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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SYN1 Gene

protein-coding GIFtS: 66
GCID: GC0XM047431

synapsin I

Explore 12 diseases affiliated with
SYN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Synapsin I¹ ² ³
Brain Protein 4.1² ³
SYN1a²
SYN1b²
SYNI²
Synapsin-1¹

External Ids:	HGNC: 11494¹	Entrez Gene: 6853²	Ensembl: ENSG00000008056⁷	OMIM: 313440⁵	UniProtKB: P17600³

Export aliases for SYN1 gene to outside databases

Previous GC identifers: GC0XM046235 GC0XM045692 GC0XM046478 GC0XM046477 GC0XM047187 GC0XM047316 GC0XM045143

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SYN1:

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)

UniProtKB/Swiss-Prot: SYN1_HUMAN, P17600

Function: Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function

in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for

specific nitric-oxid functions at a presynaptic level

Gene Wiki entry for SYN1 (Synapsin I)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_079573.4

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SYN1 gene promoter:
CREB Sp1 deltaCREB NRSF form 1 NRSF form 2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SYN1 promoter sequence

Search SABiosciences Chromatin IP Primers for SYN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SYN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.23 Ensembl cytogenetic band: Xp11.23 HGNC cytogenetic band: Xp11.2

SYN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SYN1 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM047431: view genomic region (about GC identifiers)

Start:	47,431,300 bp from pter	End:	47,479,256 bp from pter
Size:	47,957 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SYN1_HUMAN, P17600 (See protein sequence)

Recommended Name: Synapsin-1

Size: 705 amino acids; 74111 Da

Subunit: Homodimer. Interacts with CAPON. Forms a ternary complex with NOS1. Isoform Ib interacts with PRNP (By

similarity)

Subcellular location: Cell junction, synapse. Golgi apparatus (By similarity)

Secondary accessions: B1AJQ1 O75825 Q5H9A9

Alternative splicing: 2 isoforms: P17600-1 P17600-2

Explore the universe of human proteins at neXtProt for SYN1: NX_P17600

Post-translational modifications:

Substrate of at least four different protein kinases. It is probable that phosphorylation plays a role in the

regulation of synapsin-1 in the nerve terminal¹

Phosphorylation at Ser-9 dissociates synapsins from synaptic vesicles (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P17600

SYN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_008881.2 NP_598006.1

ENSEMBL proteins:

ENSP00000295987 ENSP00000343206

Reactome Protein details: P17600
Human Recombinant Protein Products:

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	Novus Biologicals SYN1 Protein Novus Biologicals SYN1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SYN1

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000795	synaptonemal complex	IEA	--
GO:0005625	soluble fraction	--	--
GO:0005794	Golgi apparatus	IEA	--
GO:0005829	cytosol	IEA	--
GO:0008021	synaptic vesicle	--	--

SYN1 for ontologies About GeneDecksing

SYN1 Antibody Products:

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	Uscn Antibodies for SYN1
	ThermoFisher Antibody for SYN1

Assay Products for SYN1:

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	GenScript Custom Assay Services for SYN1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SYN1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SYN1 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR019735 Synapsin_CS

IPR020898 Synapsin_ATP-bd_dom

IPR013815 ATP_grasp_subdomain_1

IPR020897 Synapsin_pre-ATP-grasp_dom

IPR019736 Synapsin_P_site

Graphical View of Domain Structure for InterPro Entry P17600

ProtoNet protein and cluster: P17600

1 Blocks protein family: IPB001359 Synapsin

UniProtKB/Swiss-Prot: SYN1_HUMAN, P17600

Domain: The A region binds phospholipids with a preference for negatively charged species (By similarity)

Similarity: Belongs to the synapsin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SYN1_HUMAN, P17600

Function: Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function

in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for

specific nitric-oxid functions at a presynaptic level

Genatlas biochemistry entry for SYN1:

synapsin I,synaptic vesicle associated phosphoprotein,involved in the fine regulation of neurotransmitter release

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SYN1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SYN1
		8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate SYN1 (see all 24):
		hsa-miR-448 hsa-miR-539 hsa-miR-1914* hsa-miR-513c hsa-miR-197 hsa-miR-4314 hsa-miR-3131 hsa-miR-3170

		SwitchGear 3'UTR luciferase reporter plasmid: SYN1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SYN1 (see all 7) OriGene shRNA RFP: SYN1 OriGene siRNA: SYN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYN1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SYN1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SYN1 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SYN1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SYN1 (NM_133499)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYN1
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SYN1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SYN1
		Search LifeMap BioReagents cell lines for SYN1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYN1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0003824	catalytic activity	IEA	--
GO:0005215	transporter activity	TAS	2110562
GO:0005515	protein binding	--	--
GO:0005524	ATP binding	IEA	--

SYN1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SYN1:

Increased HPV18 LCR reporter a

Animal Models:
Mouse knock-outs for SYN1: Syn1^tm1Noh Syn1^tm1Sud Syn1^tm1Lli
2 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Syn1):

behavior/neurological

nervous system

SYN1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Serotonin Neurotransmitter Release Cycle

Serotonin Neurotransmitter Release Cycle

1.00

Dopamine Neurotransmitter Release Cycle

1.00

Transmission across Chemical Synapses

Transmission across Chemical Synapses

1.00

Neuronal System

0.67

Neuroscience

Neuroscience

1.00

Synaptic Vesicle Pathway

Synaptic Vesicle Pathway

1.00

Monoamine Transport

Monoamine Transport

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for SYN1

Neuroscience

2 BioSystems Pathways for SYN1

	Monoamine Transport
	Synaptic Vesicle Pathway

5 Reactome Pathways for SYN1

	Dopamine Neurotransmitter Release Cycle
	Transmission across Chemical Synapses
	Neurotransmitter Release Cycle
	Neuronal System
	Serotonin Neurotransmitter Release Cycle

SYN1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SYN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/48 Interacting proteins for SYN1 (P17600^{2, 3} ENSP00000295987⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 48)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
VIM	P08670²^,³, ENSP00000224237⁴	MINT-63519 I2D: score=5 STRING: ENSP00000224237
KAT5	Q92993²^,³, ENSP00000340330⁴	MINT-63520 I2D: score=5 STRING: ENSP00000340330
BIN1	O00499³, ENSP00000316779⁴	I2D: score=3 STRING: ENSP00000316779
CRK	P46108³, ENSP00000300574⁴	I2D: score=3 STRING: ENSP00000300574
PIK3R1	P27986³, ENSP00000274335⁴	I2D: score=3 STRING: ENSP00000274335

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	--	--
GO:0007268	synaptic transmission	TAS	2110562
GO:0007269	neurotransmitter secretion	IEA	--

SYN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SYN1

1 DrugBank Compound for SYN1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Adenosine-5'-Diphosphate Monothiophosphate	--	--	target	--	17139284 17016423 10592235

Search CenterWatch for drugs/clinical trials and news about SYN1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SYN1 gene (2 alternative transcripts):

NM_006950.3 NM_133499.2

Unigene Cluster for SYN1:

Synapsin I

Hs.225936 [show with all ESTs]

Unigene Representative Sequence: BC048799

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000295987(uc004die.3) ENST00000340666(uc004did.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SYN1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SYN1
		8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate SYN1 (see all 24):
		hsa-miR-448 hsa-miR-539 hsa-miR-1914* hsa-miR-513c hsa-miR-197 hsa-miR-4314 hsa-miR-3131 hsa-miR-3170

		SwitchGear 3'UTR luciferase reporter plasmid: SYN1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SYN1 (see all 7) OriGene shRNA RFP: SYN1 OriGene siRNA: SYN1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYN1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SYN1 (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SYN1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SYN1 (NM_133499)
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		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SYN1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SYN1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYN1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SYN1

Additional cDNA sequence:

AL833961.1 BC036711.2 BC048799.1

4 DOTS entries:

DT.95274742 DT.92426489 DT.121285014 DT.100751084

24/82 AceView cDNA sequences (see all 82):

BC036711 AI342002 AA904128 BQ021547 BM052938 NM_133499 AL833961 NM_006950

BC048799 BX409809 CA392823 BX409808 AA321798 H20397 D55951 BM666243

BM702792 BQ717076 BV200732 BM925954 AW139802 BQ686290 BI917029 BU145716

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SYN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATCTTCCAT

About this image

SYN1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Retina

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Matured motor neuron-like cells (Spinal motor neurons...)

See SYN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SYN1

SOURCE GeneReport for Unigene cluster: Hs.225936

SABiosciences Expression via Pathway-Focused PCR Array including SYN1:

Huntington's Disease in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SYN1 Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYN1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SYN1 gene from 7/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Syn1^{1 , 5}	synapsin I^{1, 5}	89.93(n)¹ 96.31(a)¹		X (16.37 cM)⁵ 20964¹ NM_013680.4¹ NP_038708.3¹ 20860511⁵
chicken (Gallus gallus)	Aves	SYN1⁶	Uncharacterized protein	74(a)	1 ↔ 1	12(4865746-5008447)
lizard (Anolis carolinensis)	Reptilia	-- --	--	78(a) 58(a)	many → 1 many → 1	2(68242354-68257534) 2(68138387-68157352)
African clawed frog (Xenopus laevis)	Amphibia	Xl.21531²	Xenopus laevis synapsin I (SYN I) mRNA, partial cds	84.45(n)		AF192751.1
zebrafish (Danio rerio)	Actinopterygii	syn1¹	synapsin I	66(n) 68(a)		570672 NM_001126437.2 NP_001119909.1
fruit fly (Drosophila melanogaster)	Insecta	Syn³	neurotransmitter secretion	44(a)		--
worm (Caenorhabditis elegans)	Secernentea	snn-1⁶	SyNapsiN family member (snn-1)	25(a)	1 → many	IV(1805036-1815098)

ENSEMBL Gene Tree for SYN1 (if available)
TreeFam Gene Tree for SYN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SYN1 gene

SYN3²

3 SIMAP similar genes for SYN1 using alignment to 1 protein entry: SYN1_HUMAN:

syn2 SYN2 SYN3

SYN1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs190100386^1,2		--	47431959(+)	`AAAACA/GCCCTC`	2	--	ut3¹		0	--	--	--	--
rs181776323^1,2		--	47432054(+)	`AAAAGG/TACTTG`	2	--	ut3¹		0	--	--	--	--
rs113373259^1,2		--	47432120(+)	`GTACTT/CGGGGA`	2	--	ut3¹		1		CSA	1
rs142521876^1,2		--	47432152(+)	`ATCTTA/GGAGAA`	2	--	ut3¹		0	--	--	--	--
rs188553502^1,2	C,	--	47432215(+)	`TCAGGG/TCCCAG`	2	--	ut3¹		0	--	--	--	--
rs201459097^1,2		--	47432420(+)	`TGGAGA/GCGTGG`	2	--	int¹		0	--	--	--	--
rs723556^1,2	C,F,A,H,	--	47432747(-)	`GAAACC/TTCCCT`	2	--	int¹		22		MN NS EA NA WA CSA	2349
rs201236500^1,2		--	47433412(+)	`TGGGGA/GTGCGG`	4	H	syn¹		0	--	--	--	--
rs199844514^1,2		--	47433415(+)	`GGGTGC/TGGAGG`	4	P	syn¹		0	--	--	--	--
rs181052661^1,2		--	47434394(+)	`AACAAC/TTGGCA`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SYN1 (47431300 - 47479256 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for SYN1
1 CNV: 96637
3 Indels: 83490 96639 96638
Human Gene Mutation Database (HGMD): SYN1

Locus Specific Mutation Databases (LSDB): SYN1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SYN1

DNA2.0 Custom Variant and Variant Library Synthesis for SYN1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SYN1 for disorders           About GeneDecksing

OMIM gene information: 313440
OMIM disorders: 300491
UniProtKB/Swiss-Prot: SYN1_HUMAN, P17600

Defects in SYN1 are a cause of epilepsy X-linked with variable learning disabilities and behavior disorders

(XELBD) [MIM:300491]. XELBD is characterized by variable combinations of epilepsy, learning difficulties,

macrocephaly, and aggressive behavior

12 diseases for SYN1: About MalaCards

epilepsy, x-linked, with variable learning disabilities and behavior disorders learning disability rett syndrome toxic encephalopathy

neuronitis neuroendocrine tumor tetanus huntington's disease

parkinson's disease alzheimer's disease cerebritis neuroblastoma

Genetic Association Database (GAD): SYN1
Human Genome Epidemiology (HuGE) Navigator: SYN1 (4 documents)

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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SYN1 gene, integrated from 9 sources (see all 56):
(articles sorted by number of sources associating them with SYN1)

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The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
Phosphoproteomic analysis of synaptosomes from human cerebral cortex. (PubMed id 15822905)^{1, 2} DeGiorgis J.A.... Dosemeci A. (2005)
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. (PubMed id 14985377)^{1, 2} Garcia C.C.... Goodship J.A. (2004)
The 5'-flanking region of the synapsin I gene. A G+C-rich, TATA- and CAAT-less, phylogenetically conserved sequence with cell type-specific promoter function. (PubMed id 2118519)^{1, 2} Sauerwald A.... Kilimann M.W. (1990)
The structure of the human synapsin I gene and protein. (PubMed id 2110562)^{1, 2} Suedhof T.C. (1990)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
The C allele of synonymous SNP (rs1142636, Asn170Asn) in SYN1 is a risk factor for the susceptibility of Korean female schizophrenia. (PubMed id 22807112)¹ Yu G.I....Shin D.H. (2012)
Intersectin (ITSN) family of scaffolds function as mol ecular hubs in protein interaction networks. (PubMed id 22558309)¹ Wong K.A....O'Bryan J.P. (2012)
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. (PubMed id 21441247)¹ Fassio A....Cossette P. (2011)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6853	HGNC: 11494	AceView: SYN1	Ensembl:ENSG00000008056	euGenes: HUgn6853
ECgene: SYN1	H-InvDB: SYN1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SYN1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SYN1

Intellectual Property for SYN1 gene
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Patent Information for SYN1 gene:
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