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FLASH GENE
Symbol ATP5F1D contributors: mct - updated : 12-04-2018
HGNC name ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit
HGNC id 837
Corresponding disease
ATP5F1DD ATP5F1D deficiency
Location 19p13.3      Physical location : -
Synonym symbol(s) ATP5D
EC.number 3.6.1.34/ 3.6.1.14
DNA
TYPE functioning gene
STRUCTURE 3.08 kb     4 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 1290 17.5 168 - 2003 12887009
293 bp insertion in the 3'utr
4 - 1005 17.5 168 - 2003 12887009
5 - 709 17.5 168 - 2003 12887009
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
isoforms Precursor
HOMOLOGY
Homologene
FAMILY ATPase epsilon chain family
CATEGORY enzyme , transport
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,inner
intracellular,cytoplasm,organelle,mitochondria,matrix
intracellular,cytoplasm,organelle,membrane
basic FUNCTION
  • producing ATP from ADP in the presence of a proton gradient across the membrane
  • plays an important role in coupling proton translocation and ATP production
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text protein
    PATHWAY
    metabolism energetic
    signaling
    oxydative phosphorylation
    a component
  • constituent of mitochondrial matrix F1 segment
  • component of complex V of oxidative phosphorylation (OXPHOS)
  • INTERACTION
    DNA
    RNA
    small molecule
    ADP, ATP, Pi binding
    protein
  • association between ATP5F1D and the Aa98-113 domain of MPL (the dissociation of ATP5F1D from MPL after TPO stimulation suggests that ATP5F1D may be a new component of TPO signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATP5F1DD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    cytosolic accumulation observed even at early stages of neurofibrillary degenerating process in Alzheimer disease
    constitutional     --low  
    in the spinal cord in ALS: decreased ATP5D levels suggest synaptic dysfunction in ALS pathogenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target potential target for therapeutic and diagnostic strategies in AD
    ANIMAL & CELL MODELS