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Xpa Gene Detail
Summary
  • Symbol
    Xpa
  • Name
    xeroderma pigmentosum, complementation group A
  • Synonyms
    Xpac
  • Feature Type
    protein coding gene
  • IDs
    MGI:99135
    NCBI Gene: 22590
  • Gene Overview
    MyGene.info: XPA
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:46174735-46196353 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 24.49 cM, cytoband C2
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    153 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99135
protein coding gene Chr4:46155347-46196353 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028254
protein coding gene Chr4:44436908-44479336 (-)
A/J MGP_AJ_G0028213
protein coding gene Chr4:42828436-42869260 (-)
AKR/J MGP_AKRJ_G0028163
protein coding gene Chr4:43866563-43907446 (-)
BALB/cJ MGP_BALBcJ_G0028233
protein coding gene Chr4:42925645-42966843 (-)
C3H/HeJ MGP_C3HHeJ_G0027954
protein coding gene Chr4:44470759-44517552 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028674
protein coding gene Chr4:46085597-46127704 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025983
protein coding gene Chr4:40218784-40260141 (-)
CAST/EiJ MGP_CASTEiJ_G0027393
protein coding gene Chr4:44030998-44074806 (-)
CBA/J MGP_CBAJ_G0027920
protein coding gene Chr4:47541066-47584441 (-)
DBA/2J MGP_DBA2J_G0028070
protein coding gene Chr4:42722952-42763675 (-)
FVB/NJ MGP_FVBNJ_G0028037
protein coding gene Chr4:41965260-42005819 (-)
LP/J MGP_LPJ_G0028169
protein coding gene Chr4:44494640-44536998 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028061
protein coding gene Chr4:50641889-50685381 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028709
protein coding gene Chr4:44084752-44126516 (-)
PWK/PhJ MGP_PWKPhJ_G0027118
protein coding gene Chr4:42811138-42853109 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026946
protein coding gene Chr4:43579453-43628115 (-)
WSB/EiJ MGP_WSBEiJ_G0027471
protein coding gene Chr4:43985977-44027411 (-)



Homology
more
  • Human Ortholog
    XPA, XPA, DNA damage recognition and repair factor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    XPA, XPA, DNA damage recognition and repair factor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    XP1, XPAC
  • Links
    NCBI Gene ID: 7507
    neXtProt AC: NX_P23025
    UniProt: P23025

  • Chr Location
    9q22.33; chr9:97654398-97697409 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Xpa mouse models; 1 with human XPA associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    42 phenotypes from 3 alleles in 6 genetic backgrounds
    83 phenotypes from multigenic genotypes
    10 images
    100 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mutants are highly susceptible to tumors induced by UV (skin and ocular tumors), 7,12-dimethylbenz[a]anthracene (skin tumors), benzo[a]pyrene (pulmonary tumors), 4-nitroquinoline-1-oxide (tongue tumors) and aflatoxin B(1) (liver tumors).
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22590 NCBI Gene Model | MGI Sequence Detail 21619 C57BL/6J ±  kb
    transcript NM_011728 RefSeq | MGI Sequence Detail 972 C57BL/6  
    polypeptide Q64267 UniProt | EBI | MGI Sequence Detail 272 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 41
      Genomic 6
      cDNA 35

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-15829, MGD-MRK-15830, MGI:2140334
    References
    more
    • Summaries
      All 152
      Developmental Gene Expression 2
      Diseases 4
      Gene Ontology 13
      Phenotypes 100
    • Earliest
      J:6457 Lin PF, et al., Murine DNA repair gene located on chromosome 4. Nature. 1981 Jan 15;289(5794):191-4
    • Latest
      J:275171 Shinomiya H, et al., Hearing Dysfunction in Xpa-Deficient Mice. Front Aging Neurosci. 2017;9:19

    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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    last database update
    10/08/2019
    MGI 6.14
    The Jackson Laboratory