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FLASH GENE
Symbol ZFYVE27 contributors: shn - updated : 11-10-2013
HGNC name zinc finger, FYVE domain containing 27
HGNC id 26559
Corresponding disease
SPG33 spastic paraplegia 33
Location 10q24.2      Physical location : 99.496.877 - 99.520.663
Synonym name
  • protrudin
  • Synonym symbol(s) RP11-459F3.2, FLJ32919, SPG33
    DNA
    TYPE functioning gene
    STRUCTURE 23.79 kb     13 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map cen -D10S1758 - D10S1709 - ZFYVE27 - D10S1726 - D10S198 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 splicing 2776 - 318 - -
    13 splicing 3059 - 411 - -
    11 splicing 2938 - 372 - -
    9 splicing 2680 - 286 - -
    10 splicing 2780 - 311 - -
    12 splicing 3038 - 404 - -
    12 splicing 2869 - 416 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     intestinelarge intestinecolon  
    Lymphoid/Immunethymus   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a FYVE (lipid-binding) domain
  • a Rab11-binding domain
  • a short sequence motif designated FFAT
  • an hydrophobic region HR3
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Zfyve27, Mus musculus
    ortholog to Zfyve27, Rattus norvegicus
    Homologene
    FAMILY FYVE-finger family
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text punctate vesicles PubMed:16826525
    basic FUNCTION
  • a key regulator of vesicular transport during neurite extension
  • involved in neuronal intracellular trafficking in the corticospinal tract (regulator of the endocytic membrane trafficking)
  • promoted neurite formation through interaction with the guanosine diphosphate (GDP)-bound form of Rab11
  • facilitates the interaction of KIF5 with Rab11, VAP-A and -B, Surf4, and RTN3, thus serves as an adaptor protein and the protrudin-KIF5 complex contributes to the transport of these proteins in neurons
  • protrudin-FYVE domain is critical for its cellular localization and its role in neurite outgrowth
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text neurite formation
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • ion Zn2+
  • phosphatidylinositol 3-phosphate lipid moiety
  • protein
  • spastin
  • RAB11-GDP
  • vesicle-associated membrane protein-associated protein, VAP-A
  • KIF5
  • ZFYVE27
  • ZFYVE27 interact with other hereditary spastic paraplegia-related proteins including myelin proteolipid protein 1 (SPG2), atlastin-1 (SPG3A), REEP1, REEP5 (similar to REEP1), KIF5A, KIF5B, KIF5C
  • cell & other
    REGULATION
    Other phosphorylated by ERK, promoting the association with RAB11-GDP
    regulated by vesicle-associatedmembrane protein-associated protein A, VAPA
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG33
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation      
  • a missense mutation of ZFYVE27 affects neuronal intracellular trafficking in the cortical spinal tract
  • the resulting protein with a G191V subsitution shows an aberrant untracellular pattern in tubular structures, affecting its interaction with spastin
  • Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • cells expressing ZFYVE27(&
  • 916;HR3) failed to produce protrusions instead caused swelling of cell soma
  • Protrudin mutants with reduced PtdInsP-binding affinity failed to promote neurite outgrowth in primary rat cultured hippocampal neuron