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Xpc Gene Detail
Summary
  • Symbol
    Xpc
  • Name
    xeroderma pigmentosum, complementation group C
  • Feature Type
    protein coding gene
  • IDs
    MGI:103557
    NCBI Gene: 22591
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:91466287-91492870 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 40.55 cM, cytoband D
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    659 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103557
 protein coding gene Chr6:91466287-91492870 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031048
 protein coding gene Chr6:93089116-93115666 (-)
A/J MGP_AJ_G0031017
 protein coding gene Chr6:89541971-89568703 (-)
AKR/J MGP_AKRJ_G0030948
 protein coding gene Chr6:92029499-92056082 (-)
BALB/cJ MGP_BALBcJ_G0031028
 protein coding gene Chr6:89482994-89509577 (-)
C3H/HeJ MGP_C3HHeJ_G0030680
 protein coding gene Chr6:92387422-92415262 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031487
 protein coding gene Chr6:95506988-95533571 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028655
 protein coding gene Chr6:87525310-87546131 (-)
CAST/EiJ MGP_CASTEiJ_G0030135
 protein coding gene Chr6:92140120-92166448 (-)
CBA/J MGP_CBAJ_G0030714
 protein coding gene Chr6:99059886-99086469 (-)
DBA/2J MGP_DBA2J_G0030867
 protein coding gene Chr6:88724429-88750964 (-)
FVB/NJ MGP_FVBNJ_G0030821
 protein coding gene Chr6:87933300-87959969 (-)
LP/J MGP_LPJ_G0030947
 protein coding gene Chr6:93043981-93070547 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030855
 protein coding gene Chr6:103113709-103140292 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031514
 protein coding gene Chr6:91867294-91894859 (-)
PWK/PhJ MGP_PWKPhJ_G0029851
 protein coding gene Chr6:87677416-87704233 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029680
 protein coding gene Chr6:90782106-90810659 (-)
WSB/EiJ MGP_WSBEiJ_G0030219
 protein coding gene Chr6:92341646-92368228 (-)



Homology
more
  • Human Ortholog
    XPC, XPC complex subunit, DNA damage recognition and repair factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    XPC, XPC complex subunit, DNA damage recognition and repair factor
  • Synonyms
    p125, RAD4, XP3, XPCC
  • Links
    NCBI Gene ID: 7508
    neXtProt AC: NX_Q01831
    UniProt: Q01831

  • Chr Location
    3p25.1; chr3:14145147-14178621 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Xpc mouse models; 4 with human XPC associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 2 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 2 alleles in 4 genetic backgrounds
    30 phenotypes from multigenic genotypes
    1 images
    72 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 mutants are highly susceptible to ultraviolet-induced skin tumors and exhibit a 30-fold higher somatic frequency of gene mutations at one year of age. Mutant cells exhibit impaired nucleotide excision repair.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    61
  • GO References
    13
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
    708
  • Tissues
    1
  • cDNA Data
    55
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22591 NCBI Gene Model | MGI Sequence Detail 26584 C57BL/6J ±  kb
    transcript NM_009531 RefSeq | MGI Sequence Detail 3634 C57BL/6  
    polypeptide P51612 UniProt | EBI | MGI Sequence Detail 930 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 58
      Genomic 2
      cDNA 55
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-24442
    References
    more
    • Summaries
      All 112
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 13
      Phenotypes 72
    • Earliest
      J:46331 Lynch HT, et al., Xeroderma pigmentosum. Complementation group C and malignant melanoma. Arch Dermatol. 1984 Feb;120(2):175-9
    • Latest
      J:354587 Nedomova M, et al., DDI2 protease controls embryonic development and inflammation via TCF11/NRF1. iScience. 2024 Oct 18;27(10):110893
    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