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Xrcc1 Gene Detail
Summary
  • Symbol
    Xrcc1
  • Name
    X-ray repair complementing defective repair in Chinese hamster cells 1
  • Synonyms
    Xrcc-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:99137
    NCBI Gene: 22594
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:24246124-24272863 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 11.42 cM, cytoband A3-B2
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    947 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_99137
 protein coding gene Chr7:24245714-24272865 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031834
 protein coding gene Chr7:22874787-22904316 (+)
A/J MGP_AJ_G0031813
 protein coding gene Chr7:22349439-22379240 (+)
AKR/J MGP_AKRJ_G0031742
 protein coding gene Chr7:22851398-22878656 (+)
BALB/cJ MGP_BALBcJ_G0031819
 protein coding gene Chr7:22569717-22596881 (+)
C3H/HeJ MGP_C3HHeJ_G0031539
 protein coding gene Chr7:23271317-23299362 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032282
 protein coding gene Chr7:23630889-23661574 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029340
 protein coding gene Chr7:23818879-23847249 (+)
CAST/EiJ MGP_CASTEiJ_G0030880
 protein coding gene Chr7:16748383-16797080 (+)
CBA/J MGP_CBAJ_G0031504
 protein coding gene Chr7:24517232-24547470 (+)
DBA/2J MGP_DBA2J_G0031658
 protein coding gene Chr7:22264646-22291964 (+)
FVB/NJ MGP_FVBNJ_G0031611
 protein coding gene Chr7:22234089-22261547 (+)
LP/J MGP_LPJ_G0031737
 protein coding gene Chr7:23237199-23266079 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031648
 protein coding gene Chr7:24281762-24313633 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032314
 protein coding gene Chr7:22577813-22610548 (+)
PWK/PhJ MGP_PWKPhJ_G0030604
 protein coding gene Chr7:17155665-17184425 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030434
 protein coding gene Chr7:13901449-13930355 (+)
WSB/EiJ MGP_WSBEiJ_G0030983
 protein coding gene Chr7:22696848-22727709 (+)



Homology
more
  • Human Ortholog
    XRCC1, X-ray repair cross complementing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    XRCC1, X-ray repair cross complementing 1
  • Synonyms
    RCC, SCAR26
  • Links
    NCBI Gene ID: 7515
    neXtProt AC: NX_P18887
    UniProt: P18887

  • Chr Location
    19q13.31; chr19:43543311-43580473 (-)  GRCh38
Human Diseases
more
  • Diseases
    47 with human XRCC1 associations

Human Disease Mouse Models
      
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Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 2 alleles in 6 genetic backgrounds
    7 phenotypes from multigenic genotypes
    30 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.
Homozygous null mutants accumulate unrepaired DNA strand breaks in the egg cylinder, show increased cell death in epiblast, developmental arrest at embryonic day 6.5, morphological anomalies in visceral embryonic endoderm by day 7.5 and die by day 8.5.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    46
  • GO References
    8
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
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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
    752
  • Tissues
    45
  • cDNA Data
    14
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22594 NCBI Gene Model | MGI Sequence Detail 26740 C57BL/6J ±  kb
    transcript NM_001360169 RefSeq | MGI Sequence Detail 2632 ZRU/MplStud  
    polypeptide Q60596 UniProt | EBI | MGI Sequence Detail 631 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      Genomic 1
      cDNA 15
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-15832, MGD-MRK-15833
    References
    more
    • Summaries
      All 83
      Developmental Gene Expression 8
      Gene Ontology 8
      Phenotypes 30
    • Earliest
      J:8371 Siciliano MJ, et al., Assignment of a human DNA-repair gene associated with sister-chromatid exchange to chromosome 19. Mutat Res. 1986 Aug;174(4):303-8
    • Latest
      J:299668 Uyeda A, et al., Suppression of DNA Double-Strand Break Formation by DNA Polymerase beta in Active DNA Demethylation Is Required for Development of Hippocampal Pyramidal Neurons. J Neurosci. 2020 Nov 18;40(47):9012-9027
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory