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

Gene ID: 134957, updated on 11-Apr-2024

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; AllianceGenome:HGNC:19665
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
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
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Genomic context

Location:
6q24.3
Exon count:
34
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (147204417..147390473)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (148397706..148583768)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (147525553..147711609)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene STXBP5 antisense RNA 1 Neighboring gene uncharacterized LOC124901422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17649 Neighboring gene lung adenocarcinoma associated transcript 1 Neighboring gene MPRA-validated peak6197 silencer Neighboring gene MPRA-validated peak6199 silencer Neighboring gene MPRA-validated peak6200 silencer Neighboring gene uncharacterized LOC124901421 Neighboring gene uncharacterized LOC105378043 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:147759841-147760442 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:147760443-147761044 Neighboring gene YAP1 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

EBI GWAS Catalog

Description
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
EBI GWAS Catalog
Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
EBI GWAS Catalog
Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.
EBI GWAS 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.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ30922, MGC141942, MGC141968

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables myosin II binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables syntaxin-1 binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in Golgi to plasma membrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of exocytosis TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic vesicle priming IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of acetylcholine-gated channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in extrinsic component of neuronal dense core vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in 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)

NEW Try the new Transcript table

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_001127715.4NP_001121187.1  syntaxin-binding protein 5 isoform b

    See identical proteins and their annotated locations for NP_001121187.1

    Status: VALIDATED

    Source sequence(s)
    AL355365, AL356415, AL590709
    Consensus CDS
    CCDS47499.1
    UniProtKB/Swiss-Prot
    Q14DF3, Q5T5C0, Q5T5C1, Q5T5C2, Q8NBG8, Q96NG9
    UniProtKB/TrEMBL
    Q14DD4
    Related
    ENSP00000321826.6, ENST00000321680.11
    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_001394409.1NP_001381338.1  syntaxin-binding protein 5 isoform c

    Status: VALIDATED

    Source sequence(s)
    AL355365, AL356415, AL590709
    UniProtKB/TrEMBL
    H0Y332, Q14DD4
    Related
    ENSP00000356445.3, ENST00000367475.7
    Conserved Domains (5) summary
    COG2319
    Location:236538
    WD40; WD40 repeat [General function prediction only]
    cd15893
    Location:10681128
    R-SNARE_STXBP5; SNARE domain of STXBP5
    sd00039
    Location:6194
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:275383
    LLGL; LLGL2
    cl29593
    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 ...
  3. NM_139244.6NP_640337.3  syntaxin-binding protein 5 isoform a

    See identical proteins and their annotated locations for NP_640337.3

    Status: VALIDATED

    Source sequence(s)
    AL355365, AL356415, AL590709
    Consensus CDS
    CCDS5211.1
    UniProtKB/TrEMBL
    Q14DD4
    Related
    ENSP00000356451.3, ENST00000367481.7
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    147204417..147390473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418197.1XP_047274153.1  syntaxin-binding protein 5 isoform X1

  2. XM_047418198.1XP_047274154.1  syntaxin-binding protein 5 isoform X2

  3. XM_047418199.1XP_047274155.1  syntaxin-binding protein 5 isoform X3

  4. XM_047418202.1XP_047274158.1  syntaxin-binding protein 5 isoform X6

  5. XM_047418204.1XP_047274160.1  syntaxin-binding protein 5 isoform X8

  6. XM_047418203.1XP_047274159.1  syntaxin-binding protein 5 isoform X7

    UniProtKB/TrEMBL
    A0A9L9PXY2
    Related
    ENSP00000516592.1, ENST00000706851.1
  7. XM_047418205.1XP_047274161.1  syntaxin-binding protein 5 isoform X10

  8. XM_017010268.3XP_016865757.1  syntaxin-binding protein 5 isoform X9

  9. XM_047418200.1XP_047274156.1  syntaxin-binding protein 5 isoform X4

  10. XM_047418201.1XP_047274157.1  syntaxin-binding protein 5 isoform X5

RNA

  1. XR_007059202.1 RNA Sequence

  2. XR_007059201.1 RNA Sequence

  3. XR_007059203.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    148397706..148583768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354260.1XP_054210235.1  syntaxin-binding protein 5 isoform X1

  2. XM_054354261.1XP_054210236.1  syntaxin-binding protein 5 isoform X2

  3. XM_054354262.1XP_054210237.1  syntaxin-binding protein 5 isoform X3

  4. XM_054354265.1XP_054210240.1  syntaxin-binding protein 5 isoform X6

  5. XM_054354267.1XP_054210242.1  syntaxin-binding protein 5 isoform X8

  6. XM_054354266.1XP_054210241.1  syntaxin-binding protein 5 isoform X7

    UniProtKB/TrEMBL
    A0A9L9PXY2
  7. XM_054354269.1XP_054210244.1  syntaxin-binding protein 5 isoform X10

  8. XM_054354268.1XP_054210243.1  syntaxin-binding protein 5 isoform X9

  9. XM_054354263.1XP_054210238.1  syntaxin-binding protein 5 isoform X4

  10. XM_054354264.1XP_054210239.1  syntaxin-binding protein 5 isoform X5

RNA

  1. XR_008487255.1 RNA Sequence

  2. XR_008487254.1 RNA Sequence

  3. XR_008487256.1 RNA Sequence