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FLASH GENE
Symbol ZFYVE26 contributors: shn - updated : 03-01-2014
HGNC name zinc finger, FYVE domain containing 26
HGNC id 20761
Corresponding disease
SPG15 spastic paraplegia 15
Location 14q24.1      Physical location : 68.213.236 - 68.283.306
Synonym name
  • cDNA sequence, expressed in brain, >100kDa, related to murine Hrs
  • spastizin
  • Synonym symbol(s) KIAA0321, DKFZp686F066, DKFZp686F19106, DKFZp781H1112, SPG15, FYVE-CENT
    DNA
    TYPE functioning gene
    STRUCTURE 70.06 kb     42 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D14S981 - D14S125 - ZFYVE26 - D14S1069 - D14S1065 - tel
    Physical map
    LOC387993 14 hypothetical gene supported by BC033546 GPHN 14q23.1/14q23,3 gephyrin C14orf54 14 chromosome 14 open reading frame 54 LOC260329 14q23 splicing factor 3b, subunit 4, 49kD pseudogene MPP5 14q23.3 membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) ATP6V1D 14q23-q24.2 ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D EIF2S1 14q21.3 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa PLEK2 14q23.1-q23.2 pleckstrin 2 FLJ33387 14q24.1 hypothetical protein FLJ33387 PIGH 2p21-p16 phosphatidylinositol glycan, class H LOC390490 14 similar to Ac2-008 ARG2 14q24.1-q24.3 arginase, type II VTI1B 14q23,3 vesicle transport through interaction with t-SNAREs homolog 1B (yeast) COX7A3P 14 cytochrome c oxidase subunit VIIa polypeptide 3 pseudogene RDH11 14q23-q24.3 retinol dehydrogenase 11 (all-trans and 9-cis) RPL21P9 14q23.3 ribosomal protein L21 pseudogene 9 RDH12 14q23.3 retinol dehydrogenase 12 (all-trans and 9-cis) ZFYVE26 14q23.2-q24.2 zinc finger, FYVE domain containing 26 RAD51L1 14q24.1 RAD51-like 1 (S. cerevisiae) RPL7AP5 14 ribosomal protein L7a pseudogene 5 RPL12P7 14 ribosomal protein L12 pseudogene 7 ZFP36L1 14q22-q24 zinc finger protein 36, C3H type-like 1 MAGOHP 14 mago-nashi homolog, proliferation-associated pseudogene (Drosophila) BLZF2P 14q24.1 basic leucine zipper nuclear factor 2 pseudogene ACTN1 14q24.1 actinin, alpha 1 RPS29P1 14 ribosomal protein S29 pseudogene 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    42 - 9688 284.6 2539 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly Homo sapiens
     placenta   highly Homo sapiens
    Lymphoid/Immunethymus   highly Homo sapiens
    Nervousbrain   predominantly Homo sapiens
     spinal cord   moderately Homo sapiens
    Reproductivemale systemtestis  highly Homo sapiens
    Respiratorylung   highly Homo sapiens
    Visualeyeretina  highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one FYVE-type zinc finger domain
  • a putative zinc finger C2H2 and leucine zipper domains
  • predicted to have secondary structures containing alpha-solenoids
  • HOMOLOGY
    interspecies ortholog to Zfyve26, Mus musculus
    ortholog to Zfyve26, Rattus norvegicus
    ortholog to ZFYVE26, Pan troglodytes
    ortholog to zfyve26, Danio rerio
    Homologene
    FAMILY
  • FYVE-finger family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • localizes to the endosomal membrane traffic compartment, suggesting that the long axons of the corticospinal tract may be especially vulnerable to endosomal dysfunction
  • localizes on a late endosomal/lysosomal compartments
  • broadly expressed in neurons, associates with intracellular vesicles immunopositive for the early endosomal marker EEA1, and co-fractionates with a component of the AP5 complex
  • basic FUNCTION
  • may be playing a role in intracellular trafficking
  • involved in the abscission step during cytokinesis
  • important for proper development of the axons of spinal motor neurons
  • role in autophagy and required for autophagosome maturation
  • involved in the endolysosomal system
  • CELLULAR PROCESS cell cycle, division, mitosis
    PHYSIOLOGICAL PROCESS nervous system , cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • microtubule motor KIF13A and tetratricopeptide repeat domain 19, TTC19
  • KIAA0415
  • AP-5 subunits
  • Beclin 1, Vps34, Rubicon and UVRAG
  • cell & other phosphatidylinositol-3-phosphate (PtdIns(3)P)
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG15
    Susceptibility
  • atypical juvenile parkinsonism
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • SPG15 knock-down in zebrafish by morpholino antisense oligonucleotides lead to locomotor impairment and abnormal branching of spinal cord motor neurons at the neuromuscular junction
  • SPG15 knockdown causes the cation-independent mannose 6-phosphate receptor to become trapped in clusters of early endosomes as well as the tubulation of EEA1-positive endosomesof HeLa cellof HeLa cells
  • autophagy defects with autophagosome accumulation is observed also in neuronal cells upon spastizin silencing
  • Zfyve26 knockout mice develop late-onset spastic paraplegia with cerebellar ataxia, display axon degeneration and progressive loss of both cortical motoneurons and Purkinje cells in the cerebellum
  • an increase of Lamp1-positive membrane compartments with higher densities in Zfyve26 knockout mice