About   Help   FAQ
Atpaf1 Gene Detail
Summary
  • Symbol
    Atpaf1
  • Name
    ATP synthase mitochondrial F1 complex assembly factor 1
  • Synonyms
    6330547J17Rik, ATP11, ATP11p
  • Feature Type
    protein coding gene
  • IDs
    MGI:2180560
    NCBI Gene: 230649
  • Alliance
    genome feature page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:115642025-115669120 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 53.06 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    546 from dbSNP Build 142
  • Strain Annotations
    23
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2180560
 protein coding gene Chr4:115642009-115679852 (+)
129S1/SvImJ ENSMUSG00200046719
 protein coding gene Chr4:109537913-109565430 (+)
129S1/SvImJ ENSMUSG00200026007
 protein coding gene Chr2:143259945-143261542 (+)
A/J ENSMUSG00195045043
 protein coding gene Chr4:110805983-110837145 (+)
AKR/J ENSMUSG00220045842
 protein coding gene Chr2:142968773-142970370 (+)
AKR/J ENSMUSG00220011986
 protein coding gene Chr4:110150465-110177997 (+)
BALB/cJ ENSMUSG00180038540
 protein coding gene Chr4:108880295-108909404 (+)
C3H/HeJ ENSMUSG00175036365
 protein coding gene Chr4:109894739-109923847 (+)
C57BL/6NJ ENSMUSG00215022104
 protein coding gene Chr4:110965200-110992698 (+)
C57BL/6NJ ENSMUSG00215029044
 protein coding gene Chr2:143109594-143111191 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026315
 protein coding gene Chr4:106225559-106255134 (+)
CAST/EiJ ENSTCUG00005020015
 protein coding gene Chr4:109663469-109692339 (+)
CBA/J ENSMUSG00210052990
 protein coding gene Chr4:109508253-109537365 (+)
DBA/2J ENSMUSG00185047795
 protein coding gene Chr2:143138506-143140157 (+)
DBA/2J ENSMUSG00185045970
 protein coding gene Chr4:111031767-111063046 (+)
FVB/NJ ENSMUSG00205027165
 protein coding gene Chr4:108977763-109006872 (+)
JF1/MsJ no annotation
LP/J ENSMUSG00230042839
 protein coding gene Chr4:114355234-114382761 (+)
LP/J ENSMUSG00230029937
 protein coding gene Chr2:144842455-144844052 (+)
NOD/ShiLtJ ENSMUSG00190040930
 protein coding gene Chr4:108877678-108905738 (+)
NZO/HlLtJ ENSMUSG00225001163
 protein coding gene Chr2:152830864-152832461 (+)
NZO/HlLtJ ENSMUSG00225009734
 protein coding gene Chr4:119842616-119870145 (+)
PWK/PhJ no annotation
SPRET/EiJ ENSMSPG00010023348
 protein coding gene Chr4:110408477-110431252 (+)
WSB/EiJ ENSIUOG00005042401
 protein coding gene Chr4:109191011-109220226 (+)



Homology
more
  • Human Ortholog
    ATPAF1, ATP synthase mitochondrial F1 complex assembly factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATPAF1, ATP synthase mitochondrial F1 complex assembly factor 1
  • Synonyms
    ATP11, ATP11p
  • Links
    NCBI Gene ID: 64756
    UniProt: Q5TC12

  • Chr Location
    1p33; chr1:46632071-46673867 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    32 phenotypes from 2 alleles in 2 genetic backgrounds
    15 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 survive to adulthood but exhibit slow postnatal weight gain, lactatemia, reduced mitochondrial respiration capacities, oxidative stress, mitochondrial ultrastructural and functional defects, impaired autophagy, and cardiac dysfunction associated with hypertrophy and left ventricular remodeling.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    6
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
    597
  • cDNA Data
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 230649 NCBI Gene Model | MGI Sequence Detail 27096 C57BL/6J ±  kb
    transcript NM_181040 RefSeq | MGI Sequence Detail 1925 C57BL/6  
    polypeptide Q811I0 UniProt | EBI | MGI Sequence Detail 324 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2138294
    References
    more
    • Summaries
      All 44
      Gene Ontology 6
      Phenotypes 15
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
    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
    09/08/2026
    MGI 6.24     		The Jackson Laboratory