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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
  • Gene Overview
    MyGene.info: APTX
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:40682382-40703194 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 20.46 cM, cytoband B1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    96 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 Chr4:40682078-40721667 (-)
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
    10
  • Human Ortholog
    APTX, aprataxin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT
  • Links
    NCBI Gene ID: 54840
    neXtProt AC: NX_Q7Z2E3
    UniProt: Q7Z2E3

  • Chr Location
    9p21.1; chr9:32883872-33025129 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 41634
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: APTX
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human APTX associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    14 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.
Mice homozygous for a knock-out allele exhibit defects in single-strand DNA break repair.
Gene Ontology
(GO)
Classifications
less
  • 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
  • cDNA Data
  • Literature Summary
Interactions
less
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 45
    Developmental Gene Expression 1
    Gene Ontology 7
    Phenotypes 14
  • 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:218098 Carroll J, et al., Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing. Hum Mol Genet. 2015 Feb 1;24(3):828-40

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
12/04/2018
MGI 6.13
The Jackson Laboratory