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STXBP3 syntaxin binding protein 3 [ Homo sapiens (human) ]

Gene ID: 6814, updated on 7-Dec-2018

Summary

Official Symbol
STXBP3provided by HGNC
Official Full Name
syntaxin binding protein 3provided by HGNC
Primary source
HGNC:HGNC:11446
See related
Ensembl:ENSG00000116266 MIM:608339
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
PSP; MUNC18C; UNC-18C; MUNC18-3
Expression
Ubiquitous expression in thyroid (RPKM 25.5), kidney (RPKM 20.8) and 25 other tissues See more
Orthologs

Genomic context

See STXBP3 in Genome Data Viewer
Location:
1p13.3
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (108746635..108809526)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109289285..109352148)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene pre-mRNA processing factor 38B Neighboring gene fibronectin type III domain containing 7 Neighboring gene N-acetylneuraminic acid phosphatase pseudogene Neighboring gene uncharacterized LOC105378891 Neighboring gene AKNA domain containing 1 Neighboring gene spermatogenesis associated 42

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
NHGRI GWA Catalog

Pathways from BioSystems

  • Disinhibition of SNARE formation, organism-specific biosystem (from REACTOME)
    Disinhibition of SNARE formation, organism-specific biosystem
    Disinhibition of SNARE formation
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
  • 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...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • Translocation of GLUT4 to the plasma membrane, organism-specific biosystem (from REACTOME)
    Translocation of GLUT4 to the plasma membrane, organism-specific biosystemIn adipocytes and myocytes insulin signaling causes intracellular vesicles carrying the GLUT4 (SLC2A4) glucose transporter to translocate to the plasma membrane, allowing the cells to take up glucose...
  • 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
syntaxin binding IPI
Inferred from Physical Interaction
more info
PubMed 
syntaxin-1 binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular response to interferon-gamma IEA
Inferred from Electronic Annotation
more info
 
insulin secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of calcium ion-dependent exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of glucose import IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation IEP
Inferred from Expression Pattern
more info
PubMed 
platelet aggregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
protein to membrane docking IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
vesicle docking involved in exocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
phagocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
platelet alpha granule IDA
Inferred from Direct Assay
more info
PubMed 
presynapse EXP
Inferred from Experiment
more info
PubMed 
presynapse IDA
Inferred from Direct Assay
more info
PubMed 
specific granule IDA
Inferred from Direct Assay
more info
PubMed 
tertiary granule IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
syntaxin-binding protein 3
Names
platelet Sec1 protein
protein unc-18 homolog 3
protein unc-18 homolog C
syntaxin 4 binding protein
unc18-3

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_007269.4NP_009200.2  syntaxin-binding protein 3

    See identical proteins and their annotated locations for NP_009200.2

    Status: VALIDATED

    Source sequence(s)
    AF032922, CN409056
    Consensus CDS
    CCDS790.1
    UniProtKB/Swiss-Prot
    O00186
    Related
    ENSP00000359025.3, ENST00000370008.3
    Conserved Domains (1) summary
    pfam00995
    Location:33569
    Sec1; Sec1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    108746635..108809526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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