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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)
Physical map
FLJ10193 RASD1 17p11.2 RAS, dexamethasone-induced 1 PEMT 17p11.2 phosphatidylethanolamine N-methyltransferase FLJ23022 17p11.2 hypothetical protein FLJ23022 RAI1 17p11.2 retinoic acid induced 1 SMCR5 17p11.2 Smith-Magenis syndrome chromosome region, candidate 5 SREBF1 17p11.2 sterol regulatory element binding transcription factor 1 TOM1L2 17p11.2 target of myb1-like 2 (chicken) DKFZP586M1120 17p11.2 hypothetical protein DKFZp586M1120 ATPAF2 17p11.2 ATP synthase mitochondrial F1 complex assembly factor 2 MGC3048 17p11.2 hypothetical protein MGC3048 DRG2 17p11.2 developmentally regulated GTP binding protein 2 MYO15A 17p11.2 myosin XVA FLJ20308 17p11.2 hypothetical protein FLJ20308 LLGL1 17p11.2 lethal giant larvae homolog 1 (Drosophila) FLII 17p11.2 flightless I homolog (Drosophila) SMCR7 17p12 Smith-Magenis syndrome chromosome region, candidate 7 TOP3A 17p11.2 topoisomerase (DNA) III alpha SMCR8 17p11.2 Smith-Magenis syndrome chromosome region, candidate 8 SHMT1 17p11.2 serine hydroxymethyltransferase 1 (soluble) LOC339237 17p11.2 similar to Envoplakin (210 kDa paraneoplastic pemphigus antigen) (p210) (210 kDa cornified envelope precursor) LOC339240 17p11.2 keratin pseudogene LOC339241 17p11.2 keratin pseudogene LOC339242 17p11.2 similar to Keratin, type I cytoskeletal 14 (Cytokeratin 14) (K14) (CK 14) LOC339243 17p11.2 similar to Keratin, type I cytoskeletal 16 (Cytokeratin 16) (K16) (CK 16) LOC339244 17p11.2 keratin pseudogene LOC252968 17p11.2 karyopherin (importin) beta 2 pseudogene LOC147158 17p11.2 lectin, galactoside-binding, soluble, 9 (galectin 9) pseudogene LOC201288 17p11.2 nitric oxide synthase 2A (inducible, hepatocytes) pseudogene LOC220594 17p11.2 TL132 protein FLJ11800 17p11.2 hypothetical protein FLJ11800 LOC252840 17p11.1 signal recognition particle 68kD pseudogene
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