STX1B syntaxin 1B [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (30989256..31010638, complement)
RS_2023_10	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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features.
Title: Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features.
Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.
Title: Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.
These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies. More often, loss-of-function mutations were found in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes.
Title: Clinical spectrum of STX1B-related epileptic disorders.
Strong deregulation of SNAP25 and STX1B has been found at both mRNA and protein levels suggesting impaired synaptic function through SNAP25 reduction as a possible cause of calcium elevation and glutamate excitotoxicity in amyotrophic lateral sclerosis.
Title: Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS.
that a sleep-related hypermotor epilepsy phenotype can be associated with syntaxin-1B gene mutation
Title: Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation.
genetic variations in STX1B, DNMT3A and CYP1A1 have roles in influencing warfarin maintenance dose
Title: Identification of novel variants associated with warfarin stable dosage by use of a two-stage extreme phenotype strategy.
Transcranial magnetic stimulation measures of motor cortex excitability show normal excitability in adult STX1B mutation carriers with a history of seizures.
Title: Motor cortex excitability in seizure-free STX1B mutation carriers with a history of epilepsy and febrile seizures.
529 adults (n = 325 European-Americans, 204 Egyptians) on a stable warfarin dose were genotyped for GGCX rs12714145 and rs10654848, FPGS rs7856096, and STX1B rs4889606.
Title: Impact of GGCX, STX1B and FPGS Polymorphisms on Warfarin Dose Requirements in European-Americans and Egyptians.
Findings suggested that STX1B rs4889603, FAM47E rs6812193 and SCARB2 rs6825004 do not confer a significant risk for Parkinson's disease
Title: No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 polymorphisms with Parkinson's disease in a Chinese Han population.
The data of this study suggested that the STX1B polymorphisms are associated with Parkinson disease etiology.
Title: The RIT2 and STX1B polymorphisms are associated with Parkinson's disease.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH28513 (e-PCR)
- UniSTS:87817

RH12292 (e-PCR)
- UniSTS:85286

RH70099 (e-PCR)
- UniSTS:89452

D1S1423 (e-PCR)
- UniSTS:149619

RH78319 (e-PCR)
- UniSTS:88990

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNAP receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables SNARE binding	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
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 gene expression	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	IEA Inferred from Electronic Annotation more info
involved_in vesicle docking	IBA Inferred from Biological aspect of Ancestor more info
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

Component	Evidence Code	Pubs
part_of SNARE complex	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in centrosome	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
located_in membrane	ISS Inferred from Sequence or Structural Similarity 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
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: syntaxin-1B

Names: syntaxin-1B1; syntaxin-1B2

NCBI Reference Sequences (RefSeq)

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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.