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
  • Gene Overview
    MyGene.info: APAF1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr10:90989311-91082770 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      93460 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 45.47 cM, cytoband C3-D1
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    APAF1, apoptotic peptidase activating factor 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    APAF1, apoptotic peptidase activating factor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    APAF-1, CED4
  • Links
    NCBI Gene ID: 317
    neXtProt AC: NX_O14727
    UniProt: O14727

  • Chr Location
    12q23.1; chr12:98645141-98735433 (+)  GRCh38.p7
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
    113 phenotypes from 6 alleles in 12 genetic backgrounds
    6 phenotypes from multigenic genotypes
    68 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.
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
    41
  • GO References
    17
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 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
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
    30
  • Tissues
    9
  • cDNA Data
    99
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000027822 VEGA Gene Model | MGI Sequence Detail 93460 C57BL/6J ±  kb
    transcript OTTMUST00000068865 VEGA | MGI Sequence Detail 6433 Not Applicable  
    polypeptide OTTMUSP00000034902 VEGA | MGI Sequence Detail 1249 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      610 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 108
      Genomic 2
      cDNA 104
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1096874, MGI:1277987, MGI:1923379
    References
    more
    • Summaries
      All 132
      Developmental Gene Expression 19
      Diseases 1
      Gene Ontology 17
      Phenotypes 68
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:261070 Tong H, et al., Apaf1 plays a negative regulatory role in T cell responses by suppressing activation of antigen-stimulated T cells. PLoS One. 2018;13(3):e0195119
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.     		last database update
    10/16/2018
    MGI 6.12     		The Jackson Laboratory