polymerase II TFIIH. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Interacts with KIAA1530/UVSSA.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ERCC8Q13216-12EBI-295284,EBI-596556

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108386, 53 interactors
ComplexPortaliCPX-1099 B-WICH chromatin remodelling complex
CORUMiQ03468
DIPiDIP-193N
IntActiQ03468, 19 interactors
MINTiQ03468
STRINGi9606.ENSP00000348089

Structurei

Secondary structure

11493
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ03468
SMRiQ03468
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini519 – 695Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST177
Domaini843 – 1002Helicase C-terminalPROSITE-ProRule annotationAdd BLAST160

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1400 – 1428Ubiquitin-binding domain (UBD)Add BLAST29

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi466 – 481Nuclear localization signalSequence analysisAdd BLAST16
Motifi646 – 649DEGH box4
Motifi1038 – 1055Nuclear localization signalSequence analysisAdd BLAST18

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi356 – 394Asp/Glu-rich (acidic)Add BLAST39
Compositional biasi442 – 446Gly-rich5

Domaini

A C-terminal ubiquitin-binding domain (UBD) is essential for transcription-coupled nucleotide excision repair to proceed.1 Publication

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated

Phylogenomic databases

eggNOGiENOG410IHMN Eukaryota
KOG0387 Eukaryota
ENOG410XP4Z LUCA
ENOG410ZDPG LUCA
GeneTreeiENSGT00590000083118
HOGENOMiHOG000170952
HOVERGENiHBG051502
InParanoidiQ03468
KOiK10841
OMAiQVDSAIH
OrthoDBiEOG091G05IL
PhylomeDBiQ03468
TreeFamiTF101236
TF328011

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform CSB1 Publication (identifier: Q03468-1) [UniParc]FASTAAdd to basket

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
MPNEGIPHSS QTQEQDCLQS QPVSNNEEMA IKQESGGDGE VEEYLSFRSV
60 70 80 90 100
GDGLSTSAVG CASAAPRRGP ALLHIDRHQI QAVEPSAQAL ELQGLGVDVY
110 120 130 140 150
DQDVLEQGVL QQVDNAIHEA SRASQLVDVE KEYRSVLDDL TSCTTSLRQI
160 170 180 190 200
NKIIEQLSPQ AATSRDINRK LDSVKRQKYN KEQQLKKITA KQKHLQAILG
210 220 230 240 250
GAEVKIELDH ASLEEDAEPG PSSLGSMLMP VQETAWEELI RTGQMTPFGT
260 270 280 290 300
QIPQKQEKKP RKIMLNEASG FEKYLADQAK LSFERKKQGC NKRAARKAPA
310 320 330 340 350
PVTPPAPVQN KNKPNKKARV LSKKEERLKK HIKKLQKRAL QFQGKVGLPK
360 370 380 390 400
ARRPWESDMR PEAEGDSEGE ESEYFPTEEE EEEEDDEVEG AEADLSGDGT
410 420 430 440 450
DYELKPLPKG GKRQKKVPVQ EIDDDFFPSS GEEAEAASVG EGGGGGRKVG
460 470 480 490 500
RYRDDGDEDY YKQRLRRWNK LRLQDKEKRL KLEDDSEESD AEFDEGFKVP
510 520 530 540 550
GFLFKKLFKY QQTGVRWLWE LHCQQAGGIL GDEMGLGKTI QIIAFLAGLS
560 570 580 590 600
YSKIRTRGSN YRFEGLGPTV IVCPTTVMHQ WVKEFHTWWP PFRVAILHET
610 620 630 640 650
GSYTHKKEKL IRDVAHCHGI LITSYSYIRL MQDDISRYDW HYVILDEGHK
660 670 680 690 700
IRNPNAAVTL ACKQFRTPHR IILSGSPMQN NLRELWSLFD FIFPGKLGTL
710 720 730 740 750
PVFMEQFSVP ITMGGYSNAS PVQVKTAYKC ACVLRDTINP YLLRRMKSDV
760 770 780 790 800
KMSLSLPDKN EQVLFCRLTD EQHKVYQNFV DSKEVYRILN GEMQIFSGLI
810 820 830 840 850
ALRKICNHPD LFSGGPKNLK GLPDDELEED QFGYWKRSGK MIVVESLLKI
860 870 880 890 900
WHKQGQRVLL FSQSRQMLDI LEVFLRAQKY TYLKMDGTTT IASRQPLITR
910 920 930 940 950
YNEDTSIFVF LLTTRVGGLG VNLTGANRVV IYDPDWNPST DTQARERAWR
960 970 980 990 1000
IGQKKQVTVY RLLTAGTIEE KIYHRQIFKQ FLTNRVLKDP KQRRFFKSND
1010 1020 1030 1040 1050
LYELFTLTSP DASQSTETSA IFAGTGSDVQ TPKCHLKRRI QPAFGADHDV
1060 1070 1080 1090 1100
PKRKKFPASN ISVNDATSSE EKSEAKGAEV NAVTSNRSDP LKDDPHMSSN
1110 1120 1130 1140 1150
VTSNDRLGEE TNAVSGPEEL SVISGNGECS NSSGTGKTSM PSGDESIDEK
1160 1170 1180 1190 1200
LGLSYKRERP SQAQTEAFWE NKQMENNFYK HKSKTKHHSV AEEETLEKHL
1210 1220 1230 1240 1250
RPKQKPKNSK HCRDAKFEGT RIPHLVKKRR YQKQDSENKS EAKEQSNDDY
1260 1270 1280 1290 1300
VLEKLFKKSV GVHSVMKHDA IMDGASPDYV LVEAEANRVA QDALKALRLS
1310 1320 1330 1340 1350
RQRCLGAVSG VPTWTGHRGI SGAPAGKKSR FGKKRNSNFS VQHPSSTSPT
1360 1370 1380 1390 1400
EKCQDGIMKK EGKDNVPEHF SGRAEDADSS SGPLASSSLL AKMRARNHLI
1410 1420 1430 1440 1450
LPERLESESG HLQEASALLP TTEHDDLLVE MRNFIAFQAH TDGQASTREI
1460 1470 1480 1490
LQEFESKLSA SQSCVFRELL RNLCTFHRTS GGEGIWKLKP EYC
Length:1,493
Mass (Da):168,416
Last modified:October 1, 1993 - v1
Checksum:i285257E2AEC071AC
GO
Isoform CSB-PGBD31 Publication (identifier: P0DP91-1) [UniParc] [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry P0DP91.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Produced by an alternative splicing event that joins the first 5 exons of ERCC6 gene in frame to the entire PGBD3 coding region, which is located within ERCC6 intron 5. The resulting chimeric protein consists of the N-terminal 465 residues of ERCC6 tethered to the entire PGBD3 sequence.1 Publication
Length:1,061
Mass (Da):119,487
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6R9X7D6R9X7_HUMAN
DNA excision repair protein ERCC-6
ERCC6
179Annotation score:
A0A096LNQ7A0A096LNQ7_HUMAN
DNA excision repair protein ERCC-6
ERCC6
77Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054153134R → W1 PublicationCorresponds to variant dbSNP:rs148095899EnsemblClinVar.1
Natural variantiVAR_001216255K → T1 Publication1
Natural variantiVAR_001217399G → D2 PublicationsCorresponds to variant dbSNP:rs2228528EnsemblClinVar.1
Natural variantiVAR_016301425D → A1 PublicationCorresponds to variant dbSNP:rs4253046EnsemblClinVar.1
Natural variantiVAR_016302446G → D1 PublicationCorresponds to variant dbSNP:rs4253047EnsemblClinVar.1
Natural variantiVAR_036021591P → A in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036022652R → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_001218670R → W in CSB. 2 PublicationsCorresponds to variant dbSNP:rs202080674EnsemblClinVar.1
Natural variantiVAR_063511680N → D in CSB. 1 Publication1
Natural variantiVAR_063512686W → C in CSB. 1 PublicationCorresponds to variant dbSNP:rs751292948Ensembl.1
Natural variantiVAR_063513687S → L in CSB. 1 PublicationCorresponds to variant dbSNP:rs1026438103Ensembl.1
Natural variantiVAR_001219851W → R in CSB. 2 PublicationsCorresponds to variant dbSNP:rs368728467EnsemblClinVar.1
Natural variantiVAR_063514871L → P in COFS1. 1 Publication1
Natural variantiVAR_016303942T → M1 PublicationCorresponds to variant dbSNP:rs2228525EnsemblClinVar.1
Natural variantiVAR_001220957V → G in CSB. 2 Publications1
Natural variantiVAR_063515987L → P in COFS1. 1 PublicationCorresponds to variant dbSNP:rs121917905EnsemblClinVar.1
Natural variantiVAR_0163041002Y → C1 PublicationCorresponds to variant dbSNP:rs4253206Ensembl.1
Natural variantiVAR_0360231038R → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0012211042P → L in CSB. 2 Publications1
Natural variantiVAR_0012221095P → R3 PublicationsCorresponds to variant dbSNP:rs4253208EnsemblClinVar.1
Natural variantiVAR_0012231097M → V2 PublicationsCorresponds to variant dbSNP:rs2228526EnsemblClinVar.1
Natural variantiVAR_0360241119E → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0360251119E → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0012241213R → G3 PublicationsCorresponds to variant dbSNP:rs2228527EnsemblClinVar.1
Natural variantiVAR_0374361220T → I. Corresponds to variant dbSNP:rs34704611EnsemblClinVar.1
Natural variantiVAR_0163051230R → P1 PublicationCorresponds to variant dbSNP:rs4253211EnsemblClinVar.1
Natural variantiVAR_0163061308V → L1 PublicationCorresponds to variant dbSNP:rs2229761EnsemblClinVar.1
Natural variantiVAR_0163071322G → V1 PublicationCorresponds to variant dbSNP:rs4253219EnsemblClinVar.1
Natural variantiVAR_0374371355D → E. Corresponds to variant dbSNP:rs34917815EnsemblClinVar.1
Natural variantiVAR_0163081372G → R1 PublicationCorresponds to variant dbSNP:rs4253227EnsemblClinVar.1
Natural variantiVAR_0163091382G → R1 PublicationCorresponds to variant dbSNP:rs4253228Ensembl.1
Natural variantiVAR_0163101410G → R1 PublicationCorresponds to variant dbSNP:rs4253229Ensembl.1
Natural variantiVAR_0012251413Q → R2 PublicationsCorresponds to variant dbSNP:rs2228529EnsemblClinVar.1
Natural variantiVAR_0163111441T → I1 PublicationCorresponds to variant dbSNP:rs4253230EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L04791 mRNA Translation: AAA52397.1
AY204752 Genomic DNA Translation: AAO13487.1
AC073366 Genomic DNA No translation available.
AL138760 Genomic DNA No translation available.
CH471187 Genomic DNA Translation: EAW93094.1
CH471187 Genomic DNA Translation: EAW93097.1
CCDSiCCDS7229.1 [Q03468-1]
PIRiA44224
RefSeqiNP_000115.1, NM_000124.3 [Q03468-1]
NP_001333369.1, NM_001346440.1 [Q03468-1]
UniGeneiHs.49063

Genome annotation databases

EnsembliENST00000355832; ENSP00000348089; ENSG00000225830 [Q03468-1]
GeneIDi2074
KEGGihsa:2074
UCSCiuc001jhs.6 human [Q03468-1]
uc001jhu.4 human

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
L04791 mRNA Translation: AAA52397.1
AY204752 Genomic DNA Translation: AAO13487.1
AC073366 Genomic DNA No translation available.
AL138760 Genomic DNA No translation available.
CH471187 Genomic DNA Translation: EAW93094.1
CH471187 Genomic DNA Translation: EAW93097.1
CCDSiCCDS7229.1 [Q03468-1]
PIRiA44224
RefSeqiNP_000115.1, NM_000124.3 [Q03468-1]
NP_001333369.1, NM_001346440.1 [Q03468-1]
UniGeneiHs.49063

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4CVOX-ray1.85A84-160[»]
ProteinModelPortaliQ03468
SMRiQ03468
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108386, 53 interactors
ComplexPortaliCPX-1099 B-WICH chromatin remodelling complex
CORUMiQ03468
DIPiDIP-193N
IntActiQ03468, 19 interactors
MINTiQ03468
STRINGi9606.ENSP00000348089

PTM databases

iPTMnetiQ03468
PhosphoSitePlusiQ03468

Polymorphism and mutation databases

BioMutaiERCC6
DMDMi416959

Proteomic databases

EPDiQ03468
MaxQBiQ03468
PaxDbiQ03468
PeptideAtlasiQ03468
PRIDEiQ03468
ProteomicsDBi58213

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355832; ENSP00000348089; ENSG00000225830 [Q03468-1]
GeneIDi2074
KEGGihsa:2074
UCSCiuc001jhs.6 human [Q03468-1]
uc001jhu.4 human

Organism-specific databases

CTDi2074
DisGeNETi2074
267004
EuPathDBiHostDB:ENSG00000225830.10
HostDB:ENSG00000258838.5
GeneCardsiERCC6
GeneReviewsiERCC6
HGNCiHGNC:3438 ERCC6
MalaCardsiERCC6
MIMi133540 phenotype
214150 phenotype
278800 phenotype
600630 phenotype
609413 gene
613761 phenotype
neXtProtiNX_Q03468
OpenTargetsiENSG00000225830
Orphaneti90321 Cockayne syndrome type 1
90322 Cockayne syndrome type 2
90324 Cockayne syndrome type 3
1466 COFS syndrome
619 NON RARE IN EUROPE: Primary ovarian failure
178338 UV-sensitive syndrome
PharmGKBiPA27852
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHMN Eukaryota
KOG0387 Eukaryota
ENOG410XP4Z LUCA
ENOG410ZDPG LUCA
GeneTreeiENSGT00590000083118
HOGENOMiHOG000170952
HOVERGENiHBG051502
InParanoidiQ03468
KOiK10841
OMAiQVDSAIH
OrthoDBiEOG091G05IL
PhylomeDBiQ03468
TreeFamiTF101236
TF328011

Enzyme and pathway databases

ReactomeiR-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
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-73762 RNA Polymerase I Transcription Initiation
SIGNORiQ03468

Miscellaneous databases

ChiTaRSiERCC6 human
GeneWikiiERCC6
GenomeRNAii101243544
PROiPR:Q03468
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000258838 Expressed in 89 organ(s), highest expression level in leukocyte
CleanExiHS_ERCC6
ExpressionAtlasiQ03468 baseline and differential
GenevisibleiQ03468 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiERCC6_HUMAN
AccessioniPrimary (citable) accession number: Q03468
Secondary accession number(s): D3DX94, E7EV46, Q5W0L9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: November 7, 2018
This is version 201 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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