ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: ERCC3provided by HGNC
Official Full Name: ERCC excision repair 3, TFIIH core complex helicase subunitprovided by HGNC
Primary source: HGNC:HGNC:3435
See related: Ensembl:ENSG00000163161 MIM:133510; AllianceGenome:HGNC:3435
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: XPB; BTF2; Ssl2; TTD2; GTF2H; RAD25; TFIIH
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 20.2), lymph node (RPKM 14.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q14.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (127257290..127294144, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (127692506..127729368, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (128014866..128051720, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Comprehensive analysis of ERCC3 prognosis value and ceRNA network in AML.
Title: Comprehensive analysis of ERCC3 prognosis value and ceRNA network in AML.
Differential dependencies of human RNA polymerase II promoters on TBP, TAF1, TFIIB and XPB.
Title: Differential dependencies of human RNA polymerase II promoters on TBP, TAF1, TFIIB and XPB.
Spironolactone-induced XPB degradation requires TFIIH integrity and ubiquitin-selective segregase VCP/p97.
Title: Spironolactone-induced XPB degradation requires TFIIH integrity and ubiquitin-selective segregase VCP/p97.
Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
Title: Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
MAP9/ERCC3 signaling cascade: A new insight on understanding the chromosomal instability in hepatocellular carcinoma.
Title: MAP9/ERCC3 signaling cascade: A new insight on understanding the chromosomal instability in hepatocellular carcinoma.
ERCC3, a new ovarian cancer susceptibility gene?
Title: ERCC3, a new ovarian cancer susceptibility gene?
Microtubule associated protein 9 inhibits liver tumorigenesis by suppressing ERCC3.
Title: Microtubule associated protein 9 inhibits liver tumorigenesis by suppressing ERCC3.
Epstein-Barr virus co-opts TFIIH component XPB to specifically activate essential viral lytic promoters.
Title: Epstein-Barr virus co-opts TFIIH component XPB to specifically activate essential viral lytic promoters.
Reduced mRNA expression levels of XPB were associated with an increased risk of the head and neck squamous cell carcinomas in a Chinese population.
Title: Associations between expression levels of nine core nucleotide excision repair genes in lymphocytes and risk of head and neck squamous cell carcinomas in a Chinese population.
Spironolactone-induced degradation of the TFIIH core complex XPB subunit suppresses NF-kappaB and AP-1 signalling, preventing inflammation in pulmonary hypertension.
Title: Spironolactone-induced degradation of the TFIIH core complex XPB subunit suppresses NF-κB and AP-1 signalling.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Trichothiodystrophy 2, photosensitive MedGen: C4225344 OMIM: 616390 GeneReviews: Not available	not available
Xeroderma pigmentosum group B MedGen: C0268136 OMIM: 610651 GeneReviews: Xeroderma Pigmentosum	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of excision repair cross-complementing rodent repair deficiency, complementation group 3 (ERCC3) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	The interaction of Rev with ERCC3 is increased by the presence of RRE	PubMed
	rev	HIV-1 Rev interacting protein, excision repair cross-complementing rodent repair deficiency, complementation group 3 (ERCC3), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed
Tat	tat	HIV-1 Tat interacts with the RNA polymerase II holoenzyme and transcription preinitiation complexes, which include TFIIH, during Tat-mediated transactivation of the HIV-1 LTR	PubMed
	tat	TFIIH interacts with HIV-1 Tat as a component of the HIV-1 transcription preinitiation complex, but is released from the elongation complex which includes P-TEFb	PubMed
	tat	CAK/TFIIH is required for HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter	PubMed
	tat	Interaction of HIV-1 Tat with TFIIH stimulates phosphorylation of Ser-5 of the RNA polymerase II C-terminal domain (CTD), which in turn also stimulates co-transcriptional capping of HIV-1 mRNA	PubMed
	tat	The XPB (ERCC3) subunit of TFIIH inhibits phosphorylation of CDK9 in the HIV-1 transcription preinitiation and elongation complexes, thereby regulating HIV-1 Tat transactivation of the HIV-1 LTR promoter	PubMed
	tat	Amino acids 1-48 of HIV-1 Tat, which includes the Tat activation domain, mediate the binding of Tat to CAK and the TFIIH complex through a direct interaction with CDK7 and possibly other TFIIH subunits, including p62 and ERCC3	PubMed
	tat	TFIIH synergizes with HIV-1 Tat to induce transcription elongation from the HIV-1 LTR promoter	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48443 (e-PCR)
- UniSTS:84780

D2S2558 (e-PCR)
- UniSTS:75353

SHGC-59959 (e-PCR)
- UniSTS:65932

GDB:631802 (e-PCR)
- UniSTS:158429

RH69120 (e-PCR)
- UniSTS:28135

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'-5' DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3'-5' DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3'-5' DNA helicase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables 3'-5' DNA helicase activity	TAS Traceable Author Statement more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables damaged DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables promoter-specific chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA topological change	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in UV protection	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in hair cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in hair cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleotide-excision repair, DNA duplex unwinding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitotic cell cycle phase transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription by RNA polymerase II	TAS Traceable Author Statement more info
involved_in transcription elongation by RNA polymerase II	TAS Traceable Author Statement more info
involved_in transcription initiation at RNA polymerase II promoter	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription initiation at RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription-coupled nucleotide-excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription-coupled nucleotide-excision repair	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleotide-excision repair factor 3 complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed
part_of transcription factor TFIID complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIIH core complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIIH holo complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIIH holo complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIIH holo complex	TAS Traceable Author Statement more info	PubMed
part_of transcription preinitiation complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: general transcription and DNA repair factor IIH helicase/translocase subunit XPB

