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SYT8 synaptotagmin 8 [ Homo sapiens (human) ]

Gene ID: 90019, updated on 11-Sep-2019

Summary

Official Symbol
SYT8provided by HGNC
Official Full Name
synaptotagmin 8provided by HGNC
Primary source
HGNC:HGNC:19264
See related
Ensembl:ENSG00000149043 MIM:607719
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
Summary
This gene encodes a member of the synaptotagmin protein family. Synaptotagmins are membrane proteins that are important in neurotransmission and hormone secretion, both of which involve regulated exocytosis. Expression of the encoded protein in human pancreatic islets has been connected to activity of the promoter for the insulin gene, on the same chromosome several hundred kilobases away (PMID: 21336277 and 22928559). This association would link response to gluclose to insulin secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Expression
Biased expression in skin (RPKM 28.8), urinary bladder (RPKM 7.9) and 5 other tissues See more
Orthologs

Genomic context

See SYT8 in Genome Data Viewer
Location:
11p15.5
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (1827484..1837521)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1855674..1858751)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L36a pseudogene 39 Neighboring gene actin beta pseudogene Neighboring gene uncharacterized LOC107984299 Neighboring gene troponin I2, fast skeletal type

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

NHGRI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434K0322

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
clathrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
acrosome reaction 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 
cellular response to calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
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 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dense core granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
exocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
synaptotagmin-8
Names
synaptotagmin VIII
sytVIII

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.

Genomic

  1. NG_034029.1 RefSeqGene

    Range
    5001..8212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001290332.2NP_001277261.2  synaptotagmin-8 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AC051649
  2. NM_001290333.2NP_001277262.2  synaptotagmin-8 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site, compared to variant 1. The encoded protein (isoform 3) is shorter, compared to isoform 1.
    Source sequence(s)
    AC051649
    Related
    ENSP00000371406.3, ENST00000381978.7
  3. NM_001290334.2NP_001277263.2  synaptotagmin-8 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site, and an alternate upstream translation start, compared to variant 1. The encoded protein (isoform 4) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC051649
  4. NM_138567.5NP_612634.4  synaptotagmin-8 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, and an alternate upstream translation start, compared to variant 1. The encoded protein (isoform 2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC051649
    Consensus CDS
    CCDS7726.2
    Related
    ENSP00000371394.3, ENST00000381968.7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    1827484..1837521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520457.2XP_011518759.1  synaptotagmin-8 isoform X4

    See identical proteins and their annotated locations for XP_011518759.1

    UniProtKB/TrEMBL
    A6NCR4
    Conserved Domains (1) summary
    cl14603
    Location:233362
    C2; C2 domain
  2. XM_017018529.2XP_016874018.1  synaptotagmin-8 isoform X4

    UniProtKB/TrEMBL
    A6NCR4
    Related
    ENSP00000343691.3, ENST00000341958.3
    Conserved Domains (1) summary
    cl14603
    Location:233362
    C2; C2 domain
  3. XM_011520455.1XP_011518757.1  synaptotagmin-8 isoform X1

    Conserved Domains (1) summary
    cl14603
    Location:385514
    C2; C2 domain
  4. XM_011520456.2XP_011518758.1  synaptotagmin-8 isoform X3

    Conserved Domains (1) summary
    cl14603
    Location:257370
    C2; C2 domain
  5. XM_017018528.1XP_016874017.1  synaptotagmin-8 isoform X2

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160004.1 Reference GRCh38.p13 PATCHES

    Range
    24930..28024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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