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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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:19079016-19090449 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 9.60 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    385 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95412
 protein coding gene Chr7:19078703-19090449 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031771
 protein coding gene Chr7:17342171-17353256 (+)
A/J MGP_AJ_G0031747
 protein coding gene Chr7:16988086-17000339 (+)
AKR/J MGP_AKRJ_G0031673
 protein coding gene Chr7:17454147-17471112 (+)
BALB/cJ MGP_BALBcJ_G0031752
 protein coding gene Chr7:17191490-17203002 (+)
C3H/HeJ MGP_C3HHeJ_G0031474
 protein coding gene Chr7:17721010-17732108 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032218
 protein coding gene Chr7:18205524-18229397 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029284
 protein coding gene Chr7:18634729-18646966 (+)
CAST/EiJ MGP_CASTEiJ_G0030817
 protein coding gene Chr7:14121975-14142832 (+)
CBA/J MGP_CBAJ_G0031436
 protein coding gene Chr7:18877276-18889598 (+)
DBA/2J MGP_DBA2J_G0031591
 protein coding gene Chr7:16932482-16943989 (+)
FVB/NJ MGP_FVBNJ_G0031543
 protein coding gene Chr7:16791892-16805320 (+)
LP/J MGP_LPJ_G0031674
 protein coding gene Chr7:17662825-17673973 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031579
 protein coding gene Chr7:18730548-18743979 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032246
 protein coding gene Chr7:17059349-17072530 (+)
PWK/PhJ MGP_PWKPhJ_G0030541
 protein coding gene Chr7:14024591-14036088 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030368
 protein coding gene Chr7:11772771-11784055 (+)
WSB/EiJ MGP_WSBEiJ_G0030917
 protein coding gene Chr7:17281499-17295844 (+)



Homology
more
  • Human Ortholog
    ERCC1, ERCC excision repair 1, endonuclease non-catalytic subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ERCC1, ERCC excision repair 1, endonuclease non-catalytic subunit
  • Synonyms
    COFS4, RAD10, UV20
  • Links
    NCBI Gene ID: 2067
    neXtProt AC: NX_P07992
    UniProt: P07992

  • Chr Location
    19q13.32; chr19:45407334-45478828 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ercc1 mouse models; 17 with human ERCC1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    74 phenotypes from 5 alleles in 9 genetic backgrounds
    5 phenotypes from multigenic genotypes
    83 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    99
  • GO References
    25
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    765
  • Tissues
    20
  • cDNA Data
    50
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13870 NCBI Gene Model | MGI Sequence Detail 11434 C57BL/6J ±  kb
    transcript NM_001127324 RefSeq | MGI Sequence Detail 1221 ZRU/MplStud  
    polypeptide P07903 UniProt | EBI | MGI Sequence Detail 298 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 63
      Genomic 7
      cDNA 52
      Primer pair 1
      Other 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9575, MGD-MRK-9578
    References
    more
    • Summaries
      All 131
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 25
      Phenotypes 83
    • 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:350117 Jaarsma D, et al., Different Purkinje cell pathologies cause specific patterns of progressive gait ataxia in mice. Neurobiol Dis. 2024 Jan 28;192:106422
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory