Format

Send to:

Choose Destination

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

Gene ID: 2071, updated on 5-Mar-2019

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
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; 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

Genomic context

See ERCC3 in Genome Data Viewer
Location:
2q14.3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (127257290..127294176, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (128014866..128051752, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 27 subfamily C member 1 Neighboring gene WW domain binding protein 11 pseudogene Neighboring gene mitogen-activated protein kinase kinase kinase 2 Neighboring gene RNA, U6 small nuclear 1147, pseudogene Neighboring gene MAP3K2 divergent transcript

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3'-5' DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3'-5' DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
3'-5' DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding TAS
Traceable Author Statement
more info
PubMed 
contributes_to DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to DNA-dependent ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
damaged DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
helicase activity TAS
Traceable Author Statement
more info
 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
7-methylguanosine mRNA capping TAS
Traceable Author Statement
more info
 
DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA topological change IMP
Inferred from Mutant Phenotype
more info
PubMed 
UV protection IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic organ development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
global genome nucleotide-excision repair TAS
Traceable Author Statement
more info
 
hair cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hair cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair, DNA duplex unwinding IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair, DNA duplex unwinding TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleotide-excision repair, DNA incision IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair, DNA incision TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 3'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 5'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex assembly TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex stabilization TAS
Traceable Author Statement
more info
 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of mitotic cell cycle phase transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to UV IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
termination of RNA polymerase I transcription TAS
Traceable Author Statement
more info
 
transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription-coupled nucleotide-excision repair IDA
Inferred from Direct Assay
more info
PubMed 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleotide-excision repair factor 3 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
transcription factor TFIID complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with transcription factor TFIIH core complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor TFIIH holo complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor TFIIH holo complex IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor TFIIH holo complex TAS
Traceable Author Statement
more info
PubMed 
transcriptional preinitiation complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
general transcription and DNA repair factor IIH helicase subunit XPB
Names
BTF2 p89
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
xeroderma pigmentosum group B-complementing protein
xeroderma pigmentosum, complementation group B
NP_000113.1
NP_001290345.1
NP_001290347.1
XP_011509096.1
XP_011509097.1
XP_016859072.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_007454.1 RefSeqGene

    Range
    5001..41887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_462

mRNA and Protein(s)

  1. NM_000122.1NP_000113.1  general transcription and DNA repair factor IIH helicase 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
    Related
    ENSP00000285398.2, ENST00000285398.6
    Conserved Domains (1) summary
    TIGR00603
    Location:60779
    rad25; DNA repair helicase rad25
  2. NM_001303416.1NP_001290345.1  general transcription and DNA repair factor IIH helicase 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, B3KTH1, G3V1S1
    Conserved Domains (4) summary
    TIGR00603
    Location:1715
    rad25; DNA repair helicase rad25
    pfam04851
    Location:251408
    ResIII; Type III restriction enzyme, res subunit
    pfam13625
    Location:12134
    Helicase_C_3; Helicase conserved C-terminal domain
    pfam16203
    Location:432675
    ERCC3_RAD25_C; ERCC3/RAD25/XPB C-terminal helicase
  3. NM_001303418.1NP_001290347.1  general transcription and DNA repair factor IIH helicase 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
    B3KTH1, G3V1S1
    Conserved Domains (4) summary
    TIGR00603
    Location:1715
    rad25; DNA repair helicase rad25
    pfam04851
    Location:251408
    ResIII; Type III restriction enzyme, res subunit
    pfam13625
    Location:12134
    Helicase_C_3; Helicase conserved C-terminal domain
    pfam16203
    Location:432675
    ERCC3_RAD25_C; ERCC3/RAD25/XPB C-terminal helicase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    127257290..127294176 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510794.2XP_011509096.1  general transcription and DNA repair factor IIH helicase subunit XPB isoform X1

    Conserved Domains (4) summary
    TIGR00603
    Location:60785
    rad25; DNA repair helicase rad25
    pfam04851
    Location:321478
    ResIII; Type III restriction enzyme, res subunit
    pfam13625
    Location:76198
    Helicase_C_3; Helicase conserved C-terminal domain
    pfam16203
    Location:502745
    ERCC3_RAD25_C; ERCC3/RAD25/XPB C-terminal helicase
  2. XM_017003583.1XP_016859072.1  general transcription and DNA repair factor IIH helicase subunit XPB isoform X3

  3. XM_011510795.1XP_011509097.1  general transcription and DNA repair factor IIH helicase subunit XPB isoform X2

    Conserved Domains (4) summary
    COG1061
    Location:148554
    SSL2; Superfamily II DNA or RNA helicase [Transcription, Replication, recombination and repair]
    pfam04851
    Location:169326
    ResIII; Type III restriction enzyme, res subunit
    pfam13625
    Location:246
    Helicase_C_3; Helicase conserved C-terminal domain
    pfam16203
    Location:350593
    ERCC3_RAD25_C; ERCC3/RAD25/XPB C-terminal helicase
Support Center