Format

Send to:

Choose Destination

STXBP5 syntaxin binding protein 5 [ Homo sapiens (human) ]

Gene ID: 134957, updated on 2-Sep-2018

Summary

Official Symbol
STXBP5provided by HGNC
Official Full Name
syntaxin binding protein 5provided by HGNC
Primary source
HGNC:HGNC:19665
See related
Ensembl:ENSG00000164506 MIM:604586; Vega:OTTHUMG00000015766
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
LGL3; LLGL3; Nbla04300
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 8.9), testis (RPKM 5.6) and 25 other tissues See more
Orthologs

Genomic context

See STXBP5 in Genome Data Viewer
Location:
6q24.3
Exon count:
33
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (147204184..147390476)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (147525494..147711612)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene androglobin Neighboring gene katanin regulatory subunit B1 like 1 pseudogene 6 Neighboring gene STXBP5 antisense RNA 1 Neighboring gene lung adenocarcinoma associated transcript 1 Neighboring gene uncharacterized LOC105378043 Neighboring gene Yes associated protein 1 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
NHGRI GWA Catalog
Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
NHGRI GWA Catalog
Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.
NHGRI GWA Catalog
Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30922, MGC141942, MGC141968

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
syntaxin-1 binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
exocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of exocytosis TAS
Traceable Author Statement
more info
PubMed 
synaptic vesicle cycle IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
acetylcholine-gated channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
extrinsic component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynaptic cytosol IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
syntaxin-binding protein 5
Names
lethal(2) giant larvae protein homolog 3
putative protein product of Nbla04300
tomosyn
tomosyn-1

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_001127715.2NP_001121187.1  syntaxin-binding protein 5 isoform b

    See identical proteins and their annotated locations for NP_001121187.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional segment in the coding region, compared to variant 1, resulting in a longer isoform (b).
    Source sequence(s)
    AK090549, AL355365, AL356415, BC113382
    Consensus CDS
    CCDS47499.1
    UniProtKB/Swiss-Prot
    Q5T5C0
    Related
    ENSP00000321826.6, OTTHUMP00000017381, ENST00000321680.10, OTTHUMT00000042606
    Conserved Domains (5) summary
    COG2319
    Location:236538
    WD40; WD40 repeat [General function prediction only]
    cd15893
    Location:10841144
    R-SNARE_STXBP5; SNARE domain of STXBP5
    sd00039
    Location:6194
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:276383
    LLGL; LLGL2
    cl25539
    Location:61279
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_139244.4NP_640337.3  syntaxin-binding protein 5 isoform a

    See identical proteins and their annotated locations for NP_640337.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (a).
    Source sequence(s)
    AL355365, AL356415, BC113382
    Consensus CDS
    CCDS5211.1
    UniProtKB/Swiss-Prot
    Q5T5C0
    Related
    ENSP00000356451.3, OTTHUMP00000017380, ENST00000367481.7, OTTHUMT00000042605
    Conserved Domains (5) summary
    COG2319
    Location:236538
    WD40; WD40 repeat [General function prediction only]
    cd15893
    Location:10481108
    R-SNARE_STXBP5; SNARE domain of STXBP5
    sd00039
    Location:6194
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:276383
    LLGL; LLGL2
    cl25539
    Location:61279
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

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.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    147204184..147390476
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715339.3XP_006715402.1  syntaxin-binding protein 5 isoform X1

    Conserved Domains (5) summary
    COG2319
    Location:46274
    WD40; WD40 repeat [General function prediction only]
    cd15893
    Location:10681128
    R-SNARE_STXBP5; SNARE domain of STXBP5
    pfam08366
    Location:276383
    LLGL; LLGL2
    sd00039
    Location:6194
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:61279
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. XM_017010268.2XP_016865757.1  syntaxin-binding protein 5 isoform X4

  3. XM_011535453.1XP_011533755.1  syntaxin-binding protein 5 isoform X3

    See identical proteins and their annotated locations for XP_011533755.1

    Conserved Domains (2) summary
    cd15893
    Location:739799
    R-SNARE_STXBP5; SNARE domain of STXBP5
    pfam08366
    Location:154
    LLGL; LLGL2
  4. XM_017010267.1XP_016865756.1  syntaxin-binding protein 5 isoform X2

RNA

  1. XR_245502.3 RNA Sequence

  2. XR_002956261.1 RNA Sequence

  3. XR_001743163.2 RNA Sequence

  4. XR_245504.2 RNA Sequence

Support Center