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SYT6 synaptotagmin 6 [ Homo sapiens (human) ]

Gene ID: 148281, updated on 11-Jun-2021

Summary

Official Symbol
SYT6provided by HGNC
Official Full Name
synaptotagmin 6provided by HGNC
Primary source
HGNC:HGNC:18638
See related
Ensembl:ENSG00000134207 MIM:607718
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
sytVI
Summary
The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]
Expression
Biased expression in brain (RPKM 2.6), kidney (RPKM 0.8) and 6 other tissues See more
Orthologs
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Genomic context

See SYT6 in Genome Data Viewer
Location:
1p13.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (114089292..114153869, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (114631914..114696491, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene olfactomedin like 3 Neighboring gene ribosomal protein L13a pseudogene 10 Neighboring gene uncharacterized LOC107985443 Neighboring gene mitochondrial ribosomal protein L57 pseudogene 1

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
A genome-wide association study of behavioral disinhibition.
GeneReviews: Not available
Identification of inherited genetic variations influencing prognosis in early-onset breast cancer.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT enables calcium-dependent phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
enables clathrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables clathrin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables syntaxin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in acrosomal vesicle exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in calcium-ion regulated exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in presynaptic dense core vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of calcium ion-dependent exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of dopamine secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in exocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extrinsic component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of synaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
synaptotagmin-6
Names
synaptotagmin VI

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_050730.1 RefSeqGene

    Range
    5001..69559
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001253772.2NP_001240701.1  synaptotagmin-6 isoform a

    Status: REVIEWED

    Source sequence(s)
    AL162594
    Related
    ENSP00000476396.1, ENST00000610222.3
    Conserved Domains (2) summary
    cd08385
    Location:230354
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08403
    Location:363496
    C2B_Synaptotagmin-3-5-6-9-10; C2 domain second repeat present in Synaptotagmins 3, 5, 6, 9, and 10
  2. NM_001270805.2NP_001257734.1  synaptotagmin-6 isoform b

    See identical proteins and their annotated locations for NP_001257734.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longer transcript. Variants 2 and 3 encode the same protein.
    Source sequence(s)
    AL162594, BC044948, N50928
    Consensus CDS
    CCDS871.1
    UniProtKB/Swiss-Prot
    Q5T7P8
    UniProtKB/TrEMBL
    I6L9C3
    Conserved Domains (2) summary
    cd08385
    Location:145269
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08403
    Location:278411
    C2B_Synaptotagmin-3-5-6-9-10; C2 domain second repeat present in Synaptotagmins 3, 5, 6, 9, and 10
  3. NM_001366223.1NP_001353152.1  synaptotagmin-6 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL162594
    Related
    ENSP00000477344.1, ENST00000609117.5
    Conserved Domains (2) summary
    cd08385
    Location:145269
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08403
    Location:278411
    C2B_Synaptotagmin-3-5-6-9-10; C2 domain second repeat present in Synaptotagmins 3, 5, 6, 9, and 10
  4. NM_001366224.1NP_001353153.1  synaptotagmin-6 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL162594
    Related
    ENSP00000358560.2, ENST00000369547.6
    Conserved Domains (2) summary
    cd08385
    Location:230354
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08403
    Location:363496
    C2B_Synaptotagmin-3-5-6-9-10; C2 domain second repeat present in Synaptotagmins 3, 5, 6, 9, and 10
  5. NM_001366225.1NP_001353154.1  synaptotagmin-6 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL162594
    Related
    ENSP00000493062.2, ENST00000641643.2
    Conserved Domains (2) summary
    cd08385
    Location:230354
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08403
    Location:363496
    C2B_Synaptotagmin-3-5-6-9-10; C2 domain second repeat present in Synaptotagmins 3, 5, 6, 9, and 10
  6. NM_001366226.1NP_001353155.1  synaptotagmin-6 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL162594
    Conserved Domains (2) summary
    cd08385
    Location:145269
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08403
    Location:278411
    C2B_Synaptotagmin-3-5-6-9-10; C2 domain second repeat present in Synaptotagmins 3, 5, 6, 9, and 10
  7. NM_205848.4NP_995320.1  synaptotagmin-6 isoform b

    See identical proteins and their annotated locations for NP_995320.1

    Status: REVIEWED

    Source sequence(s)
    AK056448, AK096744, AL162594, BC044948, BX431128, N50928
    Consensus CDS
    CCDS871.1
    UniProtKB/Swiss-Prot
    Q5T7P8
    UniProtKB/TrEMBL
    I6L9C3
    Related
    ENSP00000476507.1, ENST00000607941.5
    Conserved Domains (2) summary
    cd08385
    Location:145269
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08403
    Location:278411
    C2B_Synaptotagmin-3-5-6-9-10; C2 domain second repeat present in Synaptotagmins 3, 5, 6, 9, and 10

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    114089292..114153869 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453337.1XP_024309105.1  synaptotagmin-6 isoform X2

    Conserved Domains (2) summary
    cd08385
    Location:145269
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08403
    Location:278411
    C2B_Synaptotagmin-3-5-6-9-10; C2 domain second repeat present in Synaptotagmins 3, 5, 6, 9, and 10
  2. XM_024453336.1XP_024309104.1  synaptotagmin-6 isoform X1

    Conserved Domains (2) summary
    cd08385
    Location:217341
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08403
    Location:350483
    C2B_Synaptotagmin-3-5-6-9-10; C2 domain second repeat present in Synaptotagmins 3, 5, 6, 9, and 10

RNA

  1. XR_001736985.1 RNA Sequence

    Related
    ENST00000610121.5
  2. XR_946547.3 RNA Sequence

  3. XR_002959489.1 RNA Sequence

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