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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:51162425-51164596 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 26.30 cM, cytoband C3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    116 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88042
 protein coding gene Chr14:51162406-51164645 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021263
 protein coding gene Chr14:44878810-44880909 (+)
A/J MGP_AJ_G0021217
 protein coding gene Chr14:43540499-43543280 (+)
AKR/J MGP_AKRJ_G0021193
 protein coding gene Chr14:45185043-45187143 (+)
BALB/cJ MGP_BALBcJ_G0021220
 protein coding gene Chr14:43655691-43658386 (+)
C3H/HeJ MGP_C3HHeJ_G0021002
 protein coding gene Chr14:45009060-45011157 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021656
 protein coding gene Chr14:46713782-46715982 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019209
 protein coding gene Chr14:42871541-42873719 (+)
CAST/EiJ MGP_CASTEiJ_G0020526
 protein coding gene Chr14:42067517-42069695 (+)
CBA/J MGP_CBAJ_G0020969
 protein coding gene Chr14:48197912-48200043 (+)
DBA/2J MGP_DBA2J_G0021093
 protein coding gene Chr14:43432716-43435099 (+)
FVB/NJ MGP_FVBNJ_G0021074
 protein coding gene Chr14:43059364-43061581 (+)
LP/J MGP_LPJ_G0021161
 protein coding gene Chr14:45171291-45174294 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021102
 protein coding gene Chr14:47680980-47683081 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021686
 protein coding gene Chr14:44670991-44673087 (+)
PWK/PhJ MGP_PWKPhJ_G0020276
 protein coding gene Chr14:40334258-40336492 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020101
 protein coding gene Chr14:40829664-40831857 (+)
WSB/EiJ MGP_WSBEiJ_G0020579
 protein coding gene Chr14:44860781-44864490 (+)



Homology
more
  • Human Ortholog
    APEX1, apurinic/apyrimidinic endodeoxyribonuclease 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    APEX1, apurinic/apyrimidinic endodeoxyribonuclease 1
  • Synonyms
    APE, APE1, APEN, APEX, APX, HAP1, REF1
  • Links
    NCBI Gene ID: 328
    neXtProt AC: NX_P27695
    UniProt: P27695

  • Chr Location
    14q11.2; chr14:20455191-20457772 (+)  GRCh38
Human Diseases
more
  • Diseases
    9 with human APEX1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    33 phenotypes from 4 alleles in 4 genetic backgrounds
    4 phenotypes from multigenic genotypes
    32 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 embryonic lethality prior to E10 associated with abnormal embryogenesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    81
  • 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
    1062
  • Tissues
    72
  • cDNA Data
    6
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000035960 Ensembl Gene Model | MGI Sequence Detail 2172 C57BL/6J ±  kb
    transcript ENSMUST00000049411 Ensembl | MGI Sequence Detail 1239 Not Applicable  
    polypeptide ENSMUSP00000042602 Ensembl | MGI Sequence Detail 317 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      Genomic 4
      cDNA 6
      Primer pair 3
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1352
    References
    more
    • Summaries
      All 93
      Developmental Gene Expression 14
      Gene Ontology 8
      Phenotypes 32
    • 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:350733 Rios-Covian D, et al., A Novel Hypomorphic Apex1 Mouse Model Implicates Apurinic/Apyrimidinic Endonuclease 1 in Oxidative DNA Damage Repair in Gastric Epithelial Cells. Antioxid Redox Signal. 2023 Jan;38(1-3):183-197
    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