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Ercc1 Gene Detail
Summary
  • Symbol
    Ercc1
  • Name
    excision repair cross-complementing rodent repair deficiency, complementation group 1
  • Synonyms
    Ercc-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95412
    NCBI Gene: 13870
  • Gene Overview
    MyGene.info: ERCC1
Location & Maps
more
  • Sequence Map
    Chr7:19344778-19356524 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11747 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ERCC1, excision repair cross-complementation group 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ERCC1, excision repair cross-complementation group 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    COFS4, RAD10, UV20
  • Links
    NCBI Gene ID: 2067
    neXtProt AC: NX_P07992

  • Chr Location
    19q13.32; chr19:45407333-45478820 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Ercc1 mouse models; 1 with human ERCC1 associations

Human Disease Mouse Models
       Xfe Progeroid Syndrome; XFEPS   OMIM: 610965 View 1 model
       Cerebrooculofacioskeletal Syndrome 4; COFS4   OMIM: 610758
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    66 phenotypes from 5 alleles in 8 genetic backgrounds
    5 phenotypes from multigenic genotypes
    35 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Gene trapped
    8
  • Targeted
    7
  • Transgenic
    1
Nullizygous mutations result in growth and liver failure, nuclear anomalies and postnatal death, and may lead to spleen hypoplasia, altered isotype switching, B cell hypoproliferation, dystonia, ataxia, renal failure, sarcopenia, kyphosis, early replicative aging and sensitivity to oxidative stress.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030622 VEGA Gene Model | MGI Sequence Detail 11747 C57BL/6J ±  kb
transcript OTTMUST00000075825 VEGA | MGI Sequence Detail 1375 Not Applicable  
polypeptide OTTMUSP00000039817 VEGA | MGI Sequence Detail 298 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    150 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000007163 DNA excision repair protein ERCC-1
  • InterPro Domains
    IPR004579 ERCC1/RAD10/SWI10 family
    IPR003583 Helix-hairpin-helix DNA-binding motif, class 1
    IPR000445 Helix-hairpin-helix motif
    IPR011335 Restriction endonuclease type II-like
    IPR010994 RuvA domain 2-like
Molecular
Reagents
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  • All nucleic 59
    Genomic 7
    cDNA 49
    Primer pair 1
    Other 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-9575, MGD-MRK-9578
References
more
  • Summaries
    All 77
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 25
    Phenotypes 35
  • Earliest
    J:44382 Thompson LH, et al., Correction of a nucleotide-excision-repair mutation by human chromosome 19 in hamster-human hybrid cells. Somat Cell Mol Genet. 1985 Jan;11(1):87-92
  • Latest
    J:223785 Zhu Y, et al., The Achilles' heel of senescent cells: from transcriptome to senolytic drugs. Aging Cell. 2015 Aug;14(4):644-58

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory