STXBP1 (syntaxin binding protein 1)

2016-10-01  

Identity

HGNC
STXBP1
LOCATION
9q34.11
LOCUSID
6812
ALIAS
DEE4,MUNC18-1,N-Sec1,NSEC1,P67,RBSEC1,UNC18,unc-18A,unc18-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6812
MIM: 602926
HGNC: 11444
Ensembl: ENSG00000136854

Variants:

dbSNP: 6812
ClinVar: 6812
TCGA: ENSG00000136854
COSMIC: STXBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136854ENST00000373299P61764
ENSG00000136854ENST00000373302P61764
ENSG00000136854ENST00000476182A0A1B0GUQ2
ENSG00000136854ENST00000494254A0A096LP52
ENSG00000136854ENST00000496504A0A096LP33
ENSG00000136854ENST00000625363A0A0D9SFW6
ENSG00000136854ENST00000626333A0A0D9SFQ7
ENSG00000136854ENST00000626539A0A0D9SG72
ENSG00000136854ENST00000627871A0A0D9SEP9
ENSG00000136854ENST00000630492A0A0D9SEH5
ENSG00000136854ENST00000635950A0A1B0GWF2
ENSG00000136854ENST00000636509A0A1B0GW76
ENSG00000136854ENST00000636962A0A1B0GWF2
ENSG00000136854ENST00000637060A0A1B0GVV9
ENSG00000136854ENST00000637173A0A0D9SG72
ENSG00000136854ENST00000637464A0A1B0GTD8
ENSG00000136854ENST00000637521A0A1B0GTP9
ENSG00000136854ENST00000637953A0A1B0GVQ5
ENSG00000136854ENST00000647107A0A2R8Y5D4
ENSG00000136854ENST00000650920A0A1B0GTP9

Expression (GTEx)

0
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Norepinephrine Neurotransmitter Release CycleREACTOMER-HSA-181430
Serotonin Neurotransmitter Release CycleREACTOMER-HSA-181429
Glutamate Neurotransmitter Release CycleREACTOMER-HSA-210500
Dopamine Neurotransmitter Release CycleREACTOMER-HSA-212676
Acetylcholine Neurotransmitter Release CycleREACTOMER-HSA-264642
GABA synthesis, release, reuptake and degradationREACTOMER-HSA-888590
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382799072024Early life seizures and epileptic spasms in STXBP1-related disorders.0
384847782024Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.0
384903662024Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.0
382799072024Early life seizures and epileptic spasms in STXBP1-related disorders.0
384847782024Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.0
384903662024Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.0
363156472023Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy.8
365172392023An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1.1
368828272023Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.2
370624172023The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.2
374072642023Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.1
363156472023Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy.8
365172392023An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1.1
368828272023Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.2
370624172023The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.2

Citation

Dessen P

STXBP1 (syntaxin binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56155/stxbp1-(syntaxin-binding-protein-1)