Names: BTF2 p89; DNA 3'-5' helicase/translocase XPB; DNA excision repair protein ERCC-3; DNA repair helicase; DNA repair protein complementing XP-B cells; TFIIH 89 kDa subunit; TFIIH basal transcription factor complex 89 kDa subunit; TFIIH basal transcription factor complex helicase XPB subunit; TFIIH p89; TFIIH subunit XPB; basic transcription factor 2 89 kDa subunit; excision repair cross-complementation group 3; excision repair cross-complementing rodent repair deficiency, complementation group 3; general transcription and DNA repair factor IIH helicase subunit XPB; xeroderma pigmentosum group B-complementing protein; xeroderma pigmentosum, complementation group B

NP_000113.1

EC 5.6.2.4

NP_001290345.1

EC 5.6.2.4

NP_001290347.1

EC 5.6.2.4

XP_011509096.1

EC 5.6.2.4

XP_011509097.1

EC 5.6.2.4

XP_054197001.1

EC 5.6.2.4

XP_054197002.1

EC 5.6.2.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007454.1 RefSeqGene

Range

5001..41887

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_462

mRNA and Protein(s)

NM_000122.2 → NP_000113.1 general transcription and DNA repair factor IIH helicase/translocase subunit XPB isoform a

See identical proteins and their annotated locations for NP_000113.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (a).

Source sequence(s)

M31899

Consensus CDS

CCDS2144.1

UniProtKB/Swiss-Prot

P19447, Q53QM0

UniProtKB/TrEMBL

A8K359

Related

ENSP00000285398.2, ENST00000285398.7

Conserved Domains (1) summary

TIGR00603
Location:60 → 779

rad25; DNA repair helicase rad25
NM_001303416.2 → NP_001290345.1 general transcription and DNA repair factor IIH helicase/translocase subunit XPB isoform b

See identical proteins and their annotated locations for NP_001290345.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2 and 3 encodes the same isoform.

Source sequence(s)

AC110926, AK091500, AK095557

UniProtKB/TrEMBL

B3KRG2

Conserved Domains (4) summary

TIGR00603
Location:1 → 715

rad25; DNA repair helicase rad25

pfam04851
Location:251 → 408

ResIII; Type III restriction enzyme, res subunit

pfam13625
Location:12 → 134

Helicase_C_3; Helicase conserved C-terminal domain

pfam16203
Location:432 → 675

ERCC3_RAD25_C; ERCC3/RAD25/XPB C-terminal helicase
NM_001303418.2 → NP_001290347.1 general transcription and DNA repair factor IIH helicase/translocase subunit XPB isoform b

See identical proteins and their annotated locations for NP_001290347.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2 and 3 encodes the same isoform.

Source sequence(s)

AC110926, AI222871, AK095557

UniProtKB/TrEMBL

B3KRG2

Conserved Domains (4) summary

TIGR00603
Location:1 → 715

rad25; DNA repair helicase rad25

pfam04851
Location:251 → 408

ResIII; Type III restriction enzyme, res subunit

pfam13625
Location:12 → 134

Helicase_C_3; Helicase conserved C-terminal domain

pfam16203
Location:432 → 675

ERCC3_RAD25_C; ERCC3/RAD25/XPB C-terminal helicase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

127257290..127294144 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011510794.3 → XP_011509096.1 general transcription and DNA repair factor IIH helicase/translocase subunit XPB isoform X1

UniProtKB/TrEMBL

A8K359

Conserved Domains (4) summary

TIGR00603
Location:60 → 785

rad25; DNA repair helicase rad25

pfam04851
Location:321 → 478

ResIII; Type III restriction enzyme, res subunit

pfam13625
Location:76 → 198

Helicase_C_3; Helicase conserved C-terminal domain

pfam16203
Location:502 → 745

ERCC3_RAD25_C; ERCC3/RAD25/XPB C-terminal helicase
XM_011510795.2 → XP_011509097.1 general transcription and DNA repair factor IIH helicase/translocase subunit XPB isoform X2

UniProtKB/TrEMBL

B3KRG2, B3KTH1

Conserved Domains (4) summary

COG1061
Location:148 → 554

SSL2; Superfamily II DNA or RNA helicase [Transcription, Replication, recombination and repair]

pfam04851
Location:169 → 326

ResIII; Type III restriction enzyme, res subunit

pfam13625
Location:2 → 46

Helicase_C_3; Helicase conserved C-terminal domain

pfam16203
Location:350 → 593

ERCC3_RAD25_C; ERCC3/RAD25/XPB C-terminal helicase

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

127692506..127729368 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054341026.1 → XP_054197001.1 general transcription and DNA repair factor IIH helicase/translocase subunit XPB isoform X1
XM_054341027.1 → XP_054197002.1 general transcription and DNA repair factor IIH helicase/translocase subunit XPB isoform X2