RBCC Red Blood Cell Collection

STXB1_HUMAN

Source: PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: STXBP1 , UNC18A
Protein names and data: STXB1_HUMAN , Syntaxin-binding protein 1 , MUNC18-1; N-Sec1; Protein unc-18 homolog 1; Unc18-1; Protein unc-18 homolog A; Unc-18A; p67 Lenght: 594 a.a.
Mass: 67569 Da
fasta formatted sequence
Function: May participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions.
Disease: ( OMIM: 602926 612164 ) Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high- voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound mental retardation, and MRI evidence of brain hypomyelination. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Membrane; Peripheral membrane protein.
Tissue specificity: Brain and spinal cord. Highly enriched in axons.

Genetic variants

84 - 84 V -> D (in EIEE4; may alter protein structure). VAR_046205
180 - 180 C -> Y (in EIEE4; reduced thermostability; decreased binding to STX1A). VAR_046206
443 - 443 M -> R (in EIEE4; may alter protein structure). VAR_046207
544 - 544 G -> D (in EIEE4; may alter protein structure). VAR_046208

Database cross-references

UniProt: P61764
Ensembl: ENST00000373299
Ensembl: ENST00000373302
MIM: 602926
MIM: 612164
neXtProt: NX_P61764
Antibodypedia: P61764 (may not find the protein thus also not any antibody)
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