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FLASH GENE

Symbol

SYP

contributors: mct - updated : 13-11-2014

HGNC name	synaptophysin
HGNC id	11506

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003179 7 - 2449 NP_003170 34 313 - 2007 17562317

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine   duodenum Brunners gland   Homo sapiens Nervous brain forebrain cerebral cortex frontal cortex   Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Digestive goblet 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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