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Atp5f1a Gene Detail
Summary
  • Symbol
    Atp5f1a
  • Name
    ATP synthase F1 subunit alpha
  • Synonyms
    Atp5a1, Atpm, D18Ertd206e, Mom2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88115
    NCBI Gene: 11946
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:77861468-77870569 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 52.38 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    385 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88115
 protein coding gene Chr18:77861429-77870569 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024579
 protein coding gene Chr18:78580464-78589597 (+)
A/J MGP_AJ_G0024546
 protein coding gene Chr18:75156955-75166095 (+)
AKR/J MGP_AKRJ_G0024517
 protein coding gene Chr18:77320447-77329445 (+)
BALB/cJ MGP_BALBcJ_G0024545
 protein coding gene Chr18:75346779-75355907 (+)
C3H/HeJ MGP_C3HHeJ_G0024314
 protein coding gene Chr18:77471293-77480427 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024992
 protein coding gene Chr18:80638368-80647507 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022422
 protein coding gene Chr18:74125512-74134898 (+)
CAST/EiJ MGP_CASTEiJ_G0023786
 protein coding gene Chr18:77776781-77785959 (+)
CBA/J MGP_CBAJ_G0024283
 protein coding gene Chr18:83511042-83520181 (+)
DBA/2J MGP_DBA2J_G0024413
 protein coding gene Chr18:74698768-74707905 (+)
FVB/NJ MGP_FVBNJ_G0024379
 protein coding gene Chr18:74059161-74068472 (+)
LP/J MGP_LPJ_G0024497
 protein coding gene Chr18:78486924-78496069 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024409
 protein coding gene Chr18:84740915-84750109 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025040
 protein coding gene Chr18:77539293-77548419 (+)
PWK/PhJ MGP_PWKPhJ_G0023531
 protein coding gene Chr18:75123863-75133569 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023335
 protein coding gene Chr18:77718034-77728311 (+)
WSB/EiJ MGP_WSBEiJ_G0023850
 protein coding gene Chr18:77491126-77500258 (+)



Homology
more
  • Human Ortholog
    ATP5F1A, ATP synthase F1 subunit alpha
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP5F1A, ATP synthase F1 subunit alpha
  • Synonyms
    ATP5A, ATP5A1, ATP5AL2, ATPM, COXPD22, hATP1, HEL-S-123m, MC5DN4, MC5DN4A, MC5DN4B, MOM2, OMR, ORM
  • Links
    NCBI Gene ID: 498
    neXtProt AC: NX_P25705
    UniProt: P25705

  • Chr Location
    18q21.1; chr18:46080248-46104334 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with human ATP5F1A associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    17 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 carrying a targeted mutation of this gene display preweaning and embryonic lethality. Heterozygous mutants exhibit decreased body weight and lean body mass and reduced circulating insulin, serum albumin, and total protein levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    57
  • GO References
    19
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
    1004
  • Tissues
    121
  • cDNA Data
    1471
  • Literature Summary
    33
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11946 NCBI Gene Model | MGI Sequence Detail 9102 C57BL/6J ±  kb
    transcript NM_007505 RefSeq | MGI Sequence Detail 2443 ZRU/MplStud  
    polypeptide Q03265 UniProt | EBI | MGI Sequence Detail 553 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000004453 ATP synthase subunit alpha, mitochondrial
      (term hierarchy)
    • InterPro Domains
      IPR020003 ATPase, alpha/beta subunit, nucleotide-binding domain, active site
      IPR004100 ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain
      IPR036121 ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain superfamily
      IPR000194 ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain
      IPR000793 ATP synthase, alpha subunit, C-terminal
      IPR038376 ATP synthase, alpha subunit, C-terminal domain superfamily
      IPR005294 ATP synthase, F1 complex, alpha subunit
      IPR033732 ATP synthase, F1 complex, alpha subunit nucleotide-binding domain
      IPR023366 ATP synthase subunit alpha, N-terminal domain-like superfamily
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    • GlyGen
      Q03265 4 sites, 1 O-linked glycan (4 sites)
    Molecular
    Reagents
    less
    • All nucleic 1477
      cDNA 1471
      Primer pair 6

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1468, MGD-MRK-1477, MGI:1098570, MGI:1891402, MGI:2147192, MGI:2147287, MGI:2147288, MGI:7469632
    References
    more
    • Summaries
      All 101
      Developmental Gene Expression 33
      Gene Ontology 19
      Phenotypes 17
    • Earliest
      J:4125 Yotov WV, et al., Cloning and functional expression analysis of the alpha subunit of mouse ATP synthase. Biochem Biophys Res Commun. 1993 Feb 26;191(1):142-8
    • Latest
      J:353791 Xu L, et al., Context-dependent roles of mitochondrial LONP1 in orchestrating the balance between airway progenitor versus progeny cells. Cell Stem Cell. 2024 Aug 16;
    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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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory