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Aliases for STXBP5 Gene

Aliases for STXBP5 Gene

  • Syntaxin Binding Protein 5 2 3
  • Lethal(2) Giant Larvae Protein Homolog 3 3 4
  • Syntaxin Binding Protein 5 (Tomosyn) 3 5
  • Tomosyn-1 3 4
  • LLGL3 3 4
  • Putative Protein Product Of Nbla04300 3
  • Nbla04300 3
  • Tomosyn 3
  • LGL3 3

External Ids for STXBP5 Gene

Previous GeneCards Identifiers for STXBP5 Gene

  • GC06P147372
  • GC06P147461
  • GC06P147505
  • GC06P147566
  • GC06P145089

Summaries for STXBP5 Gene

Entrez Gene Summary for STXBP5 Gene

  • Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for STXBP5 Gene

STXBP5 (Syntaxin Binding Protein 5) is a Protein Coding gene. GO annotations related to this gene include syntaxin binding and syntaxin-1 binding. An important paralog of this gene is LLGL2.

UniProtKB/Swiss-Prot for STXBP5 Gene

  • Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles to the plasma membrane. Competes with STXBP1 for STX1 binding (By similarity).

Gene Wiki entry for STXBP5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STXBP5 Gene

Genomics for STXBP5 Gene

Regulatory Elements for STXBP5 Gene

Promoters for STXBP5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around STXBP5 on UCSC Golden Path with GeneCards custom track

Genomic Location for STXBP5 Gene

Chromosome:
6
Start:
147,204,358 bp from pter
End:
147,390,476 bp from pter
Size:
186,119 bases
Orientation:
Plus strand

Genomic View for STXBP5 Gene

Genes around STXBP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STXBP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STXBP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STXBP5 Gene

Proteins for STXBP5 Gene

  • Protein details for STXBP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T5C0-STXB5_HUMAN
    Recommended name:
    Syntaxin-binding protein 5
    Protein Accession:
    Q5T5C0
    Secondary Accessions:
    • Q14DF3
    • Q5T5C1
    • Q5T5C2
    • Q8NBG8
    • Q96NG9

    Protein attributes for STXBP5 Gene

    Size:
    1151 amino acids
    Molecular mass:
    127573 Da
    Quaternary structure:
    • Interacts with STX1A and STX1B via its v-SNARE homology domain. Part of a complex that contains STX1, STXBP5, SNAP25 and SYT1. Part of a complex that contains STXBP5, STX4A and SNAP23 (By similarity).
    SequenceCaution:
    • Sequence=BAC03475.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for STXBP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STXBP5 Gene

Proteomics data for STXBP5 Gene at MOPED

Post-translational modifications for STXBP5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STXBP5 Gene

No data available for DME Specific Peptides for STXBP5 Gene

Domains & Families for STXBP5 Gene

Gene Families for STXBP5 Gene

Graphical View of Domain Structure for InterPro Entry

Q5T5C0

UniProtKB/Swiss-Prot:

STXB5_HUMAN :
  • Contains 1 v-SNARE coiled-coil homology domain.
  • Belongs to the WD repeat L(2)GL family.
  • Contains 14 WD repeats.
Domain:
  • Contains 1 v-SNARE coiled-coil homology domain.
Family:
  • Belongs to the WD repeat L(2)GL family.
Similarity:
  • Contains 14 WD repeats.
genes like me logo Genes that share domains with STXBP5: view

Function for STXBP5 Gene

Molecular function for STXBP5 Gene

UniProtKB/Swiss-Prot Function:
Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles to the plasma membrane. Competes with STXBP1 for STX1 binding (By similarity).

Gene Ontology (GO) - Molecular Function for STXBP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
genes like me logo Genes that share ontologies with STXBP5: view
genes like me logo Genes that share phenotypes with STXBP5: view

Animal Models for STXBP5 Gene

MGI Knock Outs for STXBP5:

Animal Model Products

miRNA for STXBP5 Gene

miRTarBase miRNAs that target STXBP5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for STXBP5 Gene

Localization for STXBP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STXBP5 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein. Cytoplasmic vesicle membrane; Peripheral membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Cell junction, synapse. Note=Cytoplasmic, and associated with vesicular membranes and the plasma membrane. Detected at synapses and on synaptic vesicles (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STXBP5 Gene COMPARTMENTS Subcellular localization image for STXBP5 gene
Compartment Confidence
cytosol 4
plasma membrane 4
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for STXBP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005892 acetylcholine-gated channel complex ISS --
GO:0008021 synaptic vesicle IEA --
genes like me logo Genes that share ontologies with STXBP5: view

Pathways & Interactions for STXBP5 Gene

SuperPathways for STXBP5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for STXBP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017157 regulation of exocytosis TAS 15217342
GO:0030193 regulation of blood coagulation IMP 21810271
GO:0043547 positive regulation of GTPase activity IBA --
genes like me logo Genes that share ontologies with STXBP5: view

No data available for Pathways by source and SIGNOR curated interactions for STXBP5 Gene

Drugs & Compounds for STXBP5 Gene

(1) Drugs for STXBP5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with STXBP5: view

Transcripts for STXBP5 Gene

Unigene Clusters for STXBP5 Gene

Syntaxin binding protein 5 (tomosyn):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for STXBP5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
SP1: - - -
SP2: - - -
SP3: - - -
SP4: -
SP5: -
SP6:
SP7:

ExUns: 24b ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b
SP1: -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6: -
SP7:

Relevant External Links for STXBP5 Gene

GeneLoc Exon Structure for
STXBP5
ECgene alternative splicing isoforms for
STXBP5

Expression for STXBP5 Gene

mRNA expression in normal human tissues for STXBP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STXBP5 Gene

This gene is overexpressed in Frontal cortex (24.7), Peripheral blood mononuclear cells (11.3), Brain (6.6), and Platelet (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for STXBP5 Gene



SOURCE GeneReport for Unigene cluster for STXBP5 Gene Hs.86320

genes like me logo Genes that share expression patterns with STXBP5: view

Protein tissue co-expression partners for STXBP5 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for STXBP5 Gene

Orthologs for STXBP5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for STXBP5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia STXBP5 35
  • 93.02 (n)
  • 97.91 (a)
STXBP5 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STXBP5 35
  • 94.06 (n)
  • 98.44 (a)
STXBP5 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stxbp5 35
  • 88.88 (n)
  • 97.13 (a)
Stxbp5 16
Stxbp5 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia STXBP5 35
  • 99.74 (n)
  • 100 (a)
STXBP5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stxbp5 35
  • 89.37 (n)
  • 96.96 (a)
oppossum
(Monodelphis domestica)
Mammalia STXBP5 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STXBP5 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves STXBP5 35
  • 84.65 (n)
  • 93.66 (a)
STXBP5 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STXBP5 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stxbp5 35
  • 80.6 (n)
  • 89.01 (a)
zebrafish
(Danio rerio)
Actinopterygii stxbp5a 35
  • 72.5 (n)
  • 81.42 (a)
stxbp5a 36
  • 81 (a)
OneToMany
stxbp5b 36
  • 76 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000009 35
  • 51.73 (n)
  • 49.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta tomosyn 35
  • 50.93 (n)
  • 47.57 (a)
tomosyn 36
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tom-1 36
  • 32 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRO77 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for STXBP5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STXBP5 Gene

ENSEMBL:
Gene Tree for STXBP5 (if available)
TreeFam:
Gene Tree for STXBP5 (if available)

Paralogs for STXBP5 Gene

Paralogs for STXBP5 Gene

(4) SIMAP similar genes for STXBP5 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with STXBP5: view

Variants for STXBP5 Gene

Sequence variations from dbSNP and Humsavar for STXBP5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1039084 - 147,314,277(+) CATCA(A/G)CGGAG nc-transcript-variant, reference, missense
rs486867 -- 147,255,444(+) GGGTA(A/G/T)TCAAG intron-variant
rs474990 -- 147,251,244(+) gacgg(G/T)gcatt intron-variant
rs478270 -- 147,213,477(-) CGCGC(A/G)CACAC intron-variant
rs545333 -- 147,300,956(-) ttttt(G/T)ggcta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STXBP5 Gene

Variant ID Type Subtype PubMed ID
nsv886752 CNV Loss 21882294
nsv886753 CNV Loss 21882294
esv274916 CNV Gain+Loss 21479260
nsv470864 CNV Loss 18288195
dgv7007n71 CNV Loss 21882294
esv2732842 CNV Deletion 23290073
nsv823857 CNV Loss 20364138
esv2662896 CNV Deletion 23128226
nsv830839 CNV Gain 17160897
nsv522406 CNV Loss 19592680
esv2548254 CNV Deletion 19546169
nsv886758 CNV Loss 21882294
nsv886759 CNV Loss 21882294

Variation tolerance for STXBP5 Gene

Residual Variation Intolerance Score: 3.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.54; 88.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STXBP5 Gene

HapMap Linkage Disequilibrium report
STXBP5
Human Gene Mutation Database (HGMD)
STXBP5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STXBP5 Gene

Disorders for STXBP5 Gene

Relevant External Links for STXBP5

Genetic Association Database (GAD)
STXBP5
Human Genome Epidemiology (HuGE) Navigator
STXBP5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STXBP5

No disorders were found for STXBP5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for STXBP5 Gene

Publications for STXBP5 Gene

  1. Identification and characterization of human LLGL4 gene and mouse Llgl4 gene in silico. (PMID: 14767561) Katoh M. … Katoh M. (Int. J. Oncol. 2004) 2 3 23 67
  2. Tomosyn: a syntaxin-1-binding protein that forms a novel complex in the neurotransmitter release process. (PMID: 9620695) Fujita Y. … Takai Y. (Neuron 1998) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2. (PMID: 24578379) Huang J. … O'Donnell C.J. (Arterioscler. Thromb. Vasc. Biol. 2014) 3
  5. Platelet secretion and hemostasis require syntaxin-binding protein STXBP5. (PMID: 25244094) Ye S. … Whiteheart S.W. (J. Clin. Invest. 2014) 3

Products for STXBP5 Gene

Sources for STXBP5 Gene

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