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Apex1 Gene Detail
Summary
  • Symbol
    Apex1
  • Name
    apurinic/apyrimidinic endonuclease 1
  • Synonyms
    HAP1, Ref-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88042
    NCBI Gene: 11792
Location & Maps
more
  • Sequence Map
    Chr14:50924968-50927139 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2172 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    APEX1, APEX nuclease (multifunctional DNA repair enzyme) 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    APEX1, APEX nuclease (multifunctional DNA repair enzyme) 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    APE, APE1, APEN, APEX, APX, HAP1, REF1
  • Links
    NCBI Gene ID: 328
    neXtProt AC: NX_P27695

  • Chr Location
    14q11.2; chr14:20455131-20457772 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 1241
    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: APEX1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 4 alleles in 4 genetic backgrounds
    4 phenotypes from multigenic genotypes
    25 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Chemically induced (other)
    1
  • Gene trapped
    3
  • Targeted
    9
  • Genomic Mutations
    1 involving Apex1
  • Incidental Mutations
    APF
Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E10 associated with abnormal embryogenesis.
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019767 VEGA Gene Model | MGI Sequence Detail 2172 C57BL/6J ±  kb
transcript OTTMUST00000047275 VEGA | MGI Sequence Detail 1239 Not Applicable  
polypeptide OTTMUSP00000021336 VEGA | MGI Sequence Detail 317 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    36 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 11
    Genomic 4
    cDNA 4
    Primer pair 3

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-1352
References
more
  • Summaries
    All 71
    Developmental Gene Expression 10
    Gene Ontology 7
    Phenotypes 25
  • Earliest
    J:11535 Seki S, et al., cDNA and deduced amino acid sequence of a mouse DNA repair enzyme (APEX nuclease) with significant homology to Escherichia coli exonuclease III. J Biol Chem. 1991 Nov 5;266(31):20797-802
  • Latest
    J:218808 Wang H, et al., Distinct roles of Ape1 protein, an enzyme involved in DNA repair, in high or low linear energy transfer ionizing radiation-induced cell killing. J Biol Chem. 2014 Oct 31;289(44):30635-44

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory