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STX1B syntaxin 1B [ Homo sapiens (human) ]

Gene ID: 112755, updated on 7-Dec-2018

Summary

Official Symbol
STX1Bprovided by HGNC
Official Full Name
syntaxin 1Bprovided by HGNC
Primary source
HGNC:HGNC:18539
See related
Ensembl:ENSG00000099365 MIM:601485
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
GEFSP9; STX1B1; STX1B2
Summary
The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]
Expression
Biased expression in brain (RPKM 32.7) and testis (RPKM 1.4) See more
Orthologs

Genomic context

See STX1B in Genome Data Viewer
Location:
16p11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (30989256..31010638, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31000577..31021829, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SET domain containing 1A, histone lysine methyltransferase Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 Neighboring gene uncharacterized LOC101928762 Neighboring gene syntaxin 4

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

Associated conditions

Description Tests
Generalized epilepsy with febrile seizures plus, type 9
MedGen: C4015395 OMIM: 616172 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • LGI-ADAM interactions, organism-specific biosystem (from REACTOME)
    LGI-ADAM interactions, organism-specific biosystemSynapse formation and maturation require multiple interactions between presynaptic and postsynaptic neurons. These interactions are mediated by a diverse set of synaptogenic proteins (Kegel et al. 20...
  • Neurotoxicity of clostridium toxins, organism-specific biosystem (from REACTOME)
    Neurotoxicity of clostridium toxins, organism-specific biosystemClostridial neurotoxins, when taken up by human neurons, block synaptic transmission by cleaving proteins required for the fusion of synaptic vesicles with the plasma membrane. They are remarkably ef...
  • SNARE interactions in vesicular transport, organism-specific biosystem (from KEGG)
    SNARE interactions in vesicular transport, organism-specific biosystem
    SNARE interactions in vesicular transport
  • SNARE interactions in vesicular transport, conserved biosystem (from KEGG)
    SNARE interactions in vesicular transport, conserved biosystem
    SNARE interactions in vesicular transport
  • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
    Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
  • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
    Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Synaptic vesicle cycle, conserved biosystem (from KEGG)
    Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Toxicity of botulinum toxin type C (BoNT/C), organism-specific biosystem (from REACTOME)
    Toxicity of botulinum toxin type C (BoNT/C), organism-specific biosystemBotulinum toxin type C (BoNT/C) is only very rarely associated with human disease (Hatheway 1995) and a pathway by which it might enter the circulation from the human gut has not been described. Neve...
  • Uptake and actions of bacterial toxins, organism-specific biosystem (from REACTOME)
    Uptake and actions of bacterial toxins, organism-specific biosystemThe toxic effects of many bacteria on their human hosts are mediated by proteins released from the bacteria that enter human cells and disrupt critical cellular functions (Henkel et al. 2010). All of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SNAP receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium ion-regulated exocytosis of neurotransmitter IEA
Inferred from Electronic Annotation
more info
 
exocytic insertion of neurotransmitter receptor to postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of macropinocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of synaptic vesicle recycling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neurotransmitter secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of spontaneous neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of synaptic activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of synaptic vesicle priming ISS
Inferred from Sequence or Structural Similarity
more info
 
spontaneous neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle docking ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic vesicle fusion to presynaptic active zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle docking IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle docking involved in exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
presynaptic active zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spindle IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
syntaxin-1B
Names
syntaxin-1B1
syntaxin-1B2

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_041829.1 RefSeqGene

    Range
    4871..26253
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_052874.5NP_443106.1  syntaxin-1B

    See identical proteins and their annotated locations for NP_443106.1

    Status: REVIEWED

    Source sequence(s)
    AC135048, AC135050
    Consensus CDS
    CCDS10699.1
    UniProtKB/Swiss-Prot
    P61266
    Related
    ENSP00000215095.5, ENST00000215095.10
    Conserved Domains (2) summary
    pfam00804
    Location:29226
    Syntaxin; Syntaxin
    pfam05739
    Location:227278
    SNARE; SNARE domain

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_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    30989256..31010638 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022893.1XP_016878382.1  syntaxin-1B isoform X1

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