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FLASH GENE
Symbol ANKRD27 contributors: mct/npt - updated : 28-4-2021
HGNC name ankyrin repeat domain 27 (VPS9 domain)
HGNC id 25310
Location 19q13.11      Physical location : 33.087.906 - 33.166.102
Synonym name
  • VPS9-ankyrin-repeat protein
    • Synonym symbol(s) FLJ00040, PP12899, VARP, DKFZp434L0718
    DNA
    TYPE functioning gene
    STRUCTURE 78.20 kb     29 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 4461 - 1050 - 2006 16525121
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Lymphoid/Immunelymph node   highly
    Nervousbrainlimbic systemhippocampus   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a VPS9 domain
  • a RAB21-guanine nucleotide exchange factor (GEF) domain
  • ANK repeats (ANKR1-1 contains AAs 462–494; ANKR1-2 contains AAs 495–527; ANKR1-3 contains AAs 528–560; and ANKR1-4 contains AAs 561–596)
    • HOMOLOGY
    interspecies homolog to murine Ankrd27
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    text
  • ANKRD27, VAMP7 and RAB21 co-localize in the perinuclear region of differentiating hippocampal neurons and transiently in transport vesicles in the shaft of neurites
  • localizes to melanosomes by interaction with both VAMP7 and RAB38
    • basic FUNCTION
  • potential RAB21 guanine nucleotide exchange factor that might regulate endosome dynamics
  • can serves as both an effector and a guanine nucleotide exchange factor by interacting with different RABs in mammalian cells
  • functions as the RAB32/38 effector that controls trafficking of TYRP1 in melanocytes
  • is a positive regulator of neurite growth through both its GEF activity and its interaction with VAMP7
  • implicated in the regulation of trafficking of a melanogenic enzyme tyrosinase-related protein 1 (TYRP1) to melanosomes
  • functioning as a RAB32/38 effector in melanocytes and regulating TYRP1 trafficking to melanosomes
  • its RAB21-GEF activity and RAB32/38 binding activity of are required for different melanocyte functions
  • regulates endosomal trafficking, which underlies a variety of cellular events, including melanogenic enzyme trafficking to melanosomes, dendrite outgrowth of melanocytes, neurite outgrowth and retromer-mediated endosome-to-plasma membrane sorting of transmembrane proteins
  • ANKRD27and TBC1D5 are accessory/regulatory proteins of retromer-mediated retrograde trafficking from endosomes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts preferentially with GDP-bound RAB21 and has a much stronger guanine nucleotide exchange activity towards RAB21 than RAB5A
  • RAB38 is a ANKRD27-associated protein (physically interacts with RAB38, and preferentially binds to the active GTP-bound form of RAB38)
  • RAB38 effector, that might also be involved in targeting TYRP1 or/and tyrosinase to the melanosome for the synthesis of pigment
  • VAMP7 interacts with ANKRD27, a guanine nucleotide exchange factor (GEF) of the small GTPase RAB21, through a specific domain herein called the interacting domain (ID)
  • specifically binds two small GTPases, RAB32 and RAB38, which redundantly regulate the trafficking of melanogenic enzymes in mammalian epidermal melanocytes
  • ANKRD27-VAMP7 interaction is essential for the peripheral melanosomal distribution of TYRP1 in melanocytes
  • recruitment of ANKRD27 to the endosomal membrane is mediated by its direct interaction with VPS29, a subunit of the retromer complex, which is involved in trafficking from endosomes to the TGN and the cell surface
  • suppression of VPS35 led to mistrafficking of the melanogenic enzymes, tyrosinase and TYRP1, establishing that retromer acts in concert with ANKRD27 in this trafficking pathway
  • in addition to VAMP7, ANKRD27 binds to RAB32/38
  • HPS4 regulates recycling of VAMP7 from melanosomes, most likely by recruiting RAB38 and consequently ANKRD27 to initiate and/or complete tubule formation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS