SYN1 synapsin I [Homo sapiens (human)] - Gene

Summary

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Official Symbol: SYN1provided by HGNC
Official Full Name: synapsin Iprovided by HGNC
Primary source: HGNC:11494
Locus tag: RP1-230G1.2
See related: Ensembl:ENSG00000008056; HPRD:02433; MIM:313440; Vega:OTTHUMG00000021454
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SYNI; SYN1a; SYN1b
Summary: This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: Xp11.23

Sequence :: Chromosome: X; NC_000023.10 (47431300..47479256, complement)

See SYN1 in Epigenomics, MapViewer

Chromosome X - NC_000023.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

A conserved region of human and mouse SYN1 promoters contains cis-sites for the transcriptional activator Sp1 in close proximity to REST binding motifs.
Title: Specificity protein 1 (Sp1)-dependent activation of the synapsin I gene (SYN1) is modulated by RE1-silencing transcription factor (REST) and 5'-cytosine-phosphoguanine (CpG) methylation.
The allelic frequencies of SYN1 are associated with Korean female schizophrenia.
Title: The C allele of synonymous SNP (rs1142636, Asn170Asn) in SYN1 is a risk factor for the susceptibility of Korean female schizophrenia.
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Title: SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
the nucleocytoplasmic shuttling of dysbindin-1 regulates synapsin I expression and thus may be involved in the pathogenesis of schizophrenia.
Title: Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression.
The authors propose claudin-2 and SYN1 work in concert to enhance microbial translocation across the intestinal epithelial barrier to contribute to chronic immune activation and CD4 T-cell depletion in HIV-1-infected patients.
Title: A role for syndecan-1 and claudin-2 in microbial translocation during HIV-1 infection.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
This study concluded that the human synapsin I gene is positively regulated by nuclear respiratory factor 1 and mediates the function of nuclear respiratory factor 1 in neurite outgrowth.
Title: Human synapsin I mediates the function of nuclear respiratory factor 1 in neurite outgrowth in neuroblastoma IMR-32 cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Synapsins and S100A1 interact in nerve terminals where coexpresssed; S100A1 cannot bind SV-associated synapsin I and may function as a cytoplasmic store of monomeric synapsin I; synapsin dimerization and interaction with S100A1 are mutually exclusive
Title: S100A1 codistributes with synapsin I in discrete brain areas and inhibits the F-actin-bundling activity of synapsin I.
The results showed that synapsin I was significantly decreased in the stratum radiatum of CA1 subfield and the molecular layer of DG in AD patients.
Title: Regional alteration of synapsin I in the hippocampal formation of Alzheimer's disease patients.

Submit: New GeneRIF Correction See all (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Epilepsy, X-linked, with variable learning disabilities and behavior disorders

MIM: 300491

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P17600	P49418	AMPH	HPRD	PubMed
P17600	O00499	BIN1	HPRD	PubMed
P17600	Q14012	CAMK1	HPRD	PubMed
P17600	Q13555	CAMK2G	HPRD	PubMed
P17600	Q00535	CDK5	HPRD	PubMed
P17600	P46108	CRK	HPRD	PubMed
P17600	P62993	GRB2	HPRD	PubMed
P17600	Q92993	KAT5	HPRD	PubMed
P17600	P27361	MAPK3	HPRD	PubMed
P17600	P14598	NCF1	HPRD	PubMed
P17600	O75052	NOS1AP	HPRD	PubMed
P17600	Q13153	PAK1	HPRD	PubMed
P17600	Q13177	PAK2	HPRD	PubMed
P17600	O75914	PAK3	HPRD	PubMed
P17600	P35080	PFN2	HPRD	PubMed
P17600	P27986	PIK3R1	HPRD	PubMed
P17600	P19174	PLCG1	HPRD	PubMed
P17600	P17612	PRKACA	HPRD	PubMed
P17600	P20936	RASA1	HPRD	PubMed
P17600	P23297	S100A1	HPRD	PubMed
P17600	Q13813	SPTAN1	HPRD	PubMed
P17600	P12931	SRC	HPRD	PubMed
P17600	P17600	SYN1	HPRD	PubMed
P17600	Q92777	SYN2	HPRD	PubMed
P17600	O14994	SYN3	HPRD	PubMed
P17600	P08670	VIM	HPRD	PubMed
BioGRID:112719	BioGRID:106770	AMPH	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112719	BioGRID:106771	BIN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112719	BioGRID:107110	BLM	BioGRID	PubMed	Two-hybrid
BioGRID:112719	BioGRID:107788	CRK	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112719	BioGRID:108021	DDX5	BioGRID	PubMed	Co-fractionation
BioGRID:112719	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:112719	BioGRID:119098	ITSN2	BioGRID	PubMed	Two-hybrid
BioGRID:112719	BioGRID:115779	KAT5	BioGRID	PubMed	Two-hybrid
BioGRID:112719	BioGRID:575724	NCF1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112719	BioGRID:110905	NOS1	BioGRID	PubMed	Reconstituted Complex
BioGRID:112719	BioGRID:115071	NOS1AP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:112719	BioGRID:111105	PARK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112719	BioGRID:111313	PIK3R1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112719	BioGRID:111856	RASA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112719	BioGRID:112353	SH3GL2	BioGRID	PubMed	Reconstituted Complex
BioGRID:112719	BioGRID:112506	SNCA	BioGRID	PubMed	Protein-peptide
BioGRID:112719	BioGRID:112592	SRC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112719	BioGRID:119626	SRRT	BioGRID	PubMed	Co-fractionation
BioGRID:112719	BioGRID:112719	SYN1	BioGRID	PubMed	Two-hybrid
BioGRID:112719	BioGRID:112720	SYN2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:112719	BioGRID:113272	VIM	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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BDNF signaling pathway, organism-specific biosystem (from WikiPathways)
BDNF signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
Dopamine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
Dopamine Neurotransmitter Release Cycle, organism-specific biosystemDopamine neurotransmitter cycle occurs in dopaminergic neurons. Dopamine is synthesized and loaded into the clathrin sculpted monoamine transport vesicles. The vesicles are docked, primed and fused w...
Monoamine Transport, organism-specific biosystem (from WikiPathways)
Monoamine Transport, organism-specific biosystem
Monoamine Transport
Neuronal System, organism-specific biosystem (from REACTOME)
Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
Serotonin Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
Serotonin Neurotransmitter Release Cycle, organism-specific biosystemSerotonin is synthesized in the serotonergic neurons in the central nervous system and the enterochrommaffin cells of the gastroinetstinal system. Serotonin is loaded into the clathrin sculpted monoa...
Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

General gene information

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Markers

STS-L24038 (e-PCR)
- UniSTS:48135

AL023622 (e-PCR)
- UniSTS:68642

STS-M58378 (e-PCR)
- UniSTS:11300

STS-AA001911 (e-PCR)
- UniSTS:74040

RH93525 (e-PCR)
- UniSTS:85565

STS-M13829 (e-PCR)
- UniSTS:72051

GDB:192509 (e-PCR)
- UniSTS:98973

WI-6972 (e-PCR)
- UniSTS:18142

RH79877 (e-PCR)
- UniSTS:89581

SGC30176 (e-PCR)
- UniSTS:47359

Genotypes

See SYN1 SNP Geneview Report
See SYN1 SNP Genotype Report
See SYN1 SNP Variation Viewer Report

Homology

Homologs of the SYN1 gene: The SYN1 gene is conserved in dog, cow, mouse, rat, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
actin binding	IEA Inferred from Electronic Annotation more info
catalytic activity	IEA Inferred from Electronic Annotation more info
transporter activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
neurotransmitter secretion	IEA Inferred from Electronic Annotation more info
synaptic transmission	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
cell junction	IEA Inferred from Electronic Annotation more info
cytosol	IEA Inferred from Electronic Annotation more info
dendrite	IEA Inferred from Electronic Annotation more info
presynaptic active zone	IEA Inferred from Electronic Annotation more info
synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
synaptonemal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: synapsin-1

Names: synapsin-1; brain protein 4.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008437.1 RefSeqGene

Range

5001..52957

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006950.3 → NP_008881.2 synapsin-1 isoform Ia

Status: REVIEWED

Description

Transcript Variant: This variant (Ia) represents the longer transcript, and encodes the longer isoform (Ia). This isoform (Ia) contains a distinct domain E, as compared to isoform Ib.

Source sequence(s)

AI929645, BC036711, BC048799, Z84466

Consensus CDS

CCDS14280.1

UniProtKB/Swiss-Prot

P17600

Related

ENSP00000295987, OTTHUMP00000023229, ENST00000295987, OTTHUMT00000056445

Conserved Domains (4) summary

COG0189
Location:124 – 421
Blast Score: 117

RimK; Glutathione synthase/Ribosomal protein S6 modification enzyme (glutaminyl transferase) [Coenzyme metabolism / Translation, ribosomal structure and biogenesis]

pfam02078
Location:115 – 212
Blast Score: 512

Synapsin; Synapsin, N-terminal domain

pfam02750
Location:214 – 416
Blast Score: 1112

Synapsin_C; Synapsin, ATP binding domain

pfam10581
Location:1 – 27
Blast Score: 154

Synapsin_N; Synapsin N-terminal
NM_133499.2 → NP_598006.1 synapsin-1 isoform Ib

Status: REVIEWED

Description

Transcript Variant: This variant (Ib) utilizes an alternative splice acceptor site in terminal exon compared to variant Ia, resulting in the lack of an internal segment and a frameshift. This variant encodes isoform Ib, which contains a shorter carboxyl terminus and a distinct domain F, as compared to isoform Ia.

Source sequence(s)

AI929645, BC036711, BC048799

Consensus CDS

CCDS35233.1

UniProtKB/Swiss-Prot

P17600

Related

ENSP00000343206, OTTHUMP00000023230, ENST00000340666, OTTHUMT00000056446

Conserved Domains (4) summary

COG0189
Location:124 – 421
Blast Score: 117

RimK; Glutathione synthase/Ribosomal protein S6 modification enzyme (glutaminyl transferase) [Coenzyme metabolism / Translation, ribosomal structure and biogenesis]

pfam02078
Location:115 – 212
Blast Score: 510

Synapsin; Synapsin, N-terminal domain

pfam02750
Location:214 – 416
Blast Score: 1106

Synapsin_C; Synapsin, ATP binding domain

pfam10581
Location:1 – 27
Blast Score: 157

Synapsin_N; Synapsin N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000023.10 Reference GRCh37.p10 Primary Assembly

Range

47431300..47479256, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

45143520..45192091, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018934.1 Alternate CHM1_1.0

Range

47350806..47398823, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01052379.1 (5110..10462)	None
genomic	ABBA01052380.1	None
genomic	ABBA01052381.1	None
genomic	ABBA01052382.1	None
genomic	ABBA01052383.1	None
genomic	ABBA01052384.1	None
genomic	ABBA01052385.1	None
genomic	ABBA01052386.1	None
genomic	ABBA01052387.1 (15..1867)	None
genomic	AL009172.1 (100..15982)	None
genomic	AMYH01022263.1 (58354..60802)	None
genomic	AMYH01022264.1	None
genomic	CH471164.1	EAW59313.1
		EAW59314.1
genomic	M55301.1	AAA60608.1
genomic	M58321.1	AAC41931.1
genomic	M58341.1	AAC41930.1
genomic	M58351.1	AAC41930.1
genomic	M58353.1	AAC41930.1
genomic	M58359.1	AAC41930.1
genomic	M58371.1	AAC41930.1
genomic	M58372.1	AAC41930.1
genomic	M58373.1	AAC41930.1
genomic	M58374.1	AAC41930.1
genomic	M58375.1	AAC41930.1
genomic	M58376.1	AAC41930.1
genomic	M58377.1	AAC41930.1
genomic	M58378.1	AAC41930.1
		AAC41931.1
mRNA	AI929645.1	None
mRNA	AL833961.1	None
mRNA	BC036711.2	None
mRNA	BC048799.1	None