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

ERCC3

protein_coding 2 127,257,285 - 127,294,188 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000163161

Gene type
protein_coding

Chromosome
2

Coordinates
127,257,285 - 127,294,188

Strand
-

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

2071 BTF2 CCDS2144 ENST00000285398.7 NM_000122 NM_000122.2 P19447 RAD25 Ssl2 XPB excision repair cross-complementation group 3 excision repair cross-complementing rodent repair deficiency, complementation group 3 xeroderma pigmentosum group B complementing

Summary

GENCODE gene_type=protein_coding; HGNC symbol=ERCC3; HGNC name=ERCC excision repair 3; alias_count=14; RefSeq=NM_000122; UniProt=P19447; MANE Select=ENST00000285398.7,NM_000122.2

Source: GENCODE + HGNC complete set

2071 • protein-coding

This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

NCBI Gene

UniProt

P19447 • reviewed

ATP-dependent 3'-5' DNA helicase/translocase (PubMed:17466626, PubMed:27193682, PubMed:33902107, PubMed:8465201, PubMed:8663148). Binds dsDNA rather than ssDNA, unzipping it in a translocase rather than classical helicase activity (PubMed:27193682, PubMed:33902107). Component of the general transcription and DNA repair factor IIH (TFIIH) core complex (PubMed:10024882, PubMed:17466626, PubMed:8157004, PubMed:8465201). When complexed to CDK-activating kinase (CAK), involved in RNA transcription by RNA polymerase II. The ATPase activity of XPB/ERCC3, but not its helicase activity, is required for DNA opening; it may wrap around the damaged DNA wedging it open, causing localized melting that allows XPD/ERCC2 helicase to anchor (PubMed:10024882, PubMed:17466626). In transcription, TFIIH has an essential role in transcription initiation (PubMed:30894545, PubMed:8157004). When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape (PubMed:8157004). The ATP-dependent helicase activity of XPB/ERCC3 is required for promoter opening and promoter escape (PubMed:10024882). In transcription pre-initiation complexes induces and propagates a DNA twist to open DNA (PubMed:27193682, PubMed:33902107). Also involved in transcription-coupled nucleotide excision repair (NER) of damaged DNA (PubMed:17466626, PubMed:2111438, PubMed:8157004). In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The structure of the TFIIH transcription complex differs from the NER-TFIIH complex; large movements by XPD/ERCC2 and XPB/ERCC3 are stabilized by XPA (PubMed:31253769, PubMed:33902107). XPA retains XPB/ERCC3 at the 5' end of a DNA bubble (mimicking DNA damage) (PubMed:31253769)

General transcription and DNA repair factor IIH helicase/translocase subunit XPB · Nucleus · EC 5.6.2.4

GO annotations

Biological process

GO:0006281 DNA repair (IMP)
GO:0006265 DNA topological change (IMP)
GO:0006915 apoptotic process (IMP)
GO:0048568 embryonic organ development (IBA)
GO:0035315 hair cell differentiation (IMP)
GO:0035315 hair cell differentiation (IBA)
GO:0008104 intracellular protein localization (IMP)
GO:0006289 nucleotide-excision repair (IEA)
GO:0006289 nucleotide-excision repair (IMP)
GO:0006289 nucleotide-excision repair (IMP)

+ 16 more

Cellular component

GO:0005654 nucleoplasm (IDA)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)
GO:0005654 nucleoplasm (TAS)

+ 68 more

Molecular function

GO:0043138 3'-5' DNA helicase activity (IEA)
GO:0043138 3'-5' DNA helicase activity (IDA)
GO:0043138 3'-5' DNA helicase activity (IMP)
GO:0043138 3'-5' DNA helicase activity (TAS)
GO:0043138 3'-5' DNA helicase activity (TAS)
GO:0043138 3'-5' DNA helicase activity (TAS)
GO:0043138 3'-5' DNA helicase activity (TAS)
GO:0043138 3'-5' DNA helicase activity (IBA)
GO:0005524 ATP binding (IEA)
GO:0016887 ATP hydrolysis activity (IEA)

+ 50 more

Representative

Representative transcript
ENST00000285398

Representative protein
ENSP00000285398.2

Representative type
CCDS

Candidate count
3

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00000647169	ERCC3-220	protein_coding	not available	ENSP00000495619.1	2:127,257,285 - 127,294,188 -
ENST00000890189	ERCC3-222	protein_coding	not available	ENSP00000560248.1	2:127,257,285 - 127,294,188 -
ENST00000890190	ERCC3-223	protein_coding	not available	ENSP00000560249.1	2:127,257,285 - 127,294,188 -
ENST00000918332	ERCC3-224	protein_coding	not available	ENSP00000588391.1	2:127,257,285 - 127,294,188 -
ENST00000918333	ERCC3-225	protein_coding	not available	ENSP00000588392.1	2:127,257,285 - 127,294,188 -
ENST00000918334	ERCC3-226	protein_coding	not available	ENSP00000588393.1	2:127,257,285 - 127,294,188 -
ENST00000958089	ERCC3-227	protein_coding	not available	ENSP00000628148.1	2:127,257,285 - 127,294,188 -
ENST00001145244	ERCC3-242	protein_coding	not available	ENSP00000804590.1	2:127,257,285 - 127,294,188 -
ENST00000285398	ERCC3-201	protein_coding	not available	ENSP00000285398.2	2:127,257,290 - 127,294,144 -
ENST00000426778	ERCC3-202	nonsense_mediated_decay	not available	ENSP00000415335.1	2:127,257,290 - 127,294,145 -
ENST00000646042	ERCC3-218	retained_intron	not available	not available	2:127,257,290 - 127,290,893 -
ENST00001016182	ERCC3-229	nonsense_mediated_decay	not available	ENSP00000685999.1	2:127,257,290 - 127,294,175 -
ENST00001016185	ERCC3-232	nonsense_mediated_decay	not available	ENSP00000686002.1	2:127,257,290 - 127,294,137 -
ENST00001016186	ERCC3-233	nonsense_mediated_decay	not available	ENSP00000686003.1	2:127,257,290 - 127,294,108 -
ENST00001089250	ERCC3-234	nonsense_mediated_decay	not available	ENSP00000759056.1	2:127,257,290 - 127,294,166 -
ENST00001089251	ERCC3-235	nonsense_mediated_decay	not available	ENSP00000759057.1	2:127,257,290 - 127,294,165 -
ENST00001089252	ERCC3-236	nonsense_mediated_decay	not available	ENSP00000759058.1	2:127,257,290 - 127,294,165 -
ENST00001089254	ERCC3-237	nonsense_mediated_decay	not available	ENSP00000759060.1	2:127,257,290 - 127,294,144 -
ENST00000986339	ERCC3-228	nonsense_mediated_decay	not available	ENSP00000656156.1	2:127,257,291 - 127,294,144 -
ENST00001016183	ERCC3-230	nonsense_mediated_decay	not available	ENSP00000686000.1	2:127,257,291 - 127,294,145 -

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.