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FLASH GENE
Symbol ANKFY1 contributors: mct - updated : 31-10-2012
HGNC name ankyrin repeat and FYVE domain containing 1
HGNC id 20763
Location 17p13.2      Physical location : 4.066.666 - 4.167.274
Synonym name
  • ankyrin repeats hooked to a zinc finger motif
  • rabankyrin-5
  • Synonym symbol(s) KIAA1255, ANKHZN, ZFYVE14, DKFZp686M19106, RANK-5
    DNA
    TYPE functioning gene
    STRUCTURE 100.61 kb     25 Exon(s)    1 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 splicing 7959 127.9 1169 - 2000 10940552
    - splicing 1904 - 487 - 2000 10940552
  • having a distinct 3' UTR and 3' coding region
  • lacking the FYVE-finger motif
  • 25 - 8161 - 1211 - 2000 10940552
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   predominantly
    Urinarykidneytubuleconvoluted tubuleproximal tubule  Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificfibroblast Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a coiled-coil structure
  • a BTB/POZ domain at its N-terminus
  • ankyrin repeats in the middle portion
  • a NPFED motif
  • a FYVE-finger motif at its C-terminus
  • HOMOLOGY
    interspecies ortholog to murine Ankhzn
    Homologene
    FAMILY
  • a subgroup of double zinc finger proteins
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    text
  • to large vacuolar structures that correspond to macropinosomes in epithelial cells and fibroblasts
  • basic FUNCTION
  • may be involved in vesicle or protein transport
  • active role in apical pinocytosis in epithelial cells, suggesting an important function in the physiology of polarised cells
  • implicated as an effector of the small GTPase RAB5 and plays an important role in macropinocytosis
  • required for normal retromer distribution, as overexpression of a wild-type ANKFY1-small interfering RNA-resistant construct rescues retromer mislocalization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • PI(3)P-binding RAB5A effector, Rabankyrin-5, which localises to early endosomes and stimulates their fusion activity
  • RAB5A regulates and coordinates different endocytic mechanisms through its effector ANKFY1
  • interaction partner for the recycling regulatory protein EHD1
  • colocalizes and interacts with components of the retromer complex such as vacuolar protein sorting 26 (VPS26A), suggesting a role for ANKFY1 in retromer-based transport
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS