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Atp5a1 Gene Detail
Summary
  • Symbol
    Atp5a1
  • Name
    ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1
  • Synonyms
    Atpm, D18Ertd206e, Mom2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88115
    NCBI Gene: 11946
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:77773768-77782869 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 52.38 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    43 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 Chr18:77773729-77782869 (.)
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
    11
  • Human Ortholog
    ATP5F1A, ATP synthase F1 subunit alpha
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATP5A, ATP5A1, ATP5AL2, ATPM, COXPD22, hATP1, HEL-S-123m, MC5DN4, MOM2, OMR, ORM
  • Links
    NCBI Gene ID: 498
    neXtProt AC: NX_P25705
    UniProt: P25705

  • Chr Location
    18q21.1; chr18:46084144-46104233 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with human ATP5F1A associations

Human Disease Mouse Models
      
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
    16 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.
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
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  • All GO Annotations
  • GO References
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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 C57BL/6  
    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
    • 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
    Molecular
    Reagents
    less
    • All nucleic 1474
      cDNA 1471
      Primer pair 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1468, MGD-MRK-1477, MGI:1098570, MGI:1891402, MGI:2147192, MGI:2147287, MGI:2147288
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 12
      Gene Ontology 18
      Phenotypes 16
    • 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:249661 Schatton D, et al., CLUH regulates mitochondrial metabolism by controlling translation and decay of target mRNAs. J Cell Biol. 2017 Mar 06;216(3):675-693

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory