1. Gene
  2. SYT1 - synaptotagmin 1 Gene

SYT1 - synaptotagmin 1 Gene

Homo sapiens

Also known as P65; SYT; BAGOS; SVP65

Gene ID: 6857 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

C2

C2: C2 domain (159 - 244)

C2

C2: C2 domain (290 - 377)

  • 0
  • 100
  • 200
  • 300
  • 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 Reference
Intra
SYT1 P21579 CSGALNACT2 Homo sapiens Q8N6G5 32296183
Intra
SYT1 P21579 TMEM254 Homo sapiens Q8TBM7 32296183
Intra
SYT1 P21579 TMEM254 Homo sapiens Q8TBM7 32296183
Intra
SYT1 P21579 TSHR Homo sapiens P16473 28298427
Intra
SYT1 P21579 TMEM14C Homo sapiens Q9P0S9 32296183
Intra
SYT1 P21579 UBIAD1 Homo sapiens Q9Y5Z9 32296183
Intra
SYT1 P21579 TMEM60 Homo sapiens Q9H2L4 32296183
Intra
SYT1 P21579 NAPB Homo sapiens Q9H115 32296183
Intra
SYT1 P21579 GIMAP5 Homo sapiens Q96F15 32296183
Intra
SYT1 P21579 HMOX2 Homo sapiens P30519 32296183
Intra
SYT1 P21579 BNIP2 Homo sapiens Q12982 32296183
Intra
SYT1 P21579 SYT2 Homo sapiens Q8N9I0 28514442
Intra
SYT1 P21579 SYT2 Homo sapiens Q8N9I0 33961781
Intra
SYT1 P21579 IKBKG Homo sapiens Q9Y6K9 20098747
Intra
SYT1 P21579 MIP Homo sapiens P30301 32296183
Intra
SYT1 P21579 BTN2A2 Homo sapiens Q8WVV5 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

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