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FLASH GENE
Symbol ATPAF2 contributors: mct - updated : 10-11-2006
HGNC name ATP synthase mitochondrial F1 complex assembly factor 2
HGNC id 18802
Corresponding disease
C5MTND mitochondrial complex 5 deficiency
Location 17p11.2      Physical location : 17.921.333 - 17.942.480
Synonym name ATP12 homolog
Synonym symbol(s) ATP12, ATP12p, MGC29736, LP3663
DNA
TYPE functioning gene
STRUCTURE 21.15 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure housekeeping gene
MAPPING cloned Y linked N status confirmed
Map see SMCR (phenotype)
regionally located within the Smith-Magenis critical region
RNA
TRANSCRIPTS type messenger
text several alternative transcripts
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 1552 - 289 - -
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Nervousbrain   highly
Respiratorylung   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text whole
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a highly conserved acidic residue near the C terminus
  • HOMOLOGY
    interspecies ortholog to yeast S.cerevisiae,assembly of the F1 component of the mitochondrial ATPase
    intraspecies paralog to ATPAF1
    Homologene
    FAMILY
  • ATP12 family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • preventing the ATP factor for the F(1) component from forming non productive homooligomers during enzyme assembly
  • with ATPAF1, are proteins required for the assembly of beta (F(1)-beta) and alpha (F(1)-alpha) subunits into the mitochondrial ATPase
  • required for the F1 assembly, preserved in all eukaryotic lineages that are capable of ATP synthesis via oxidative phosphorylation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism drug
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to F1 beta subunits
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) C5MTND
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS