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Aptx Gene Detail
Summary
  • Symbol
    Aptx
  • Name
    aprataxin
  • Synonyms
    2410016G21Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913658
    NCBI Gene: 66408
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:40682382-40703194 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 20.46 cM, cytoband B1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    695 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913658
 protein coding gene Chr4:40682078-40703206 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028145
 protein coding gene Chr4:38559045-38582586 (-)
A/J MGP_AJ_G0028103
 protein coding gene Chr4:37122868-37143933 (-)
AKR/J MGP_AKRJ_G0028066
 protein coding gene Chr4:38051175-38074440 (-)
BALB/cJ MGP_BALBcJ_G0028115
 protein coding gene Chr4:37445997-37468088 (-)
C3H/HeJ MGP_C3HHeJ_G0027843
 protein coding gene Chr4:38595780-38617476 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028556
 protein coding gene Chr4:39998131-40023435 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025897
 protein coding gene Chr4:34779197-34799626 (-)
CAST/EiJ MGP_CASTEiJ_G0027299
 protein coding gene Chr4:38258690-38282075 (-)
CBA/J MGP_CBAJ_G0027815
 protein coding gene Chr4:41339800-41364871 (-)
DBA/2J MGP_DBA2J_G0027959
 protein coding gene Chr4:37040662-37061689 (-)
FVB/NJ MGP_FVBNJ_G0027926
 protein coding gene Chr4:36373201-36394966 (-)
LP/J MGP_LPJ_G0028067
 protein coding gene Chr4:38626159-38654972 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027959
 protein coding gene Chr4:44703962-44725753 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028615
 protein coding gene Chr4:38166742-38188475 (-)
PWK/PhJ MGP_PWKPhJ_G0027018
 protein coding gene Chr4:37034697-37055841 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026846
 protein coding gene Chr4:37891689-37907837 (-)
WSB/EiJ MGP_WSBEiJ_G0027375
 protein coding gene Chr4:38119058-38139450 (-)



Homology
more
  • Human Ortholog
    APTX, aprataxin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    APTX, aprataxin
  • Synonyms
    AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT
  • Links
    NCBI Gene ID: 54840
    neXtProt AC: NX_Q7Z2E3
    UniProt: Q7Z2E3

  • Chr Location
    9p21.1; chr9:32886601-33025130 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human APTX associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    22 phenotypes from multigenic genotypes
    18 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.
Mice homozygous for a knock-out allele exhibit defects in single-strand DNA break repair.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • 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
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
    739
  • Tissues
    33
  • cDNA Data
    51
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028411 Ensembl Gene Model | MGI Sequence Detail 20813 C57BL/6J ±  kb
    transcript ENSMUST00000068125 Ensembl | MGI Sequence Detail 5383 Not Applicable  
    polypeptide ENSMUSP00000124264 Ensembl | MGI Sequence Detail 342 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      cDNA 53

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:3035118
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 8
      Phenotypes 18
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    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