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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:46175222-46196317 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 24.49 cM, cytoband C2
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    750 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_99135
 protein coding gene Chr4:46155347-46196317 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    XPA, XPA, DNA damage recognition and repair factor
  • Synonyms
    XP1, XPAC
  • Links
    NCBI Gene ID: 7507
    neXtProt AC: NX_P23025
    UniProt: P23025

  • Chr Location
    9q22.33; chr9:97654398-97697340 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Xpa mouse models; 2 with human XPA associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
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
    110 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 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
less
  • All GO Annotations
    31
  • 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
    711
  • Tissues
    2
  • cDNA Data
    35
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22590 NCBI Gene Model | MGI Sequence Detail 21096 C57BL/6J ±  kb
    transcript NR_188971 RefSeq | MGI Sequence Detail 2053 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 163
      Developmental Gene Expression 2
      Diseases 4
      Gene Ontology 13
      Phenotypes 110
    • 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:326465 Schubert N, et al., Genome Replication Is Associated With Release of Immunogenic DNA Waste. Front Immunol. 2022;13:880413
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory