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FLASH GENE
Symbol SNPH contributors: mct - updated : 21-06-2013
HGNC name syntaphilin
HGNC id 15931
Location 20p13      Physical location : 1.246.959 - 1.289.969
Genatlas name syntaphilin selectively, expressed in brain, 72kDa, related to Fungus PUFF2/9.2 protein precursor
Synonym symbol(s) KIAA0374, MGC46096
DNA
TYPE functioning gene
STRUCTURE 43.01 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
SOX12 20p13 SRY (sex determining region Y)-box 12 C20orf98 20p13 chromosome 20 open reading frame 98 C20orf97 20p12.2-p13 chromosome 20 open reading frame 97 C20orf18 20p13 chromosome 20 open reading frame 18 C20orf140 20p13 chromosome 20 open reading frame 140 CSNK2A1 20p13 casein kinase 2, alpha 1 polypeptide TCF15 20p13 transcription factor 15 (basic helix-loop-helix) C20orf139 20p13 chromosome 20 open reading frame 139 LOC391226 20 similar to dJ850E9.1 (novel C2H2 type zinc finger protein similar to Drosophila Scratch (Scrt), Slug and Xenopus Snail) C20orf54 20p13 chromosome 20 open reading frame 54 RPS10L 20p13 ribosomal protein S10-like C20orf55 20p13 chromosome 20 open reading frame 55 ANGPT4 20p13 angiopoietin 4 LOC343637 20p13 similar to dJ824F16.3 (novel protein similar to mouse thrombospondin type 1 domain protein R-spondin) PSMF1 20p13-p12.2 proteasome (prosome, macropain) inhibitor subunit 1 (PI31) ACTGP3 20p13 actin, gamma pseudogene 3 C20orf46 20p13 chromosome 20 open reading frame 46 SNPH 20p13 syntaphilin SDCBP2 20p13 syndecan binding protein (syntenin) 2 FLJ20802 20p13 hypothetical protein FLJ20802 FKBP1A 20p13 FK506 binding protein 1A, 12kDa NSFL1C 20p13 NSFL1 (p97) cofactor (p47) PTPNS1L3 20p12.2-13 protein tyrosine phosphatase, non-receptor type substrate 1-like 3 PTPNS1L2 20p13 protein tyrosine phosphatase, non-receptor type substrate 1-like 2 SIRPB1 20p13 signal-regulatory protein beta 1 SIRPB2 20p13 signal-regulatory protein beta 2 LOC391227 20 similar to Signal-regulatory protein beta-2 precursor (SIRP-beta-2) (SIRP-b2) LOC388779 20 LOC388779 PTPNS1 20p13 protein tyrosine phosphatase, non-receptor type substrate 1 PDYN 20p13 prodynorphin RPL7P2 20p13 ribosomal protein L7 pseudogene 2 STK35 20 serine/threonine kinase 35
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 5026 - 494 - 2003 12896979
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
Nervousbrain   specific Homo sapiens
Respiratoryrespiratory tractlarynx  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to Fungus PUFF2/9.2 protein precursor
Homologene
FAMILY
CATEGORY regulatory , unknown/unspecified
SUBCELLULAR LOCALIZATION     plasma membrane,junction
    intracellular
intracellular,cytoplasm,organelle,mitochondria
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,cytoskeleton,microtubule
basic FUNCTION
  • protein precursor regulating synaptic vesicle exocytosis
  • neuron-specific protein, playing a role as a docking receptor of axonal mitochondria
  • required for maintaining a large portion of axonal mitochondria in stationary state through an interaction with the microtubule-based cytoskeleton
  • neuron-specific protein that likely plays an inhibitory role for presynaptic function
  • brain-specific syntaxin-binding partner first characterized as an inhibitor of SNARE complex formation and neurotransmitter release
  • inhibitor of both SNARE-based fusion and dynamin-mediated endocytosis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • endogenous syntaphilin-dynamin-1 complex exists independently of dynamin-1 binding to amphiphysin
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to dynamin-1 and through this interaction inhibits dynamin-mediated endocytosis
  • molecular clamp that controls free syntaxin-1 and dynamin-1 availability and thereby regulates synaptic vesicle exocytosis and endocytosis
  • targets to axonal mitochondria and controls their mobility through its static interaction with microtubules (MTs)
  • dynein light chain LC8 (DYNLL1) regulates axonal mitochondrial mobility by binding to SNPH, thus enhancing the SNPH-MT docking interaction (DYNLL1 regulates syntaphilin-mediated mitochondrial docking in axons)
  • cell & other
    REGULATION
    Phosphorylated by PRKACA (PRKACA phosphorylation could act as an "off" switch for SNPH, thus blocking its inhibitory function via the cAMP-dependent signal transduction pathway)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to infantile spasms (ISS)
    Variant & Polymorphism other
  • CNV associated with infantile spasms (ISS)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS