STX1B
Syntaxin-1B
Also known as: STX1B_HUMAN, STX1B1, STX1B2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P61266
- Gene
- STX1B
- Ensembl
- ENSG00000099365
- Chromosome
- 16
- Canonical length
- 288 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nuclear membrane,Vesicles
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
288 residues, UniProt reviewed canonical sequence.
>P61266|STX1B
1 MKDRTQELRS AKDSDDEEEV VHVDRDHFMD EFFEQVEEIR GCIEKLSEDV EQVKKQHSAI
61 LAAPNPDEKT KQELEDLTAD IKKTANKVRS KLKAIEQSIE QEEGLNRSSA DLRIRKTQHS
121 TLSRKFVEVM TEYNATQSKY RDRCKDRIQR QLEITGRTTT NEELEDMLES GKLAIFTDDI
181 KMDSQMTKQA LNEIETRHNE IIKLETSIRE LHDMFVDMAM LVESQGEMID RIEYNVEHSV
241 DYVERAVSDT KKAVKYQSKA RRKKIMIIIC CVVLGVVLAS SIGGTLGLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against STX1B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 141 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 141 nTPM
- cerebral cortex: 102 nTPM
- basal ganglia: 52 nTPM
- amygdala: 46 nTPM
- hippocampal formation: 46 nTPM
- hypothalamus: 43 nTPM
Single-cell type
- retinal amacrine cells: 71 nCPM
- brain excitatory neurons: 61 nCPM
- brain inhibitory neurons: 48 nCPM
- other brain neurons: 38 nCPM
- retinal horizontal cells: 34 nCPM
- epicardial cells: 27 nCPM
Immune cell
- memory CD4 T-cell: 0.2 nTPM
- basophil: 0.1 nTPM
- neutrophil: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- cerebral cortex: 433 nTPM
- pons: 260 nTPM
- white matter: 256 nTPM
- cerebellum: 189 nTPM
- medulla oblongata: 183 nTPM
- hippocampal formation: 152 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about STX1B.
Disease | AllUniProt
Conditions STX1B is implicated in, by any mechanism.
- Generalized epilepsy with febrile seizures plus 9 (GEFSP9) MIM:616172
Disease | GeneticClinVar
70 pathogenic / likely-pathogenic of 444 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Generalized epilepsy with febrile seizures plus, type 9
- Inborn genetic diseases
- Neurodevelopmental disorder
- Generalized epilepsy with febrile seizures plus
- Epileptic encephalopathy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.27
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 2.94
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- calcium ion-regulated exocytosis of neurotransmitter
- exocytosis
- intracellular protein transport
- negative regulation of neuron projection development
- positive regulation of excitatory postsynaptic potential
- positive regulation of neurotransmitter secretion
- regulation of gene expression
- regulation of synaptic activity
- regulation of synaptic vesicle priming
- spontaneous neurotransmitter secretion
- synaptic vesicle docking
- synaptic vesicle fusion to presynaptic active zone membrane
- vesicle docking
- vesicle docking involved in exocytosis
- negative regulation of macropinocytosis
- negative regulation of synaptic vesicle recycling
- positive regulation of spontaneous neurotransmitter secretion
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of STX1B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads STX1B as an antibody target. Whether an autoantibody or antibody against STX1B could matter depends on whether native STX1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
STX1B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label STX1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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