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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
    gene 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
    590 from dbSNP Build 142
  • Strain Annotations
    17
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 MGP_129S1SvImJ_G0028608
 protein coding gene Chr4:116626750-116657005 (+)
A/J MGP_AJ_G0028569
 protein coding gene Chr4:112175377-112209002 (+)
AKR/J MGP_AKRJ_G0028518
 protein coding gene Chr4:114585260-114615239 (+)
BALB/cJ MGP_BALBcJ_G0028590
 protein coding gene Chr4:112807214-112836522 (+)
C3H/HeJ MGP_C3HHeJ_G0028304
 protein coding gene Chr4:116158580-116193459 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029031
 protein coding gene Chr4:121153891-121180019 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026315
 protein coding gene Chr4:106225559-106255134 (+)
CAST/EiJ no annotation
CBA/J MGP_CBAJ_G0028271
 protein coding gene Chr4:124443658-124478272 (+)
DBA/2J MGP_DBA2J_G0028419
 protein coding gene Chr4:112823612-112858289 (+)
FVB/NJ MGP_FVBNJ_G0028387
 protein coding gene Chr4:111310195-111343393 (+)
LP/J MGP_LPJ_G0028521
 protein coding gene Chr4:116852067-116875789 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028414
 protein coding gene Chr4:129462665-129496611 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029068
 protein coding gene Chr4:115734024-115772745 (+)
PWK/PhJ MGP_PWKPhJ_G0027464
 protein coding gene Chr4:109582255-109617184 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027287
 protein coding gene Chr4:111983474-112014821 (+)
WSB/EiJ MGP_WSBEiJ_G0027817
 protein coding gene Chr4:115600872-115635250 (+)



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; chr1:46632737-46673867 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 1 allele in 1 genetic background
    13 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
    3
  • GO References
    2
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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
    706
  • 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 38
      Gene Ontology 2
      Phenotypes 13
    • 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
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    Send questions and comments to User Support.     		last database update
    03/25/2025
    MGI 6.24     		The Jackson Laboratory