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FLASH GENE
Symbol SYP contributors: mct - updated : 13-11-2014
HGNC name synaptophysin
HGNC id 11506
DNA
TYPE functioning gene
STRUCTURE 12.40 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure 6 exons coding
MAPPING cloned Y linked Y status confirmed
Map pter - DXS8227 - DXS8224 - DXS8221 - DXS8225 - TFE3 - DXS576 - PLP2 - PRICKLE3 - SYP - DXS9795 - CACNA1F - DXS573 - DXS1331 - DXS1522 - DXS8223 - DXS8366 - DXS1426 - DXS1416 - DXS7471E - DXS7647 - DXS8222 - DXS6850 - DXS255 - cen
Physical map
TIMM17B Xp11.23 translocase of inner mitochondrial membrane 17 homolog B (yeast) PQBP1 Xp11.3 polyglutamine binding protein 1 SLC35A2 Xp11.23-p11.22 solute carrier family 35 (UDP-galactose transporter), member A2 PIM2 Xp11.3-p11.2 pim-2 oncogene DKFZp761A052 Xp11.23 hypothetical protein DKFZp761A052 KCND1 Xp11.23 potassium voltage-gated channel, Shal-related subfamily, member 1 GRIPAP1 Xp11 GRIP1 associated protein 1 TFE3 Xp11.23-p11.22 transcription factor binding to IGHM enhancer 3 JM11 Xp11.23 JM11 protein JM4 Xp11.23 JM11 protein JM5 Xp11.23 JM5 protein T54 Xp11.23 T54 protein FLJ21687 Xp11.23 PDZ domain containing, X chromosome PLP2 Xp11.23 proteolipid protein 2 (colonic epithelium-enriched) LMO6 Xp11.23-p11.22 LIM domain only 6 SYP Xp11.23-p11.22 synaptophysin CACNA1F Xp11.23 calcium channel, voltage-dependent, alpha 1F subunit LOC347348 Xp11.23 similar to Heat shock 27 kDa protein (HSP 27) (Stress-responsive protein 27) (SRP27) (Estrogen-regulated 24 kDa protein) (28 kDa heat shock protein) JM1 Xp11.23 JM1 protein FOXP3 Xp11.23 forkhead box P3 PPP1R3F Xp11.23 protein phosphatase 1, regulatory (inhibitor) subunit 3F LOC286408 Xp11.23 hypothetical LOC286408 LOC389855 X similar to G antigen 7
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 2449 34 313 - 2007 17562317
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestine duodenumBrunners gland  Homo sapiens
Nervousbrainforebraincerebral cortexfrontal cortex  Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Digestivegoblet Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text midgestation->adult
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four putative transmembrane segments (TM4)
  • intra-cytoplasm N and C termini
  • calcium-binding activity domain in the cytoplasmic tail
  • MARVEL-domain
  • mono polymer homomer , tetramer , hexamer
    HOMOLOGY
    Homologene
    FAMILY
  • synaptophysin/synaptobrevin family
  • MARVEL-domain family of integral membrane proteins
  • CATEGORY structural protein , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • integral synaptic vesicle (SV) protein
  • basic FUNCTION
  • may be involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane
  • involved in membrane apposition and vesicle-trafficking events
  • may be playing a role in fusion and recycling that is regulated by known interactions with the SNARE machinery
  • Ca2+ binding glycoprotein widely found in presynaptic membrane and vesicles
  • critical for regulating neurotransmitter release and synaptic plasticity, a process thought to be disrupted in schizophrenia
  • is potentially involved specifically in the response to a nocturnal light pulse occurring in the early night
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with VAMP2 (association of VAMP2 with synaptophysin I in the specification of the pathway of synaptic vesicle biogenesis)
  • SEPT8 suppresses the interaction between VAMP2 and synaptophysin (SYP) through binding to VAMP2
  • cell & other
    REGULATION
    Other regulated by REST
    ASSOCIATED DISORDERS
    corresponding disease(s) MRX96
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in mental retardation
    Susceptibility to attention deficit hyperactivity disorder
    Variant & Polymorphism SNP
  • associated to attention deficit hyperactivity disorder
  • interaction of MAOA and SYP may be involved in the genetic mechanism of ADHD-I subtype
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking Syp, a modulator of neurotransmitter release, are defective in delaying clock phase
  • from mice 9 months old on, a progressive decrease of the presence of SYP was found under Inner hair cells and outer (OHCs) hair cells rows starting at the basal coil and reaching the apical coil in the oldest mice