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    STX1B syntaxin 1B [ Homo sapiens (human) ]

    Gene ID: 112755, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STX1B in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30989256..31010638, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31376698..31398083, complement)
    RS_2024_09 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30968383-30969146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7406 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30974870-30975017 Neighboring gene SET domain containing 1A, histone lysine methyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30995997-30996509 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30999355-30999854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31001361-31002004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31002005-31002648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10743 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7407 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31011808-31012308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31012309-31012809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31021995-31022496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31044203-31044714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31045227-31045737 Neighboring gene syntaxin 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31074971-31075598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31075599-31076226 Neighboring gene zinc finger protein 668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31084437-31085237 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31085443-31085976 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

    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 IBA
    Inferred from Biological aspect of Ancestor
    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
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 nuclear lamina IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    is_active_in presynaptic active zone membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in presynaptic active zone membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
     

    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_041829.2 RefSeqGene

      Range
      5000..26382
      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, Q15531, Q2VPS2
      Related
      ENSP00000215095.5, ENST00000215095.11
      Conserved Domains (2) summary
      pfam00804
      Location:29226
      Syntaxin
      pfam05739
      Location:227278
      SNARE; SNARE domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)

    mRNA and Protein(s)

    1. XM_054379476.1XP_054235451.1  syntaxin-1B isoform X1