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Ercc3
Gene Detail
Symbol

Name
ID
Ercc3
excision repair cross-complementing rodent repair deficiency, complementation group 3
MGI:95414
Synonyms
XPB
Feature Type
protein coding gene
Genetic Map
Chromosome 18
17.97 cM, cytoband B3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr18:32240300-32270151 bp, + strand
From VEGA annotation of GRCm38

  29852 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:96  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: ERCC3
Protein SuperFamily: DNA excision repair cross-complementing protein ERCC3
Gene Tree: Ercc3

Human
homologs
ERCC3, excision repair cross-complementation group 3
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 2071
neXtProt AC: NX_P19447

Human Synonyms: BTF2, GTF2H, RAD25, TFIIH, XPB

Human Chr (Location): 2q21; chr2:127257290-127294176 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human ERCC3

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a frame shift mutation in exon 15 exhibit embryonic lethality prior to E8.5. Mice homozygous for a frame shift mutation following by a stop codon insertion in exon 15 exhibit increased sensitivity to ultraviolet- and gamma-irradiation.
 
Human Diseases Modeled in Mice Using Ercc3 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Ercc3 interacts with 95 markers (Mir7-2, Mir7b, Mir34b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (44 annotations)
Process apoptotic process, cellular response to DNA damage stimulus, ...
Component core TFIIH complex, holo TFIIH complex, ...
Function 3'-5' DNA helicase activity, ATPase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (34)    Tissues (26)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 18
Northern blot 16
cDNA source data(81)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ercc3 ; ZFIN ercc3    NEW 
Molecular
reagents
All nucleic(87) Genomic(6) cDNA(81)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000023961 (Evidence)
Ensembl Gene Model ENSMUSG00000024382 (Evidence)
Entrez Gene 13872 (Evidence)
UniGene 282335
DFCI TC1574709, TC1604746
DoTS DT.101231291, DT.491117
NIA Mouse Gene Index U018523
EC 3.6.4.12
Consensus CDS Project CCDS29118.1
International Mouse Phenotyping Consortium Status Ercc3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023961 VEGA Gene Model | MGI Sequence Detail 29852 C57BL/6J ±  kb
transcript OTTMUST00000058560 VEGA | MGI Sequence Detail 2708 Not Applicable 
polypeptide OTTMUSP00000028389 VEGA | MGI Sequence Detail 783 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(5) UniProt(4)
Polymorphisms
SNPs within 2kb(114 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001650 Helicase, C-terminal
InterPro IPR001161 Helicase Ercc3
InterPro IPR014001 Helicase, superfamily 1/2, ATP-binding domain
InterPro IPR006935 Helicase/UvrB domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000007165 TFIIH basal transcription factor complex helicase XPB subunit
References
(Earliest) J:1626 Weeda G, et al., Characterization of the mouse homolog of the XPBC/ERCC-3 gene implicated in xeroderma pigmentosum and Cockayne's syndrome. Carcinogenesis. 1991 Dec;12(12):2361-8
(Latest) J:201955 Mourgues S, et al., ELL, a novel TFIIH partner, is involved in transcription restart after DNA repair. Proc Natl Acad Sci U S A. 2013 Oct 29;110(44):17927-32
All references(36)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-9577, MGD-MRK-9580

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory