Human_Genes_Functions
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Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

ERCC6

ERCC6

protein_coding 10 49,454,168 - 49,539,538 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000225830
Gene type
protein_coding
Chromosome
10
Coordinates
49,454,168 - 49,539,538
Strand
-
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

2074 ARMD5 CCDS60529 CCDS7229 CKN2 CSB Cockayne syndrome B protein ENST00000355832.10 NM_000124 NM_000124.4 P0DP91 Q03468 RAD26 excision repair cross-complementation group 6 excision repair cross-complementing rodent repair deficiency, complementation group 6

Summary

GENCODE gene_type=protein_coding; HGNC symbol=ERCC6; HGNC name=ERCC excision repair 6; alias_count=16; RefSeq=NM_000124; UniProt=P0DP91,Q03468; MANE Select=ENST00000355832.10,NM_000124.4

Source: GENCODE + HGNC complete set

2074 • protein-coding

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 formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]

NCBI Gene

UniProt

Q03468 • reviewed

Essential factor involved in transcription-coupled nucleotide excision repair (TC-NER), a process during which RNA polymerase II-blocking lesions are rapidly removed from the transcribed strand of active genes (PubMed:16246722, PubMed:20541997, PubMed:22483866, PubMed:26620705, PubMed:32355176, PubMed:34526721, PubMed:38316879, PubMed:38600235, PubMed:38600236). Plays a central role in the initiation of the TC-NER process: specifically recognizes and binds RNA polymerase II stalled at a lesion, and mediates recruitment of ERCC8/CSA, initiating DNA damage excision by TFIIH recruitment (PubMed:32355176, PubMed:34526721, PubMed:38600235, PubMed:38600236). 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 (PubMed:15548521). Acts as a chromatin remodeler at DSBs; DNA-dependent ATPase-dependent activity is essential for this function (PubMed:16246722, PubMed:9565609). 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 (PubMed:25820262). 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 (PubMed:25820262). 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 (PubMed:25820262). Remodels chromatin by evicting histones from chromatin flanking DSBs, limiting RIF1 accumulation at DSBs thereby promoting BRCA1-mediated HR (PubMed:29203878). Required for stable recruitment of ELOA and CUL5 to DNA damage sites (PubMed:28292928). Also involved in UV-induced translocation of ERCC8 to the nuclear matrix (PubMed:26620705). Essential for neuronal differentiation and neuritogenesis; regulates transcription and chromatin remodeling activities required during neurogenesis (PubMed:24874740)

DNA excision repair protein ERCC-6 · Nucleus; Chromosome

P0DP91 • reviewed

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

Chimeric ERCC6-PGBD3 protein · Nucleus

P0DP91 • reviewed

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

Chimeric ERCC6-PGBD3 protein · Nucleus

GO annotations

Biological process
  • GO:0000077 DNA damage checkpoint signaling (IMP)
  • GO:0042262 DNA protection (IEA)
  • GO:0006281 DNA repair (IEA)
  • GO:0006281 DNA repair (IMP)
  • GO:0006284 base-excision repair (IMP)
  • GO:0006338 chromatin remodeling (NAS)
  • GO:0097680 double-strand break repair via classical nonhomologous end joining (IDA)
  • GO:2001033 negative regulation of double-strand break repair via nonhomologous end joining (IMP)
  • GO:0022008 neurogenesis (IMP)
  • GO:0030182 neuron differentiation (IMP)

+ 30 more

Cellular component
  • GO:0110016 B-WICH complex (IDA)
  • GO:0005694 chromosome (IEA)
  • GO:0005694 chromosome (EXP)
  • GO:0005694 chromosome (EXP)
  • GO:0016604 nuclear body (IDA)
  • GO:0016604 nuclear body (IDA)
  • GO:0005730 nucleolus (IDA)
  • GO:0005730 nucleolus (IDA)
  • GO:0005730 nucleolus (NAS)
  • GO:0005654 nucleoplasm (IDA)

+ 32 more

Molecular function
  • GO:0005524 ATP binding (IEA)
  • GO:0005524 ATP binding (IDA)
  • GO:0005524 ATP binding (IDA)
  • GO:0016887 ATP hydrolysis activity (IEA)
  • GO:0016887 ATP hydrolysis activity (EXP)
  • GO:0016887 ATP hydrolysis activity (EXP)
  • GO:0140664 ATP-dependent DNA damage sensor activity (IDA)
  • GO:0008094 ATP-dependent activity, acting on DNA (IDA)
  • GO:0008094 ATP-dependent activity, acting on DNA (IDA)
  • GO:0008094 ATP-dependent activity, acting on DNA (IMP)

+ 61 more

Representative

Representative transcript
ENST00000681659
Representative protein
ENSP00000505631.1
Representative type
GENCODE_Primary
Candidate count
9

GENCODE Release 50 annotation GTF · transcript.tag=GENCODE_Primary; transcript_support_level=NA

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00000679871 ERCC6-216 protein_coding_CDS_not_defined not available not available 10:49,454,168 - 49,471,580 -
ENST00000679974 ERCC6-217 protein_coding_CDS_not_defined not available not available 10:49,454,168 - 49,471,629 -
ENST00000681632 ERCC6-220 retained_intron not available not available 10:49,454,168 - 49,539,025 -
ENST00000681659 ERCC6-221 protein_coding not available ENSP00000505631.1 10:49,454,168 - 49,539,123 -
ENST00000898255 ERCC6-222 protein_coding not available ENSP00000568314.1 10:49,454,168 - 49,539,123 -
ENST00000898256 ERCC6-223 protein_coding not available ENSP00000568315.1 10:49,454,168 - 49,539,123 -
ENST00001142408 ERCC6-230 protein_coding not available ENSP00000808394.1 10:49,454,168 - 49,539,123 -
ENST00000355832 ERCC6-201 protein_coding not available ENSP00000348089.5 10:49,454,470 - 49,539,121 -
ENST00000624341 ERCC6-212 nonsense_mediated_decay not available ENSP00000485163.1 10:49,455,368 - 49,476,258 -
ENST00000679552 ERCC6-213 retained_intron not available not available 10:49,456,360 - 49,471,651 -
ENST00000623073 ERCC6-208 retained_intron not available not available 10:49,456,655 - 49,506,480 -
ENST00000623115 ERCC6-209 protein_coding_CDS_not_defined not available not available 10:49,458,788 - 49,502,122 -
ENST00000465653 ERCC6-204 protein_coding_CDS_not_defined not available not available 10:49,460,024 - 49,470,281 -
ENST00001115416 ERCC6-228 protein_coding not available ENSP00000785221.1 10:49,482,540 - 49,539,123 -
ENST00000475116 ERCC6-205 protein_coding_CDS_not_defined not available not available 10:49,483,368 - 49,505,999 -
ENST00000623318 ERCC6-210 protein_coding_CDS_not_defined not available not available 10:49,483,386 - 49,502,157 -
ENST00000623788 ERCC6-211 retained_intron not available not available 10:49,500,660 - 49,506,408 -
ENST00000679811 ERCC6-215 retained_intron not available not available 10:49,504,992 - 49,539,030 -
ENST00000985755 ERCC6-224 protein_coding not available ENSP00000655572.1 10:49,513,522 - 49,539,123 -
ENST00000985756 ERCC6-225 protein_coding not available ENSP00000655573.1 10:49,513,529 - 49,539,123 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.