ERCC6 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0006366Biological processtranscription by RNA polymerase II
GO_0007254Biological processJNK cascade
GO_0033141Biological processpositive regulation of peptidyl-serine phosphorylation of STAT protein
GO_0000012Biological processsingle strand break repair
GO_0032786Biological processpositive regulation of DNA-templated transcription, elongation
GO_0010165Biological processresponse to X-ray
GO_0000303Biological processresponse to superoxide
GO_0010332Biological processresponse to gamma radiation
GO_0031175Biological processneuron projection development
GO_0045739Biological processpositive regulation of DNA repair
GO_2001033Biological processnegative regulation of double-strand break repair via nonhomologous end joining
GO_0045494Biological processphotoreceptor cell maintenance
GO_0006362Biological processtranscription elongation by RNA polymerase I
GO_0010628Biological processpositive regulation of gene expression
GO_0034243Biological processregulation of transcription elongation by RNA polymerase II
GO_0035264Biological processmulticellular organism growth
GO_0006290Biological processpyrimidine dimer repair
GO_0032784Biological processregulation of DNA-templated transcription elongation
GO_0006338Biological processchromatin remodeling
GO_0097680Biological processdouble-strand break repair via classical nonhomologous end joining
GO_0010224Biological processresponse to UV-B
GO_0030182Biological processneuron differentiation
GO_0060261Biological processpositive regulation of transcription initiation by RNA polymerase II
GO_0022008Biological processneurogenesis
GO_0045945Biological processpositive regulation of transcription by RNA polymerase III
GO_0042262Biological processDNA protection
GO_0045943Biological processpositive regulation of transcription by RNA polymerase I
GO_0008630Biological processintrinsic apoptotic signaling pathway in response to DNA damage
GO_1905168Biological processpositive regulation of double-strand break repair via homologous recombination
GO_0009636Biological processresponse to toxic substance
GO_0006284Biological processbase-excision repair
GO_0006979Biological processresponse to oxidative stress
GO_0002230Biological processpositive regulation of defense response to virus by host
GO_0006283Biological processtranscription-coupled nucleotide-excision repair
GO_0045944Biological processpositive regulation of transcription by RNA polymerase II
GO_0000077Biological processDNA damage checkpoint signaling
GO_0005730Cellular componentnucleolus
GO_0008023Cellular componenttranscription elongation factor complex
GO_0110016Cellular componentB-WICH complex
GO_0005654Cellular componentnucleoplasm
GO_0090734Cellular componentsite of DNA damage
GO_0016604Cellular componentnuclear body
GO_0005634Cellular componentnucleus
GO_0003677Molecular functionDNA binding
GO_0043565Molecular functionsequence-specific DNA binding
GO_0003682Molecular functionchromatin binding
GO_0030296Molecular functionprotein tyrosine kinase activator activity
GO_0003678Molecular functionDNA helicase activity
GO_0005524Molecular functionATP binding
GO_0140658Molecular functionATP-dependent chromatin remodeler activity
GO_0008094Molecular functionATP-dependent activity, acting on DNA
GO_0005515Molecular functionprotein binding
GO_0016887Molecular functionATP hydrolysis activity

IV. Literature review

[source]
Gene nameERCC6
Protein nameExcision repair cross-complementing rodent repair deficiency, complementation group 6
Chimeric ERCC6-PGBD3 protein (Chimeric CSB-PGBD3 protein)
DNA excision repair protein ERCC-6 (EC 3.6.4.-) (ATP-dependent helicase ERCC6) (Cockayne syndrome protein CSB)
ERCC excision repair 6, chromatin remodeling factor
SynonymsCSB
DescriptionFUNCTION: Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF. .

FUNCTION: 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 sites of RNA polymerase II-blocking lesions . Plays an important role in regulating the choice of the DNA double-strand breaks (DSBs) repair pathway and G2/M checkpoint activation; DNA-dependent ATPase activity is essential for this function . Regulates the DNA repair pathway choice by inhibiting non-homologous end joining (NHEJ), thereby promoting the homologous recombination (HR)-mediated repair of DSBs during the S/G2 phases of the cell cycle . Mediates the activation of the ATM- and CHEK2-dependent DNA damage responses thus preventing premature entry of cells into mitosis following the induction of DNA DSBs . Acts as a chromatin remodeler at DSBs; DNA-dependent ATPase-dependent activity is essential for this function. Remodels chromatin by evicting histones from chromatin flanking DSBs, limiting RIF1 accumulation at DSBs thereby promoting BRCA1-mediated HR . Required for stable recruitment of ELOA and CUL5 to DNA damage sites . Involved in UV-induced translocation of ERCC8 to the nuclear matrix . Essential for neuronal differentiation and neuritogenesis; regulates transcription and chromatin remodeling activities required during neurogenesis . .

AccessionsENST00000680107.1
ENST00000624341.3
ENST00000355832.10 [Q03468-1]
ENST00000515869.1 [P0DP91-1]
ENST00000681659.1
P0DP91
ENST00000679596.1
A0A7P0TA32
ENST00000462247.1
ENST00000447839.7 [P0DP91-1]
Q03468
A0A7P0T7Y4
A0A096LNQ7
A0JP10
D6R9X7
A0A7P0T9G4