Ercc3 excision repair cross-complementing rodent repair deficiency, complementation group 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ercc3provided by MGI
Official Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 3provided by MGI
Primary source: MGI:MGI:95414
See related: Ensembl:ENSMUSG00000024382 AllianceGenome:MGI:95414
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: XPB; Ercc-3; BTF2 p89
Summary: Enables ATP hydrolysis activity and promoter-specific chromatin binding activity. Acts upstream of or within UV protection and transcription elongation by RNA polymerase I. Predicted to be located in nucleoplasm. Predicted to be part of RNA polymerase II transcription regulator complex; nucleotide-excision repair factor 3 complex; and transcription preinitiation complex. Is expressed in several structures, including brain; eye; liver; oral region epithelium; and tooth. Used to study xeroderma pigmentosum group B. Human ortholog(s) of this gene implicated in lung non-small cell carcinoma; photosensitive trichothiodystrophy 2; trichothiodystrophy; xeroderma pigmentosum; and xeroderma pigmentosum group B. Orthologous to human ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in genital fat pad adult (RPKM 17.5), bladder adult (RPKM 13.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 B1; 18 17.97 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (32373357..32403206)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (32240304..32270151)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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	ISO Inferred from Sequence Orthology more info
enables 3'-5' DNA helicase activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables forked DNA-dependent helicase activity	IEA Inferred from Electronic Annotation more info
enables four-way junction helicase activity	IEA Inferred from Electronic Annotation more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables promoter-specific chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables single-stranded 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
involved_in DNA topological change	ISO Inferred from Sequence Orthology more info
involved_in DNA topological change	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within UV protection	IGI Inferred from Genetic Interaction more info	PubMed
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in embryonic organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic organ development	IEA Inferred from Electronic Annotation more info
involved_in hair cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in hair cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in hair cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in nucleotide-excision repair	ISO Inferred from Sequence Orthology more info
involved_in nucleotide-excision repair, DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in nucleotide-excision repair, DNA duplex unwinding	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in protein localization	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitotic cell cycle phase transition	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitotic cell cycle phase transition	ISO Inferred from Sequence Orthology more info
involved_in response to UV	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	ISO Inferred from Sequence Orthology more info
involved_in transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within transcription elongation by RNA polymerase I	EXP Inferred from Experiment more info	PubMed
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	IEA Inferred from Electronic Annotation more info
involved_in transcription initiation at RNA polymerase II promoter	ISO Inferred from Sequence Orthology more info
involved_in transcription-coupled nucleotide-excision repair	ISO Inferred from Sequence Orthology more info
involved_in transcription-coupled nucleotide-excision repair	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
part_of nucleotide-excision repair factor 3 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIID complex	IEA Inferred from Electronic Annotation more info
part_of transcription factor TFIID complex	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIIH core complex	IEA Inferred from Electronic Annotation more info
part_of transcription factor TFIIH core complex	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIIH holo complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIIH holo complex	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIIH holo complex	ISS Inferred from Sequence or Structural Similarity more info
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; general transcription and DNA repair factor IIH helicase subunit XPB

Names: DNA 3'-5' helicase/translocase XPB; DNA excision repair protein ERCC-3; DNA repair protein complementing XP-B cells; TFIIH 89 kDa subunit; TFIIH basal transcription factor complex helicase XPB subunit; basic transcription factor 2 89 kDa subunit; xeroderma pigmentosum group B-complementing protein

NP_598419.1

EC 5.6.2.4

XP_006525699.1

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.

mRNA and Protein(s)

NM_133658.2 → NP_598419.1 general transcription and DNA repair factor IIH helicase/translocase subunit XPB

See identical proteins and their annotated locations for NP_598419.1

Status: VALIDATED

Source sequence(s)

BC022956, BY273530, S71186

Consensus CDS

CCDS29118.1

UniProtKB/Swiss-Prot

P49135

UniProtKB/TrEMBL

Q3U3I5

Related

ENSMUSP00000025241.7, ENSMUST00000025241.7

Conserved Domains (4) summary

TIGR00603
Location:60 → 780

rad25; DNA repair helicase rad25

pfam04851
Location:316 → 473

ResIII; Type III restriction enzyme, res subunit

pfam13625
Location:76 → 198

Helicase_C_3; Helicase conserved C-terminal domain

pfam16203
Location:497 → 740

ERCC3_RAD25_C; ERCC3/RAD25/XPB C-terminal helicase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

32373357..32403206

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006525636.2 → XP_006525699.1 general transcription and DNA repair factor IIH helicase subunit XPB isoform X1

Conserved Domains (1) summary

TIGR00603
Location:60 → 578

rad25; DNA repair helicase rad25