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SYT1 synaptotagmin 1 [ Homo sapiens (human) ]

Gene ID: 6857, updated on 1-Aug-2020

Summary

Official Symbol
SYT1provided by HGNC
Official Full Name
synaptotagmin 1provided by HGNC
Primary source
HGNC:HGNC:11509
See related
Ensembl:ENSG00000067715 MIM:185605
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P65; SYT; BAGOS; SVP65
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]
Expression
Biased expression in brain (RPKM 173.4) and adrenal (RPKM 11.7) See more
Orthologs

Genomic context

See SYT1 in Genome Data Viewer
Location:
12q21.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (78863982..79452008)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (79257773..79845788)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L11 pseudogene 3 Neighboring gene RAS like proto-oncogene A pseudogene Neighboring gene uncharacterized LOC105369863 Neighboring gene RE1 silencing transcription factor pseudogene Neighboring gene microRNA 1252 Neighboring gene NOP56 ribonucleoprotein pseudogene 3 Neighboring gene pro-apoptotic WT1 regulator

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
MedGen: C4748715 OMIM: 618218 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp781D2042

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SNARE binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion sensor activity IEA
Inferred from Electronic Annotation
more info
 
calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent phospholipid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium-dependent phospholipid binding TAS
Traceable Author Statement
more info
PubMed 
calcium-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
clathrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
low-density lipoprotein particle receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
syntaxin-1 binding ISS
Inferred from Sequence or Structural Similarity
more info
 
syntaxin-3 binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
brain development IEA
Inferred from Electronic Annotation
more info
 
calcium ion regulated exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion-regulated exocytosis of neurotransmitter IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent activation of synaptic vesicle fusion IEA
Inferred from Electronic Annotation
more info
 
cellular response to calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
detection of calcium ion TAS
Traceable Author Statement
more info
PubMed 
fast, calcium ion-dependent exocytosis of neurotransmitter ISS
Inferred from Sequence or Structural Similarity
more info
 
glutamate secretion TAS
Traceable Author Statement
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
neurotransmitter secretion TAS
Traceable Author Statement
more info
PubMed 
positive regulation of calcium ion-dependent exocytosis of neurotransmitter ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of dendrite extension IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of dopamine secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of calcium ion-dependent exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of dopamine secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of exocytosis TAS
Traceable Author Statement
more info
PubMed 
regulation of regulated secretory pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of synaptic transmission, glutamatergic ISS
Inferred from Sequence or Structural Similarity
more info
 
spontaneous neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synchronous neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
vesicle docking IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromaffin granule membrane IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle membrane TAS
Traceable Author Statement
more info
 
clathrin-sculpted acetylcholine transport vesicle membrane TAS
Traceable Author Statement
more info
 
clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane TAS
Traceable Author Statement
more info
 
clathrin-sculpted glutamate transport vesicle membrane TAS
Traceable Author Statement
more info
 
clathrin-sculpted monoamine transport vesicle membrane TAS
Traceable Author Statement
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dense core granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
excitatory synapse IEA
Inferred from Electronic Annotation
more info
 
exocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection terminus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle TAS
Traceable Author Statement
more info
PubMed 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
synaptotagmin-1
Names
synaptotagmin I
sytI

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001135805.2NP_001129277.1  synaptotagmin-1 isoform 1

    See identical proteins and their annotated locations for NP_001129277.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AC073606, AK094616, AK126908, BC041373, BM668697, DA174824
    Consensus CDS
    CCDS9017.1
    UniProtKB/Swiss-Prot
    P21579
    UniProtKB/TrEMBL
    A0A024RBE9
    Related
    ENSP00000376932.3, ENST00000393240.7
    Conserved Domains (2) summary
    cd08385
    Location:143265
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:274409
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1
  2. NM_001135806.2NP_001129278.1  synaptotagmin-1 isoform 1

    See identical proteins and their annotated locations for NP_001129278.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    BC041373, BM668697, CR627387, DA174824
    Consensus CDS
    CCDS9017.1
    UniProtKB/Swiss-Prot
    P21579
    UniProtKB/TrEMBL
    A0A024RBE9
    Related
    ENSP00000447575.1, ENST00000552744.5
    Conserved Domains (2) summary
    cd08385
    Location:143265
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:274409
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1
  3. NM_001291901.2NP_001278830.1  synaptotagmin-1 isoform 2

    See identical proteins and their annotated locations for NP_001278830.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice site in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC027288, AC073572, AC073606, AC078917
    Consensus CDS
    CCDS76582.1
    UniProtKB/TrEMBL
    J3KQA0
    Related
    ENSP00000391056.2, ENST00000457153.6
    Conserved Domains (2) summary
    cd08385
    Location:140262
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:271406
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1
  4. NM_005639.3NP_005630.1  synaptotagmin-1 isoform 1

    See identical proteins and their annotated locations for NP_005630.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AC027288, AC073572, AC073606, AC073616, AC078917
    Consensus CDS
    CCDS9017.1
    UniProtKB/Swiss-Prot
    P21579
    UniProtKB/TrEMBL
    A0A024RBE9
    Related
    ENSP00000261205.4, ENST00000261205.9
    Conserved Domains (2) summary
    cd08385
    Location:143265
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:274409
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    78863982..79452008
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269113.3XP_005269170.1  synaptotagmin-1 isoform X2

    See identical proteins and their annotated locations for XP_005269170.1

    UniProtKB/TrEMBL
    J3KQA0
    Conserved Domains (2) summary
    cd08385
    Location:140262
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:271406
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1
  2. XM_011538710.2XP_011537012.1  synaptotagmin-1 isoform X1

    See identical proteins and their annotated locations for XP_011537012.1

    UniProtKB/Swiss-Prot
    P21579
    UniProtKB/TrEMBL
    A0A024RBE9
    Conserved Domains (2) summary
    cd08385
    Location:143265
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:274409
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1
  3. XM_006719576.1XP_006719639.1  synaptotagmin-1 isoform X2

    See identical proteins and their annotated locations for XP_006719639.1

    UniProtKB/TrEMBL
    J3KQA0
    Conserved Domains (2) summary
    cd08385
    Location:140262
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:271406
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1
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