About   Help   FAQ
Apaf1 Gene Detail
Summary
  • Symbol
    Apaf1
  • Name
    apoptotic peptidase activating factor 1
  • Synonyms
    6230400I06Rik, Apaf1l
  • Feature Type
    protein coding gene
  • IDs
    MGI:1306796
    NCBI Gene: 11783
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:90825173-90918632 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 45.47 cM, cytoband C3-D1
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    610 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1306796
 protein coding gene Chr10:90825173-90918688 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017642
 protein coding gene Chr10:92257084-92360002 (-)
A/J MGP_AJ_G0017621
 protein coding gene Chr10:89066530-89163267 (-)
AKR/J MGP_AKRJ_G0017579
 protein coding gene Chr10:91611265-91714269 (-)
BALB/cJ MGP_BALBcJ_G0017584
 protein coding gene Chr10:89352107-89448070 (-)
C3H/HeJ MGP_C3HHeJ_G0017407
 protein coding gene Chr10:91639220-91740558 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018041
 protein coding gene Chr10:95323750-95427222 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015723
 protein coding gene Chr10:84744001-84835329 (-)
CAST/EiJ MGP_CASTEiJ_G0016972
 protein coding gene Chr10:91563807-91666092 (-)
CBA/J MGP_CBAJ_G0017376
 protein coding gene Chr10:99253221-99363151 (-)
DBA/2J MGP_DBA2J_G0017482
 protein coding gene Chr10:88191269-88284521 (-)
FVB/NJ MGP_FVBNJ_G0017474
 protein coding gene Chr10:87411246-87506436 (-)
LP/J MGP_LPJ_G0017556
 protein coding gene Chr10:92890029-92994184 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017505
 protein coding gene Chr10:100698407-100815393 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018078
 protein coding gene Chr10:91511824-91614774 (-)
PWK/PhJ MGP_PWKPhJ_G0016753
 protein coding gene Chr10:88234499-88339463 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016541
 protein coding gene Chr10:90267590-90375297 (-)
WSB/EiJ MGP_WSBEiJ_G0017031
 protein coding gene Chr10:91482155-91581553 (-)



Homology
more
  • Human Ortholog
    APAF1, apoptotic peptidase activating factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    APAF1, apoptotic peptidase activating factor 1
  • Synonyms
    APAF-1, CED4
  • Links
    NCBI Gene ID: 317
    neXtProt AC: NX_O14727
    UniProt: O14727

  • Chr Location
    12q23.1; chr12:98645290-98735433 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Apaf1 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
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
    115 phenotypes from 6 alleles in 12 genetic backgrounds
    6 phenotypes from multigenic genotypes
    75 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.
Homozygotes for targeted null mutations have defects in apoptosis resulting in brain overgrowth, craniofacial defects, interdigit webbing and altered lens and retina. Most mutants die by embryonic day 16.5 or perinatally, and male survivors are sterile.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    33
  • GO References
    18
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
non-membrane-bounded 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
    753
  • Tissues
    20
  • cDNA Data
    99
  • Literature Summary
    25
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019979 Ensembl Gene Model | MGI Sequence Detail 93460 C57BL/6J ±  kb
    transcript ENSMUST00000159110 Ensembl | MGI Sequence Detail 6433 Not Applicable  
    polypeptide ENSMUSP00000125291 Ensembl | MGI Sequence Detail 1249 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 110
      Genomic 2
      cDNA 104
      Primer pair 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1096874, MGI:1277987, MGI:1923379
    References
    more
    • Summaries
      All 146
      Developmental Gene Expression 25
      Diseases 1
      Gene Ontology 18
      Phenotypes 75
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:325178 Xu W, et al., Apaf-1 Pyroptosome Senses Mitochondrial Permeability Transition. Cell Metab. 2021 Feb 2;33(2):424-436.e10
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory