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FLASH GENE
Symbol AFTPH contributors: mct/npt - updated : 26-06-2008
HGNC name aftiphilin
HGNC id 25951
Location 2p14      Physical location : 64.751.438 - 64.820.131
Synonym name putative protein product of Nbla10388
Synonym symbol(s) MGC33965, FLJ20080, FLJ23793, Nbla10388, AFTH
DNA
TYPE functioning gene
STRUCTURE 68.00 kb     10 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 4109 - 936 - -
9 - 4028 - 909 - Beausoleil (2006)
9 - 4025 - 908 - Beausoleil (2006)
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivepharynx   highly
Lymphoid/Immunetonsils   highly
Nervousbrain   predominantly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • binding motifs for the gamma-ear domain GAE of clathrin adaptor protein 1 (AP-1)
  • a second, atypical clathrin binding site, YQW, colocalizing with AP-1 and enriched in clathrin-coated vesicles
  • eight GAE
  • a core tetrapeptide motif PsiG(P/D/E)(Psi/L/M) (where Psi is an aromatic residue), responsible for the interactions of accessory proteins with GAE domains
  • two WXXF-acidic motifs mediating binding to the alpha-ear AP-2
  • three FXXFXXF/L motifs mediating binding to the alpha- and beta2-ear
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • may be playing a role in clathrin-mediated trafficking in neurons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • aftiphilin/p200/gamma-synergin complex facilitates AP-1 function, but the complex may have additional functions as well, because of the opposing effects of the two knockdowns on transferrin recycling
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS