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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
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