UniProtKB - Q03468 (ERCC6_HUMAN)

>sp|Q03468|ERCC6_HUMAN DNA excision repair protein ERCC-6 OS=Homo sapiens OX=9606 GN=ERCC6 PE=1 SV=1
MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYLSFRSVGDGLSTSAVG
CASAAPRRGPALLHIDRHQIQAVEPSAQALELQGLGVDVYDQDVLEQGVLQQVDNAIHEA
SRASQLVDVEKEYRSVLDDLTSCTTSLRQINKIIEQLSPQAATSRDINRKLDSVKRQKYN
KEQQLKKITAKQKHLQAILGGAEVKIELDHASLEEDAEPGPSSLGSMLMPVQETAWEELI
RTGQMTPFGTQIPQKQEKKPRKIMLNEASGFEKYLADQAKLSFERKKQGCNKRAARKAPA
PVTPPAPVQNKNKPNKKARVLSKKEERLKKHIKKLQKRALQFQGKVGLPKARRPWESDMR
PEAEGDSEGEESEYFPTEEEEEEEDDEVEGAEADLSGDGTDYELKPLPKGGKRQKKVPVQ
EIDDDFFPSSGEEAEAASVGEGGGGGRKVGRYRDDGDEDYYKQRLRRWNKLRLQDKEKRL
KLEDDSEESDAEFDEGFKVPGFLFKKLFKYQQTGVRWLWELHCQQAGGILGDEMGLGKTI
QIIAFLAGLSYSKIRTRGSNYRFEGLGPTVIVCPTTVMHQWVKEFHTWWPPFRVAILHET
GSYTHKKEKLIRDVAHCHGILITSYSYIRLMQDDISRYDWHYVILDEGHKIRNPNAAVTL
ACKQFRTPHRIILSGSPMQNNLRELWSLFDFIFPGKLGTLPVFMEQFSVPITMGGYSNAS
PVQVKTAYKCACVLRDTINPYLLRRMKSDVKMSLSLPDKNEQVLFCRLTDEQHKVYQNFV
DSKEVYRILNGEMQIFSGLIALRKICNHPDLFSGGPKNLKGLPDDELEEDQFGYWKRSGK
MIVVESLLKIWHKQGQRVLLFSQSRQMLDILEVFLRAQKYTYLKMDGTTTIASRQPLITR
YNEDTSIFVFLLTTRVGGLGVNLTGANRVVIYDPDWNPSTDTQARERAWRIGQKKQVTVY
RLLTAGTIEEKIYHRQIFKQFLTNRVLKDPKQRRFFKSNDLYELFTLTSPDASQSTETSA
IFAGTGSDVQTPKCHLKRRIQPAFGADHDVPKRKKFPASNISVNDATSSEEKSEAKGAEV
NAVTSNRSDPLKDDPHMSSNVTSNDRLGEETNAVSGPEELSVISGNGECSNSSGTGKTSM
PSGDESIDEKLGLSYKRERPSQAQTEAFWENKQMENNFYKHKSKTKHHSVAEEETLEKHL
RPKQKPKNSKHCRDAKFEGTRIPHLVKKRRYQKQDSENKSEAKEQSNDDYVLEKLFKKSV
GVHSVMKHDAIMDGASPDYVLVEAEANRVAQDALKALRLSRQRCLGAVSGVPTWTGHRGI
SGAPAGKKSRFGKKRNSNFSVQHPSSTSPTEKCQDGIMKKEGKDNVPEHFSGRAEDADSS
SGPLASSSLLAKMRARNHLILPERLESESGHLQEASALLPTTEHDDLLVEMRNFIAFQAH
TDGQASTREILQEFESKLSASQSCVFRELLRNLCTFHRTSGGEGIWKLKPEYC

Entry version 208 (18 Sep 2019)
Sequence version 1 (01 Oct 1993)
Previous versions | rss

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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 key	Position(s)	DescriptionActions	Graphical view	Length
Nucleotide bindingⁱ	532 – 539	ATPPROSITE-ProRule annotation		8

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	DNA-binding, Helicase, Hydrolase
Biological process	DNA damage, DNA repair, Transcription, Transcription regulation
Ligand	ATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactomeⁱ	R-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
SIGNORⁱ	Q03468

Reactomeⁱ

R-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

SIGNORⁱ

Q03468

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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:3438 ERCC6
MIMⁱ	609413 gene
neXtProtⁱ	NX_Q03468

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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_001218	670	R → W in CSB. 2 PublicationsCorresponds to variant dbSNP:rs202080674EnsemblClinVar.	1
Natural variantⁱVAR_063511	680	N → D in CSB. 1 PublicationCorresponds to variant dbSNP:rs1554788393EnsemblClinVar.	1
Natural variantⁱVAR_063512	686	W → C in CSB. 1 PublicationCorresponds to variant dbSNP:rs751292948Ensembl.	1
Natural variantⁱVAR_063513	687	S → L in CSB. 1 PublicationCorresponds to variant dbSNP:rs1026438103EnsemblClinVar.	1
Natural variantⁱVAR_001219	851	W → R in CSB. 2 PublicationsCorresponds to variant dbSNP:rs368728467EnsemblClinVar.	1
Natural variantⁱVAR_001220	957	V → G in CSB. 2 Publications	1
Natural variantⁱVAR_001221	1042	P → L in CSB. 2 Publications	1

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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_063514	871	L → P in COFS1. 1 Publication		1
Natural variantⁱVAR_063515	987	L → 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.

Related information in OMIM

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.

Related information in OMIM

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.

Related information in OMIM

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	1427 – 1428	LL → GG: Fails to bind polyubiquitin chains. 1 Publication		2

Keywords - Diseaseⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2074
GeneReviewsⁱ	ERCC6
MalaCards human disease database More...MalaCardsⁱ	ERCC6
MIMⁱ	133540 phenotype 214150 phenotype 278800 phenotype 600630 phenotype 613761 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000225830
Orphanetⁱ	90321 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
PharmGKBⁱ	PA27852

Polymorphism and mutation databases

BioMutaⁱ	ERCC6
DMDMⁱ	416959

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000074314	1 – 1493	DNA excision repair protein ERCC-6Add BLAST		1493

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	158	PhosphoserineCombined sources	1
Modified residueⁱ	170	N6-methylated lysine; by EHMT21 Publication	1
Cross-linkⁱ	255	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residueⁱ	297	N6-methylated lysine; by EHMT21 Publication	1
Modified residueⁱ	429	PhosphoserineCombined sources	1
Modified residueⁱ	430	PhosphoserineCombined sources	1
Modified residueⁱ	448	N6-methylated lysine; by EHMT21 Publication	1
Modified residueⁱ	486	PhosphoserineCombined sources	1
Modified residueⁱ	489	PhosphoserineCombined sources	1
Modified residueⁱ	1054	N6-methylated lysine; by EHMT21 Publication	1
Modified residueⁱ	1142	PhosphoserineCombined sources	1
Modified residueⁱ	1348	PhosphoserineCombined sources	1

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

EPDⁱ	Q03468
jPOSTⁱ	Q03468
MassIVEⁱ	Q03468
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q03468
PaxDbⁱ	Q03468
PeptideAtlas More...PeptideAtlasⁱ	Q03468
PRIDEⁱ	Q03468
ProteomicsDBⁱ	18566 58213

PTM databases

iPTMnetⁱ	Q03468
PhosphoSitePlusⁱ	Q03468

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000258838 Expressed in 89 organ(s), highest expression level in leukocyte
ExpressionAtlasⁱ	Q03468 baseline and differential
Genevisibleⁱ	Q03468 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

With	Entry	#Exp.	IntAct	Notes
ABL1	P00519	8	EBI-295284,EBI-375543
ERCC8	Q13216-1	2	EBI-295284,EBI-596556

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108386, 60 interactors
ComplexPortalⁱ	CPX-1099 B-WICH chromatin remodelling complex
CORUMⁱ	Q03468
Database of interacting proteins More...DIPⁱ	DIP-193N
IntActⁱ	Q03468, 24 interactors
Molecular INTeraction database More...MINTⁱ	Q03468
STRINGⁱ	9606.ENSP00000348089

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	93 – 96	Combined sources	4
Helixⁱ	102 – 104	Combined sources	3
Helixⁱ	109 – 155	Combined sources	47

Show more details

3D structure databases

SMRⁱ	Q03468
ModBaseⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	519 – 695	Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST		177
Domainⁱ	843 – 1002	Helicase C-terminalPROSITE-ProRule annotationAdd BLAST		160

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	1400 – 1428	Ubiquitin-binding domain (UBD)Add BLAST		29

Motif

Feature key	Position(s)	DescriptionActions	Length
Motifⁱ	466 – 481	Nuclear localization signalSequence analysisAdd BLAST	16
Motifⁱ	646 – 649	DEGH box	4
Motifⁱ	1038 – 1055	Nuclear localization signalSequence analysisAdd BLAST	18

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	356 – 394	Asp/Glu-rich (acidic)Add BLAST		39
Compositional biasⁱ	442 – 446	Gly-rich		5

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

eggNOGⁱ	ENOG410IHMN Eukaryota KOG0387 Eukaryota ENOG410XP4Z LUCA ENOG410ZDPG LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000158057
HOGENOMⁱ	HOG000170952
InParanoidⁱ	Q03468
KEGG Orthology (KO) More...KOⁱ	K10841
OMAⁱ	QVDSAIH
Database of Orthologous Groups More...OrthoDBⁱ	1227195at2759
PhylomeDBⁱ	Q03468
TreeFamⁱ	TF101236 TF328011

Family and domain databases

Gene3Dⁱ	3.40.50.10810, 1 hit
InterProⁱ	View protein in InterPro IPR014001 Helicase_ATP-bd IPR001650 Helicase_C IPR027417 P-loop_NTPase IPR038718 SNF2-like_sf IPR000330 SNF2_N
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00271 Helicase_C, 1 hit PF00176 SNF2_N, 1 hit
SMARTⁱ	View protein in SMART SM00487 DEXDc, 1 hit SM00490 HELICc, 1 hit
SUPFAMⁱ	SSF52540 SSF52540, 2 hits
PROSITEⁱ	View 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. Align Add to basket

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

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

This isoform has been chosen as the 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.

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        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

Isoform CSB-PGBD31 Publication (identifier: P0DP91-1) [UniParc] [UniParc]FASTA Add 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

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

D6R9X7	D6R9X7_HUMAN	DNA excision repair protein ERCC-6 DNA excision repair protein ERCC-6	ERCC6	179	Annotation score:
A0A096LNQ7	A0A096LNQ7_HUMAN	DNA excision repair protein ERCC-6 DNA excision repair protein ERCC-6	ERCC6	77	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_054153	134	R → W1 PublicationCorresponds to variant dbSNP:rs148095899EnsemblClinVar.	1
Natural variantⁱVAR_001216	255	K → T1 Publication	1
Natural variantⁱVAR_001217	399	G → D2 PublicationsCorresponds to variant dbSNP:rs2228528EnsemblClinVar.	1
Natural variantⁱVAR_016301	425	D → A1 PublicationCorresponds to variant dbSNP:rs4253046EnsemblClinVar.	1
Natural variantⁱVAR_016302	446	G → D1 PublicationCorresponds to variant dbSNP:rs4253047EnsemblClinVar.	1
Natural variantⁱVAR_036021	591	P → A in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1184760254Ensembl.	1
Natural variantⁱVAR_036022	652	R → L in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1365187961Ensembl.	1
Natural variantⁱVAR_001218	670	R → W in CSB. 2 PublicationsCorresponds to variant dbSNP:rs202080674EnsemblClinVar.	1
Natural variantⁱVAR_063511	680	N → D in CSB. 1 PublicationCorresponds to variant dbSNP:rs1554788393EnsemblClinVar.	1
Natural variantⁱVAR_063512	686	W → C in CSB. 1 PublicationCorresponds to variant dbSNP:rs751292948Ensembl.	1
Natural variantⁱVAR_063513	687	S → L in CSB. 1 PublicationCorresponds to variant dbSNP:rs1026438103EnsemblClinVar.	1
Natural variantⁱVAR_001219	851	W → R in CSB. 2 PublicationsCorresponds to variant dbSNP:rs368728467EnsemblClinVar.	1
Natural variantⁱVAR_063514	871	L → P in COFS1. 1 Publication	1
Natural variantⁱVAR_016303	942	T → M1 PublicationCorresponds to variant dbSNP:rs2228525EnsemblClinVar.	1
Natural variantⁱVAR_001220	957	V → G in CSB. 2 Publications	1
Natural variantⁱVAR_063515	987	L → P in COFS1. 1 PublicationCorresponds to variant dbSNP:rs121917905EnsemblClinVar.	1
Natural variantⁱVAR_016304	1002	Y → C1 PublicationCorresponds to variant dbSNP:rs4253206Ensembl.	1
Natural variantⁱVAR_036023	1038	R → T in a breast cancer sample; somatic mutation. 1 Publication	1
Natural variantⁱVAR_001221	1042	P → L in CSB. 2 Publications	1
Natural variantⁱVAR_001222	1095	P → R3 PublicationsCorresponds to variant dbSNP:rs4253208EnsemblClinVar.	1
Natural variantⁱVAR_001223	1097	M → V2 PublicationsCorresponds to variant dbSNP:rs2228526EnsemblClinVar.	1
Natural variantⁱVAR_036024	1119	E → Q in a breast cancer sample; somatic mutation. 1 Publication	1
Natural variantⁱVAR_036025	1119	E → V in a breast cancer sample; somatic mutation. 1 Publication	1
Natural variantⁱVAR_001224	1213	R → G3 PublicationsCorresponds to variant dbSNP:rs2228527EnsemblClinVar.	1
Natural variantⁱVAR_037436	1220	T → I. Corresponds to variant dbSNP:rs34704611EnsemblClinVar.	1
Natural variantⁱVAR_016305	1230	R → P1 PublicationCorresponds to variant dbSNP:rs4253211EnsemblClinVar.	1
Natural variantⁱVAR_016306	1308	V → L1 PublicationCorresponds to variant dbSNP:rs2229761EnsemblClinVar.	1
Natural variantⁱVAR_016307	1322	G → V1 PublicationCorresponds to variant dbSNP:rs4253219EnsemblClinVar.	1
Natural variantⁱVAR_037437	1355	D → E. Corresponds to variant dbSNP:rs34917815EnsemblClinVar.	1
Natural variantⁱVAR_016308	1372	G → R1 PublicationCorresponds to variant dbSNP:rs4253227EnsemblClinVar.	1
Natural variantⁱVAR_016309	1382	G → R1 PublicationCorresponds to variant dbSNP:rs4253228Ensembl.	1
Natural variantⁱVAR_016310	1410	G → R1 PublicationCorresponds to variant dbSNP:rs4253229Ensembl.	1
Natural variantⁱVAR_001225	1413	Q → R2 PublicationsCorresponds to variant dbSNP:rs2228529EnsemblClinVar.	1
Natural variantⁱVAR_016311	1441	T → 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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS7229.1 [Q03468-1]
PIRⁱ	A44224
NCBI Reference Sequences More...RefSeqⁱ	NP_000115.1, NM_000124.3 [Q03468-1] NP_001333369.1, NM_001346440.1 [Q03468-1]

Genome annotation databases

Ensemblⁱ	ENST00000355832; ENSP00000348089; ENSG00000225830 [Q03468-1]
GeneIDⁱ	2074
KEGGⁱ	hsa:2074
UCSC genome browser More...UCSCⁱ	uc001jhs.6 human [Q03468-1] uc001jhu.4 human

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q03468	DNA excision repair protein ERCC-6 (Fragment)		HUMAN		179	UniRef100_Q03468

Protein	Similar proteins		Species	Score	Length	Source
Q03468	DNA excision repair protein ERCC-6 (Fragment)		HUMAN		179	UniRef90_Q03468
ERCC excision repair 6, chromatin remodeling factor		GORGO		1493
Excision repair cross-complementing rodent repair deficiency, complementation group 6		HUMAN		1493

Protein	Similar proteins		Species	Score	Length	Source
Q03468	DNA excision repair protein ERCC-6 (Fragment)		HUMAN		179	UniRef50_Q03468
ERCC excision repair 6, chromatin remodeling factor		GORGO		1493
DNA excision repair protein ERCC-6		CHEMY		1441
ERCC excision repair 6, chromatin remodeling factor		Agassiz's desert tortoise		1372
DNA excision repair protein ERCC-6		Patagioenas fasciata monilis		1554
+229

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
CCDSⁱ	CCDS7229.1 [Q03468-1]
PIRⁱ	A44224
RefSeqⁱ	NP_000115.1, NM_000124.3 [Q03468-1] NP_001333369.1, NM_001346440.1 [Q03468-1]

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 entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	4CVO	X-ray	1.85	A	84-160	[»]
SMRⁱ	Q03468
ModBaseⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108386, 60 interactors
ComplexPortalⁱ	CPX-1099 B-WICH chromatin remodelling complex
CORUMⁱ	Q03468
DIPⁱ	DIP-193N
IntActⁱ	Q03468, 24 interactors
MINTⁱ	Q03468
STRINGⁱ	9606.ENSP00000348089

PTM databases

iPTMnetⁱ	Q03468
PhosphoSitePlusⁱ	Q03468

Polymorphism and mutation databases

BioMutaⁱ	ERCC6
DMDMⁱ	416959

Proteomic databases

EPDⁱ	Q03468
jPOSTⁱ	Q03468
MassIVEⁱ	Q03468
MaxQBⁱ	Q03468
PaxDbⁱ	Q03468
PeptideAtlasⁱ	Q03468
PRIDEⁱ	Q03468
ProteomicsDBⁱ	18566 58213

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000355832; ENSP00000348089; ENSG00000225830 [Q03468-1]
GeneIDⁱ	2074
KEGGⁱ	hsa:2074
UCSCⁱ	uc001jhs.6 human [Q03468-1] uc001jhu.4 human

Organism-specific databases

CTDⁱ	2074
DisGeNETⁱ	2074
GeneCardsⁱ	ERCC6
GeneReviewsⁱ	ERCC6
HGNCⁱ	HGNC:3438 ERCC6
MalaCardsⁱ	ERCC6
MIMⁱ	133540 phenotype 214150 phenotype 278800 phenotype 600630 phenotype 609413 gene 613761 phenotype
neXtProtⁱ	NX_Q03468
OpenTargetsⁱ	ENSG00000225830
Orphanetⁱ	90321 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
PharmGKBⁱ	PA27852
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IHMN Eukaryota KOG0387 Eukaryota ENOG410XP4Z LUCA ENOG410ZDPG LUCA
GeneTreeⁱ	ENSGT00940000158057
HOGENOMⁱ	HOG000170952
InParanoidⁱ	Q03468
KOⁱ	K10841
OMAⁱ	QVDSAIH
OrthoDBⁱ	1227195at2759
PhylomeDBⁱ	Q03468
TreeFamⁱ	TF101236 TF328011

Enzyme and pathway databases

Reactomeⁱ	R-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
SIGNORⁱ	Q03468

Reactomeⁱ

SIGNORⁱ

Q03468

Miscellaneous databases

ChiTaRSⁱ	ERCC6 human
GeneWikiⁱ	ERCC6
GenomeRNAiⁱ	2074
Pharos More...Pharosⁱ	Q03468
Protein Ontology More...PROⁱ	PR:Q03468
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000258838 Expressed in 89 organ(s), highest expression level in leukocyte
ExpressionAtlasⁱ	Q03468 baseline and differential
Genevisibleⁱ	Q03468 HS

Family and domain databases

Gene3Dⁱ	3.40.50.10810, 1 hit
InterProⁱ	View protein in InterPro IPR014001 Helicase_ATP-bd IPR001650 Helicase_C IPR027417 P-loop_NTPase IPR038718 SNF2-like_sf IPR000330 SNF2_N
Pfamⁱ	View protein in Pfam PF00271 Helicase_C, 1 hit PF00176 SNF2_N, 1 hit
SMARTⁱ	View protein in SMART SM00487 DEXDc, 1 hit SM00490 HELICc, 1 hit
SUPFAMⁱ	SSF52540 SSF52540, 2 hits
PROSITEⁱ	View protein in PROSITE PS51192 HELICASE_ATP_BIND_1, 1 hit PS51194 HELICASE_CTER, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	ERCC6_HUMAN
Accessionⁱ	Q03468Primary (citable) accession number: Q03468 Secondary accession number(s): D3DX94, E7EV46, Q5W0L9
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 1, 1993
	Last sequence update:	October 1, 1993
	Last modified:	September 18, 2019
	This is version 208 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 proteome

Documents

PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families
Human chromosome 10
Human chromosome 10: 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
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations

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UniProtKB - Q03468 (ERCC6_HUMAN)

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DNA excision repair protein ERCC-6

ERCC6

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<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

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GO - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

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Keywords - Cellular componenti

<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

De Sanctis-Cacchione syndrome (DSC)

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

<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

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Protein-protein interaction databases

<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

3D structure databases

<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

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Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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_references_section">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

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