Ercc4
Gene Detail

Symbol Name ID

Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 MGI:1354163

Synonyms

Xpf

Feature Type

protein coding gene

Genetic Map

Chromosome 16

8.93 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr16:13109684-13150617 bp, + strand From VEGA annotation of GRCm38   40934 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:3836  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: DNA repair endonuclease
Gene Tree: Ercc4

Human homologs

Human Homolog		ERCC4, excision repair cross-complementing rodent repair deficiency, complementation group 4
NCBI Gene ID		2072
neXtProt AC		NX_Q92889
Human Synonyms		ERCC11, FANCQ, RAD1, XPF
Human Chr (Location)		16p13.12; chr16:14014014-14046205 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human ERCC4

Alleles and phenotypes

All alleles(51) : Targeted(1) Gene trapped(50)
 

Homozygous null mice show impaired growth and do not survive longer than several weeks of age. Cultutred cells obtained from mutant mice were shown to be hypersensitive to UV irradiation.

 
Human Diseases Modeled Using Mouse Ercc4 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (44 annotations)

Process	DNA metabolic process, DNA repair, ...
Component	chromosome, telomeric region, nuclear chromosome, telomeric region, ...
Function	damaged DNA binding, DNA binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (40)    Tissues (26)    Images (13)
Theiler Stages: 19, 23, 28

Assay Type	Results
RNA in situ	40

cDNA source data(48)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(48) cDNA(48)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000024311 (Evidence)
Ensembl Gene Model	ENSMUSG00000022545 (Evidence)
Entrez Gene	50505 (Evidence)
UniGene	287837
DFCI	TC1580710, TC1595699, TC1598837, TC1619722
DoTS	DT.101378135, DT.101724887, DT.60101419, DT.60104925
NIA Mouse Gene Index	U016819
EC	3.1.-.-
Consensus CDS Project	CCDS37256.1
International Mouse Knockout Project Status	Ercc4

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024311	VEGA Gene Model | MGI Sequence Detail	40934	C57BL/6J
transcript	OTTMUST00000059540	VEGA | MGI Sequence Detail	3480	Not Applicable
polypeptide	OTTMUSP00000028967	VEGA | MGI Sequence Detail	917	Not Applicable

All sequences(53) RefSeq(2) UniProt(6)

Polymorphisms

RFLP(1) : SNPs(156 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR020819	DNA repair nuclease, XPF-type/Helicase
InterPro	IPR006167	DNA repair protein
InterPro	IPR006166	ERCC4 domain
InterPro	IPR011335	Restriction endonuclease type II-like
InterPro	IPR010994	RuvA domain 2-like
Protein Ontology	PR:000007166	DNA repair endonuclease XPF

References

(Earliest) J:60251 Shannon M, et al., Characterization of the mouse Xpf DNA repair gene and differential expression during spermatogenesis. Genomics. 1999 Dec 15;62(3):427-35
(Latest) J:181994 Kamileri I, et al., Defective transcription initiation causes postnatal growth failure in a mouse model of nucleotide excision repair (NER) progeria. Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):2995-3000
All references(41)

Other accession IDs

MGI:2146464