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FLASH GENE

Symbol

SYN1

contributors: mct/shn/pgu - updated : 24-06-2015

HGNC name	synapsin I
HGNC id	11494

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006950 13 splicing 3210 NP_008881 - 705 most abundant of all neuronal phosphoproteins enriched in synaptic vesicles 2004 15265868 transcript variant Ia NM_133499 13 splicing 3172 NP_598006 - 669 most abundant of all neuronal phosphoproteins enriched in synaptic vesicles 2004 15265868 transcript variant Ib

EXPRESSION

Type	restricted

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 Endocrine pancreas         Nervous brain           nerve         Visual eye

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three conserved domains of the family, the phosphorylated A domain at the N terminus,
	a central ATP-binding domain
	a C terminal E domain in SYN1a replaced by a F domain in SYN1b

conjugated

PhosphoP

HOMOLOGY

interspecies	ortholog to Syn1, Mus mussculus
	ortholog to Syn1, Rattus norvegicus

intraspecies

homolog to SYN2

Homologene

FAMILY

synapsin gene family

CATEGORY

regulatory , transport

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,vesicle
text	peripheral membrane of synaptic vesicles

basic FUNCTION	plays a role in regulation of axonogenesis and synaptogenesis
	implicated in synaptogenesis and the modulation of neurotransmitter release from adult nerve terminals
	role in regulation of axonogenesis and synaptogenesis
	implicated in neuronal development, synaptogenesis and maintenance of mature synapses
	playing a role during neuronal development and synapse formation
	neuron-specific phosphoprotein implicated in the regulation of neurotransmitter release and synaptogenesis
	can participate in the synaptic autism pathway, reflecting a disorder of regulation of a family of synaptic genes essential for activity-dependent changes in neuronal function
	is pivotal for maintaining synaptic vesicle cluster integrity and that it contributes to the regulated sharing of vesicles between terminals
	essential to maintain the dynamic structural organization of synapses and the size of the reserve pool of synaptic vesicles (SVs) during intense SV recycling
	plays a crucial role during axonogenesis and synaptogenesis as well as in synaptic transmission and plasticity of mature neurons
	neuronal phosphoprotein associated with the cytosolic surface of synaptic vesicles
	synapsin accumulates at sites of synaptic growth and facilitates budding of new boutons via a cAMP/PKA-dependent pathway

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

nervous system

text	vesicular transport

PATHWAY

metabolism

signaling

neurotransmission

synaptic transmission

a component

INTERACTION

DNA

RNA

small molecule

protein	synapsin II, SYN2 and synapsin III, SYN3
	Src homology 3 (SH3) domains of Grb2 and c-Src phospholipase C-gamma, p85 subunit of phosphatidylinositol 3-kinase, SH3 domains of amphiphysins I/II, Crk, alpha-spectrin, NADPH oxidase factor p47(phox)
	nNOS adapter protein, CAPON
	S100 calcium binding protein A1, S100A1 in the nerve terminals
	RAB3A, member RAS oncogene family, RAB3A
	SP1 can directly interact with SYN1 promoter and it plays an important role in promoting SYN1 transcription
	PRICKLE1 physically interactwith SYN1 via the SYN1 region mutated in ASD and epilepsy
	HAP1 interacts with SYN1, an abundant neuronal phosphoprotein that associates with synaptic vesicle (SV) during neurotransmitter release and regulates synaptic plasticity and neuronal development

cell & other

REGULATION

activated by

SP1 that is a fundamental activator of basal SYN1 gene expression, whose activity is modulated by the neural master regulator REST and CpG methylation

Phosphorylated by

CDK5, and this phosphorylation is physiologically regulated and enhances its binding to F-actin

Other

Ser(603) on SYN1 is alternatively phosphorylated by PAKs, not only by CaMKII, in neuronal cells in response to some stimulants

ASSOCIATED DISORDERS

corresponding disease(s)

ELDX

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function impaired SYN1 function is associated with hyperexcitability of the temporoinsular network and disturbance of high mental functions such as language and social interaction

Susceptibility

to lupus erythematosus to autism spectrum disorders with epilepsy or not

Variant & Polymorphism other	Q555X mutation associated to autism spectrum disorders with epilepsy or not

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	synapsin I-deficient mice display a severely retarded outgrowth of predendritic neurites, synapse formation and axons of hippocampal neurons
	Synapsin knock-out (Syn1(-/-) ) mice display an epileptic phenotype