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STX1B syntaxin 1B [ Homo sapiens (human) ]

Gene ID: 112755, updated on 13-May-2022

Summary

Official Symbol
STX1Bprovided by HGNC
Official Full Name
syntaxin 1Bprovided by HGNC
Primary source
HGNC:HGNC:18539
See related
Ensembl:ENSG00000099365 MIM:601485; AllianceGenome:HGNC:18539
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
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Genomic context

See STX1B in Genome Data Viewer
Location:
16p11.2
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30989256..31010638, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31376698..31398083, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31000577..31021959, 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 syntaxin 4 Neighboring gene zinc finger protein 668 Neighboring gene Sharpr-MPRA regulatory region 2047 Neighboring gene zinc finger protein 646

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

Associated conditions

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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.

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, ENST00000215095.11
    Conserved Domains (2) summary
    pfam00804
    Location:29226
    Syntaxin
    pfam05739
    Location:227278
    SNARE; SNARE domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017022893.2XP_016878382.1  syntaxin-1B isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    31376698..31398083 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)