• Gene id: 2074

Gene Summary

• Gene Symbol: ERCC6   Gene   UCSC   Ensembl
• Aliases: ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1
• Gene name: ERCC excision repair 6, chromatin remodeling factor
• Alternate names: DNA excision repair protein ERCC-6, ERCC6-PGBD3 fusion protein, ATP-dependent helicase ERCC6, Chimeric CSB-PGBD3 protein, Chimeric ERCC6-PGBD3 protein, Cockayne syndrome group B protein, cockayne syndrome protein CSB, excision repair cross-complementation group ,
• Gene location: 10q11.23 (11022619: 11021618)     Exons: 1     NC_000012.12
• Gene summary(Entrez): This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formatio
• OMIM: 609413

Protein Summary

• Protein general information: P0DP91  
  • Name: Chimeric ERCC6 PGBD3 protein (Chimeric CSB PGBD3 protein)
  • Length: 1061  
  • Mass: 119487
  • Tissue specificity: Expressed in heart and oocytes, but not in granulosa cells (at protein level). {ECO
• Sequence:

  MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYLSFRSVGDGLSTSAVGCASAAPRRGPALLHI
  DRHQIQAVEPSAQALELQGLGVDVYDQDVLEQGVLQQVDNAIHEASRASQLVDVEKEYRSVLDDLTSCTTSLRQI
  NKIIEQLSPQAATSRDINRKLDSVKRQKYNKEQQLKKITAKQKHLQAILGGAEVKIELDHASLEEDAEPGPSSLG
  SMLMPVQETAWEELIRTGQMTPFGTQIPQKQEKKPRKIMLNEASGFEKYLADQAKLSFERKKQGCNKRAARKAPA
  PVTPPAPVQNKNKPNKKARVLSKKEERLKKHIKKLQKRALQFQGKVGLPKARRPWESDMRPEAEGDSEGEESEYF
  PTEEEEEEEDDEVEGAEADLSGDGTDYELKPLPKGGKRQKKVPVQEIDDDFFPSSGEEAEAASVGEGGGGGRKVG
  RYRDDGDEDYYKQRLSPKMPRTLSLHEITDLLETDDSIEASAIVIQPPENATAPVSDEESGDEEGGTINNLPGSL
  LHTAAYLIQDGSDAESDSDDPSYAPKDDSPDEVPSTFTVQQPPPSRRRKMTKILCKWKKADLTVQPVAGRVTAPP
  NDFFTVMRTPTEILELFLDDEVIELIVKYSNLYACSKGVHLGLTSSEFKCFLGIIFLSGYVSVPRRRMFWEQRTD
  VHNVLVSAAMRRDRFETIFSNLHVADNANLDPVDKFSKLRPLISKLNERCMKFVPNETYFSFDEFMVPYFGRHGC
  KQFIRGKPIRFGYKFWCGATCLGYICWFQPYQGKNPNTKHEEYGVGASLVLQFSEALTEAHPGQYHFVFNNFFTS
  IALLDKLSSMGHQATGTVRKDHIDRVPLESDVALKKKERGTFDYRIDGKGNIVCRWNDNSVVTVASSGAGIHPLC
  LVSRYSQKLKKKIQVQQPNMIKVYNQFMGGVDRADENIDKYRASIRGKKWYSSPLLFCFELVLQNAWQLHKTYDE
  KPVDFLEFRRRVVCHYLETHGHPPEPGQKGRPQKRNIDSRYDGINHVIVKQGKQTRCAECHKNTTFRCEKCDVAL
  HVKCSVEYHTE

• Structural information:
  • Interpro: IPR029526  
  • STRING: ENSP00000423550
• Other Databases: GeneCards:  ERCC6  Malacards:  ERCC6
• Protein general information: Q03468  
  
  Name: DNA excision repair protein ERCC 6 (EC 3.6.4. ) (ATP dependent helicase ERCC6) (Cockayne syndrome protein CSB)
  
  Length: 1493  Mass: 168416
• Sequence: MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYLSFRSVGDGLSTSAVGCASAAPRRGPALLHI
  DRHQIQAVEPSAQALELQGLGVDVYDQDVLEQGVLQQVDNAIHEASRASQLVDVEKEYRSVLDDLTSCTTSLRQI
  NKIIEQLSPQAATSRDINRKLDSVKRQKYNKEQQLKKITAKQKHLQAILGGAEVKIELDHASLEEDAEPGPSSLG
  SMLMPVQETAWEELIRTGQMTPFGTQIPQKQEKKPRKIMLNEASGFEKYLADQAKLSFERKKQGCNKRAARKAPA
  PVTPPAPVQNKNKPNKKARVLSKKEERLKKHIKKLQKRALQFQGKVGLPKARRPWESDMRPEAEGDSEGEESEYF
  PTEEEEEEEDDEVEGAEADLSGDGTDYELKPLPKGGKRQKKVPVQEIDDDFFPSSGEEAEAASVGEGGGGGRKVG
  RYRDDGDEDYYKQRLRRWNKLRLQDKEKRLKLEDDSEESDAEFDEGFKVPGFLFKKLFKYQQTGVRWLWELHCQQ
  AGGILGDEMGLGKTIQIIAFLAGLSYSKIRTRGSNYRFEGLGPTVIVCPTTVMHQWVKEFHTWWPPFRVAILHET
  GSYTHKKEKLIRDVAHCHGILITSYSYIRLMQDDISRYDWHYVILDEGHKIRNPNAAVTLACKQFRTPHRIILSG
  SPMQNNLRELWSLFDFIFPGKLGTLPVFMEQFSVPITMGGYSNASPVQVKTAYKCACVLRDTINPYLLRRMKSDV
  KMSLSLPDKNEQVLFCRLTDEQHKVYQNFVDSKEVYRILNGEMQIFSGLIALRKICNHPDLFSGGPKNLKGLPDD
  ELEEDQFGYWKRSGKMIVVESLLKIWHKQGQRVLLFSQSRQMLDILEVFLRAQKYTYLKMDGTTTIASRQPLITR
  YNEDTSIFVFLLTTRVGGLGVNLTGANRVVIYDPDWNPSTDTQARERAWRIGQKKQVTVYRLLTAGTIEEKIYHR
  QIFKQFLTNRVLKDPKQRRFFKSNDLYELFTLTSPDASQSTETSAIFAGTGSDVQTPKCHLKRRIQPAFGADHDV
  PKRKKFPASNISVNDATSSEEKSEAKGAEVNAVTSNRSDPLKDDPHMSSNVTSNDRLGEETNAVSGPEELSVISG
  NGECSNSSGTGKTSMPSGDESIDEKLGLSYKRERPSQAQTEAFWENKQMENNFYKHKSKTKHHSVAEEETLEKHL
  RPKQKPKNSKHCRDAKFEGTRIPHLVKKRRYQKQDSENKSEAKEQSNDDYVLEKLFKKSVGVHSVMKHDAIMDGA
  SPDYVLVEAEANRVAQDALKALRLSRQRCLGAVSGVPTWTGHRGISGAPAGKKSRFGKKRNSNFSVQHPSSTSPT
  EKCQDGIMKKEGKDNVPEHFSGRAEDADSSSGPLASSSLLAKMRARNHLILPERLESESGHLQEASALLPTTEHD
  DLLVEMRNFIAFQAHTDGQASTREILQEFESKLSASQSCVFRELLRNLCTFHRTSGGEGIWKLKPEYC
• Structural information:

  Protein Domains	(519..69-) (/note="Helicase-ATP-binding) (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-) (843..100-) (/note="Helicase-C-terminal) (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  Interpro:	IPR014001  IPR001650  IPR027417  IPR038718  IPR000330
  Prosite:	PS51192 PS51194
  PDB:	4CVO
  PDBsum:	4CVO
  DIP:	193
  MINT:
  STRING:	ENSP00000348089

• Other Databases: GeneCards:  ERCC6  Malacards:  ERCC6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008094	DNA-dependent ATPase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006283	transcription-coupled nucleotide-excision repair	IBA	biological process
GO:0090734	site of DNA damage	IDA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0000012	single strand break repair	IDA	biological process
GO:0097680	double-strand break repair via classical nonhomologous end joining	IDA	biological process
GO:0000077	DNA damage checkpoint	IMP	biological process
GO:0008094	DNA-dependent ATPase activity	IMP	molecular function
GO:0003682	chromatin binding	IMP	molecular function
GO:1905168	positive regulation of double-strand break repair via homologous recombination	IMP	biological process
GO:0031175	neuron projection development	IMP	biological process
GO:0022008	neurogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006283	transcription-coupled nucleotide-excision repair	IMP	biological process
GO:0043044	ATP-dependent chromatin remodeling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2001033	negative regulation of double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030182	neuron differentiation	IMP	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0030296	protein tyrosine kinase activator activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0006979	response to oxidative stress	IGI	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0045815	positive regulation of gene expression, epigenetic	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0010332	response to gamma radiation	IEA	biological process
GO:0010165	response to X-ray	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0007257	activation of JUN kinase activity	IEA	biological process
GO:0007256	activation of JNKK activity	IEA	biological process
GO:0006362	transcription elongation from RNA polymerase I promoter	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0000303	response to superoxide	IEA	biological process
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0010224	response to UV-B	IEA	biological process
GO:0009411	response to UV	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006290	pyrimidine dimer repair	IEA	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0061098	positive regulation of protein tyrosine kinase activity	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032784	regulation of DNA-templated transcription, elongation	IDA	biological process
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0032786	positive regulation of DNA-templated transcription, elongation	IDA	biological process
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0008023	transcription elongation factor complex	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0003678	DNA helicase activity	IDA	NOT|molecular function
GO:0009411	response to UV	IDA	biological process
GO:0006979	response to oxidative stress	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0006366	transcription by RNA polymerase II	NAS	biological process
GO:0006284	base-excision repair	IMP	biological process
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0006283	transcription-coupled nucleotide-excision repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045739	positive regulation of DNA repair	IGI	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0006283	transcription-coupled nucleotide-excision repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045739	positive regulation of DNA repair	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa03420	Nucleotide excision repair

Diseases

Associated diseases	References
Age-related macular degeneration	KEGG:H00821
Disorders of nucleotide excision repair	KEGG:H00403
Premature ovarian failure	KEGG:H00627
Cockayne syndrome	KEGG:H00076
Age-related macular degeneration	KEGG:H00821
Disorders of nucleotide excision repair	KEGG:H00403
Premature ovarian failure	KEGG:H00627
UV-sensitive syndrome	KEGG:H02131
Cockayne syndrome	KEGG:H00076
lung cancer	PMID:17855454
lung cancer	PMID:17854076
Cockayne syndrome	PMID:23599700
Macular degeneration	PMID:21072178
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray