SYT1 - synaptotagmin 1 Gene

Also Known as P65; SYT; BAGOS; SVP65

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6857

About SYT1

Cytogenetic location: 12q21.2 Genomic coordinates (GRCh38): 12:78,863,982-79,452,008 (from NCBI)

This gene has 36 transcripts (splice variants), 286 orthologues, 31 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 173.4) and adrenal (RPKM 11.7).

Summary

The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as CA(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010]

SYT1 Products (4)

mRNA	Protein	Name
NM_001135805.2	NP_001129277.1	synaptotagmin-1 isoform 1
NM_001135806.2	NP_001129278.1	synaptotagmin-1 isoform 1
NM_001291901.2	NP_001278830.1	synaptotagmin-1 isoform 2
NM_005639.3	NP_005630.1	synaptotagmin-1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables lipid binding	EXP EXP: Inferred from Experiment	27191789	GOA
enables lipid binding	IDA IDA: Inferred from direct assay	27191789	GOA
enables low-density lipoprotein particle receptor binding	IDA IDA: Inferred from direct assay	15082773	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16525042	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of dendrite extension	IDA IDA: Inferred from direct assay	23999003	GOA
involved in vesicle organization	IDA IDA: Inferred from direct assay	27191789	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	24327345	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SYT1 Protein Structure

0
100
200
300
400
422 a.a.

Protein Preferred Names	Protein Names
synaptotagmin-1	synaptotagmin I

SYT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SYT1	P21579	CSGALNACT2	Homo sapiens	Q8N6G5	Validated Y2H	32296183
Intra	SYT1	P21579	TMEM254	Homo sapiens	Q8TBM7	Validated Y2H	32296183
Intra	SYT1	P21579	TMEM254	Homo sapiens	Q8TBM7	Y2H Prey Pooling	32296183
Intra	SYT1	P21579	TSHR	Homo sapiens	P16473	Ub Reconstruction	28298427
Intra	SYT1	P21579	TMEM14C	Homo sapiens	Q9P0S9	Validated Y2H	32296183
Intra	SYT1	P21579	UBIAD1	Homo sapiens	Q9Y5Z9	Validated Y2H	32296183
Intra	SYT1	P21579	TMEM60	Homo sapiens	Q9H2L4	Validated Y2H	32296183
Intra	SYT1	P21579	NAPB	Homo sapiens	Q9H115	Validated Y2H	32296183
Intra	SYT1	P21579	GIMAP5	Homo sapiens	Q96F15	Validated Y2H	32296183
Intra	SYT1	P21579	HMOX2	Homo sapiens	P30519	Validated Y2H	32296183
Intra	SYT1	P21579	BNIP2	Homo sapiens	Q12982	Validated Y2H	32296183
Intra	SYT1	P21579	SYT2	Homo sapiens	Q8N9I0	Anti Tag CoIP	28514442
Intra	SYT1	P21579	SYT2	Homo sapiens	Q8N9I0	Anti Tag CoIP	33961781
Intra	SYT1	P21579	IKBKG	Homo sapiens	Q9Y6K9	Pull Down	20098747
Intra	SYT1	P21579	MIP	Homo sapiens	P30301	Validated Y2H	32296183
Intra	SYT1	P21579	BTN2A2	Homo sapiens	Q8WVV5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Baker-Gordon Syndrome	Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome BAGOS Neurodevelopmental Disorder With Involuntary Movement And Abnormal Electroencephalogram Nedimae Syt1-Related Neurodevelopmental Disorder
Syndromic Intellectual Disability
Med13l Haploinsufficiency Syndrome	Cardiac Anomalies-Developmental Delay-Facial Dysmorphism Syndrome Intellectual Disability And Distinctive Facial Features With Or Without Cardiac Defects Med13l Syndrome Developmental Delay-Facial Dysmorphism Syndrome Due To Med13l Deficiency Cardiac Anomalies - Developmental Delay - Facial Dysmorphism Syndrome Asadollahi-Rauch Syndrome Asras Med13l-Related Intellectual Disability Mrfacd Med13l-Related Intellectual Disability Syndrome
Foodborne Botulism	Botulism Botulism Poisoning Intoxication With Clostridium Botulinum Toxin Wound Botulism Food Poisoning Due To Clostridium Botulinum Infection Due To Clostridium Botulinum Infant Botulism Intoxication Botulism Botulism, Infantile Clostridium Botulinum Poisoning Botulism Nos
Diarrhea 1, Secretory Chloride, Congenital	DIAR1 Chloride Diarrhea, Congenital, Finnish Type Congenital Secretory Chloride Diarrhea 1 Congenital Chloride Diarrhea Finnish Type Congenital Chloride Diarrhea Chloridorrhea, Congenital Congenital Chloride Diarrhoea Finnish Type Congenital Chloridorrhea Congenital Secretory Chloride Diarrhoea 1 Chloridorrhea Congenital Cld Diarrhea 1 Secretory Chloride Congenital Diarrhea, Type 1, Chloride, Secretory, Congenital
Deafness, Autosomal Recessive 9	Auditory Neuropathy, Autosomal Recessive, 1 Neurosensory Nonsyndromic Recessive Deafness 9 DFNB9 Nsrd9 Autosomal Recessive Nonsyndromic Deafness 9 Autosomal Recessive Deafness 9 Nrsd9 AUNB1 Nonsyndromic Auditory Neuropathy Autosomal Recessive Nsran Deafness, Autosomal Recessive, 9 Deafness Neurosensory Autosomal Recessive 9 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 Non-Syndromic Recessive Hearing Loss 9 Deafness, Autosomal Recessive, Type 9 Auditory Neuropathy, Nonsyndromic Recessive
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
Liver Leiomyosarcoma	Leiomyosarcoma Of The Liver
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-182539	DD04107	Modulator	/	Unkown
HY-P5043	α-Synuclein (67-78) (human)		/	Unkown
HY-RS14106	SYT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22338	Syt1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28860	Syt1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SYT1	VGNC	VGNC:78074
Canis familiaris	SYT1	VGNC	VGNC:47040
Mus musculus	SYT1	MGD	MGI:99667
Bos taurus	SYT1	VGNC	VGNC:35535
Rattus norvegicus	SYT1	RGD	RGD:3803
Others	SYT1	NCBI