O14994

※ Protein Information

Tag	Content
UniProt Accession	SYN3_HUMAN; O14994;
Entrez ID	8224
GenBank Protein ID	NM_003490.3; NM_133633.2; XM_011530405.2; XM_011530406.2; XM_011530407.2; XM_011530408.1; XM_017028960.1; XM_017028961.1; XM_017028962.1; XM_017028963.1;
GenBank Nucleotide ID	NP_003481.3; NP_598344.2; XP_011528707.1; XP_011528708.1; XP_011528709.1; XP_011528710.1; XP_016884449.1; XP_016884450.1; XP_016884451.1; XP_016884452.1;
Protein Name	Synapsin-3 (Synapsin III)
Gene Name	SYN3
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	May be involved in the regulation of neurotransmitter release and synaptogenesis. Functional Description May be involved in the regulation of neurotransmitter release and synaptogenesis.
Sequence (Fasta)	MNFLRRRLSD SSFMANLPNG YMTDLQRPDS STSSPASPAM ERRHPQPLAA SFSSPGSSLF 60 SSLSSAMKQA PQATSGLMEP PGPSTPIVQR PRILLVIDDA HTDWSKYFHG KKVNGEIEIR 120 VEQAEFSELN LAAYVTGGCM VDMQVVRNGT KVVSRSFKPD FILVRQHAYS MALGEDYRSL 180 VIGLQYGGLP AVNSLYSVYN FCSKPWVFSQ LIKIFHSLGP EKFPLVEQTF FPNHKPMVTA 240 PHFPVVVKLG HAHAGMGKIK VENQLDFQDI TSVVAMAKTY ATTEAFIDSK YDIRIQKIGS 300 NYKAYMRTSI SGNWKANTGS AMLEQVAMTE RYRLWVDSCS EMFGGLDICA VKAVHSKDGR 360 DYIIEVMDSS MPLIGEHVEE DRQLMADLVV SKMSQLPMPG GTAPSPLRPW APQIKSAKSP 420 GQAQLGPQLG QPQPRPPPQG GPRQAQSPQP QRSGSPSQQR LSPQGQQPLS PQSGSPQQQR 480 SPGSPQLSRA SSGSSPNQAS KPGATLASQP RPPVQGRSTS QQGEESKKPA PPHPHLNKSQ 540 SLTNSLSTSD TSQRGTPSED EAKAETIRNL RKSFASLFSD 581 Fasta Sequence >O14994\|SYN3\|Homo sapiens (Human) MNFLRRRLSDSSFMANLPNGYMTDLQRPDSSTSSPASPAMERRHPQPLAASFSSPGSSLFSSLSSAMKQAPQATSGLMEPPGPSTPIVQRPRILLVIDDAHTDWSKYFHGKKVNGEIEIRVEQAEFSELNLAAYVTGGCMVDMQVVRNGTKVVSRSFKPDFILVRQHAYSMALGEDYRSLVIGLQYGGLPAVNSLYSVYNFCSKPWVFSQLIKIFHSLGPEKFPLVEQTFFPNHKPMVTAPHFPVVVKLGHAHAGMGKIKVENQLDFQDITSVVAMAKTYATTEAFIDSKYDIRIQKIGSNYKAYMRTSISGNWKANTGSAMLEQVAMTERYRLWVDSCSEMFGGLDICAVKAVHSKDGRDYIIEVMDSSMPLIGEHVEEDRQLMADLVVSKMSQLPMPGGTAPSPLRPWAPQIKSAKSPGQAQLGPQLGQPQPRPPPQGGPRQAQSPQPQRSGSPSQQRLSPQGQQPLSPQSGSPQQQRSPGSPQLSRASSGSSPNQASKPGATLASQPRPPVQGRSTSQQGEESKKPAPPHPHLNKSQSLTNSLSTSDTSQRGTPSEDEAKAETIRNLRKSFASLFSD

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Serine Phosphorylation	Schizophrenia		N	S470	15900227
1	[Reference]: Two tightly linked single-nucleotide polymorphisms were recently found in a small subset of patients with SZ - a synonymous variant, L469L (469G>A), and a non-synonymous variant, S470N (470G>A) - which results in the loss of a mitogen-activated protein kinase serine phosphorylation site.

※ Disease Cross-ref Annotation

Database	Annotation
HGMD (count: 1)	CM044945; Schizophrenia, assoc. with ?; Missense/nonsense
GWASdb (count: 60) (view all)	rs762907; Type 2 diabetes; type 2 diabetes mellitus rs135478; Response to cholinesterase inhibitors in Alzheimer's disease; Alzheimer's disease rs2858335; Multiple complex diseases; Null rs2710375; Urinary metabolites; kidney disease rs11089573; Lung function (forced expiratory volume in 1 second); lung disease rs9606982; White matter integrity; bipolar disorder\|brain disease rs1009401; Cognitive impairment induced by topiramate; cognitive disorder rs16990824; Response to cytidine analogues (gemcitabine); cancer rs16990831; Major depressive disorder (broad); major depressive disorder rs5749471; Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine); neutropenia rs9621508; Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine); neutropenia rs13340089; White matter integrity; bipolar disorder\|brain disease rs4821083; Height; Null rs115106883; Height; Null rs200483076; Age-related macular degeneration; age related macular degeneration rs737825; Multiple complex diseases; Null rs756481; Lung function (forced vital capacity); lung disease rs756481; Serum albumin level; kidney disease\|liver disease\|cardiovascular system disease rs2899193; C-reactive protein; metabolic syndrome X\|type 2 diabetes mellitus\|hypertension\|myocardial infarction rs9621545; Multiple sclerosis; multiple sclerosis rs3788488; Lung function (forced expiratory volume in 1 second); lung disease rs3788488; Lung function (forced vital capacity); lung disease rs4339044; Lung function (forced expiratory volume in 1 second); lung disease rs732446; Lung function (forced expiratory volume in 1 second); lung disease rs762884; Response to statin treatment (atorvastatin), change in cholesterol levels; cardiovascular system disease rs762884; Non-alcoholic fatty liver disease histology (other); fatty liver disease rs5994617; Lung function (forced expiratory volume in 1 second); lung disease rs9619305; Response to statin treatment (atorvastatin), change in cholesterol levels; cardiovascular system disease rs6518791; Multiple complex diseases; Null rs5754250; Multiple complex diseases; Null rs4821100; Type 2 diabetes; type 2 diabetes mellitus rs17503; Serum albumin level; kidney disease\|liver disease\|cardiovascular system disease rs7287772; Lung function (forced vital capacity); lung disease rs7287772; Lung function (forced expiratory volume in 1 second); lung disease rs2040435; Urinary metabolites; kidney disease rs5749531; Urinary metabolites; kidney disease rs2040437; Urinary metabolites; kidney disease rs5754319; Glycemic traits (pregnancy); type 2 diabetes mellitus rs5754321; Glycemic traits (pregnancy); type 2 diabetes mellitus rs5754322; Glycemic traits (pregnancy); type 2 diabetes mellitus rs137500; Multiple complex diseases; Null rs137500; Lung function (forced vital capacity); lung disease rs137514; Cognitive test performance; cognitive disorder rs137528; Lung function (forced vital capacity); lung disease rs5754331; Lung function (forced expiratory volume in 1 second); lung disease rs80693; Suicide attempts in bipolar disorder; bipolar disorder rs137543; Urinary metabolites; kidney disease rs9609656; Response to statin treatment (atorvastatin), change in cholesterol levels; cardiovascular system disease rs9609656; Glucose levels; type 2 diabetes mellitus rs9609656; Insulin-related traits; type 2 diabetes mellitus rs25112; Multiple complex diseases; Null rs17779789; Multiple complex diseases; Null rs11704652; Multiple complex diseases; Null rs11089599; Multiple complex diseases; Null rs2042794; Multiple complex diseases; Null rs2081727; Multiple complex diseases; Null rs241715; Eosinophil counts; eosinophilia\|asthma\|myocardial infarction rs9609681; Acute lymphoblastic leukemia (childhood); acute lymphocytic leukemia\|acute leukemia rs133967; Lung function (forced vital capacity); lung disease rs16991717; Suicide attempts in bipolar disorder; bipolar disorder

Database

Annotation

HGMD
(count: 1)

CM044945; Schizophrenia, assoc. with ?; Missense/nonsense

GWASdb
(count: 60)
(view all)

rs762907; Type 2 diabetes; type 2 diabetes mellitus
rs135478; Response to cholinesterase inhibitors in Alzheimer's disease; Alzheimer's disease
rs2858335; Multiple complex diseases; Null
rs2710375; Urinary metabolites; kidney disease
rs11089573; Lung function (forced expiratory volume in 1 second); lung disease
rs9606982; White matter integrity; bipolar disorder|brain disease

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 14) (view all)	32 LQRPDSSTSSPASPA dbPAF 453 QSPQPQRSGSPSQQR dbPAF 455 PQPQRSGSPSQQRLS dbPAF 457 PQRSGSPSQQRLSPQ dbPAF 462 SPSQQRLSPQGQQPL dbPAF 470 PQGQQPLSPQSGSPQ dbPAF 473 QQPLSPQSGSPQQQR dbPAF 475 PLSPQSGSPQQQRSP dbPAF 484 QQQRSPGSPQLSRAS dbPAF 508 KPGATLASQPRPPVQ dbPAF 518 RPPVQGRSTSQQGEE dbPAF 520 PVQGRSTSQQGEESK dbPAF 545 KSQSLTNSLSTSDTS dbPAF 552 SLSTSDTSQRGTPSE dbPAF

PTM

Modification Sites

Phosphorylation
(count: 14)
(view all)

32        LQRPDSSTSSPASPA     dbPAF
453       QSPQPQRSGSPSQQR     dbPAF
455       PQPQRSGSPSQQRLS     dbPAF
457       PQRSGSPSQQRLSPQ     dbPAF
462       SPSQQRLSPQGQQPL     dbPAF
470       PQGQQPLSPQSGSPQ     dbPAF

※ Protein-Protein Interaction

Network

Interaction

Source

O14994	O75052	HPRD
O14994	P17600	HPRD
O14994	Q92777	HPRD

PTMD Annotation Information

※ Protein Information

Functional Description

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction