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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
  • Gene Overview
    MyGene.info: XPC
Location & Maps
more
  • Sequence Map
    Chr6:91489305-91515888 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      26584 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 40.55 cM, cytoband D
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    XPC, XPC complex subunit, DNA damage recognition and repair factor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    XPC, XPC complex subunit, DNA damage recognition and repair factor
    Orthology source: HGNC, HomoloGene
  • Synonyms
    p125, RAD4, XP3, XPCC
  • Links
    NCBI Gene ID: 7508
    neXtProt AC: NX_Q01831

  • Chr Location
    3p25.1; chr3:14145147-14178672 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3401
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: XPC
  • Gene Tree
    Xpc
Human Diseases
more
  • Diseases
    2 with Xpc mouse models; 1 with human XPC associations

Human Disease Mouse Models
       Xeroderma Pigmentosum, Complementation Group C; XPC   OMIM: 278720 View 1 model
       Lung Cancer   OMIM: 211980 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 2 alleles in 4 genetic backgrounds
    30 phenotypes from multigenic genotypes
    1 images
    58 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.
  • All Mutations and Alleles
    7
  • Gene trapped
    2
  • Spontaneous
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Xpc
  • Incidental Mutations
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
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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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024133 VEGA Gene Model | MGI Sequence Detail 26584 C57BL/6J ±  kb
transcript OTTMUST00000059041 VEGA | MGI Sequence Detail 3634 Not Applicable  
polypeptide OTTMUSP00000028684 VEGA | MGI Sequence Detail 930 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    145 from dbSNP Build 142
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000017494 DNA repair protein complementing XP-C cells
  • InterPro Domains
    IPR004583 DNA repair protein Rad4
    IPR018026 DNA repair protein Rad4, subgroup
    IPR018326 Rad4 beta-hairpin domain 1
    IPR018327 Rad4 beta-hairpin domain 2
    IPR018328 Rad4 beta-hairpin domain 3
    IPR018325 Rad4/PNGase transglutaminase-like fold
Molecular
Reagents
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  • All nucleic 55
    Genomic 2
    cDNA 53

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-24442
References
more
  • Summaries
    All 88
    Diseases 3
    Gene Ontology 10
    Phenotypes 58
  • 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:231816 Rainey RN, et al., Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice. J Neurosci. 2016 Apr 27;36(17):4758-70

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory