STXBP1 (syntaxin binding protein 1)

2016-10-01 Affiliation

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

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000136854	ENST00000373299	P61764
ENSG00000136854	ENST00000373302	P61764
ENSG00000136854	ENST00000476182	A0A1B0GUQ2
ENSG00000136854	ENST00000494254	A0A096LP52
ENSG00000136854	ENST00000496504	A0A096LP33
ENSG00000136854	ENST00000625363	A0A0D9SFW6
ENSG00000136854	ENST00000626333	A0A0D9SFQ7
ENSG00000136854	ENST00000626539	A0A0D9SG72
ENSG00000136854	ENST00000627871	A0A0D9SEP9
ENSG00000136854	ENST00000630492	A0A0D9SEH5
ENSG00000136854	ENST00000635950	A0A1B0GWF2
ENSG00000136854	ENST00000636509	A0A1B0GW76
ENSG00000136854	ENST00000636962	A0A1B0GWF2
ENSG00000136854	ENST00000637060	A0A1B0GVV9
ENSG00000136854	ENST00000637173	A0A0D9SG72
ENSG00000136854	ENST00000637464	A0A1B0GTD8
ENSG00000136854	ENST00000637521	A0A1B0GTP9
ENSG00000136854	ENST00000637953	A0A1B0GVQ5
ENSG00000136854	ENST00000647107	A0A2R8Y5D4
ENSG00000136854	ENST00000650920	A0A1B0GTP9

Expression (GTEx)

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

Pathway	Source	External ID
Synaptic vesicle cycle	KEGG	ko04721
Synaptic vesicle cycle	KEGG	hsa04721
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Release Cycle	REACTOME	R-HSA-112310
Norepinephrine Neurotransmitter Release Cycle	REACTOME	R-HSA-181430
Serotonin Neurotransmitter Release Cycle	REACTOME	R-HSA-181429
Glutamate Neurotransmitter Release Cycle	REACTOME	R-HSA-210500
Dopamine Neurotransmitter Release Cycle	REACTOME	R-HSA-212676
Acetylcholine Neurotransmitter Release Cycle	REACTOME	R-HSA-264642
GABA synthesis, release, reuptake and degradation	REACTOME	R-HSA-888590
Metabolism	REACTOME	R-HSA-1430728
Integration of energy metabolism	REACTOME	R-HSA-163685
Regulation of insulin secretion	REACTOME	R-HSA-422356
Protein-protein interactions at synapses	REACTOME	R-HSA-6794362
Interactions of neurexins and neuroligins at synapses	REACTOME	R-HSA-6794361

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18469812	2008	De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.	133
18617632	2008	Syntaxin 1A interaction with the dopamine transporter promotes amphetamine-induced dopamine efflux.	69
24623842	2014	GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.	62
17264080	2007	Functionally and spatially distinct modes of munc18-syntaxin 1 interaction.	55
18268500	2009	Proteomic analysis of membrane microdomain-associated proteins in the dorsolateral prefrontal cortex in schizophrenia and bipolar disorder reveals alterations in LAMP, STXBP1 and BASP1 protein expression.	55
25818041	2015	Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.	53
26865513	2016	STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.	45
19557857	2009	De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.	42
20471030	2010	Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.	42
19686046	2010	Redox proteomic analysis of carbonylated brain proteins in mild cognitive impairment and early Alzheimer's disease.	40

Citation

Dessen P

STXBP1 (syntaxin binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56155/stxbp1