STXBP1

GENERAL INFORMATION

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Gene name

STXBP1

Gene description

Syntaxin binding protein 1

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (cerebral cortex)
GTEx:Group enriched (cerebellum, cerebral cortex, hippocampus)

Protein evidence

Evidence at protein level

Protein localization

Selective expression in CNS, peripheral nerves and pancreatic islets.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 3 antibodies.
HPA008209 , HPA023483 , CAB034434
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum, cerebral cortex, hippocampus)

Organ

Expression



GENE INFORMATION

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Gene name

STXBP1 (HGNC Symbol)

Synonyms

hUNC18, MUNC18-1, rbSec1, UNC18

Description

Syntaxin binding protein 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

Chromosome

9

Cytoband

q34.11

Chromosome location (bp)

127612265 - 127692716

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000136854 (version 78.38)

Entrez gene

6812

UniProt

P61764 (UniProt - Evidence at protein level)

neXtProt

NX_P61764

Antibodypedia

STXBP1 antibodies


PROTEIN BROWSER

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ENST00000373299
 
ENST00000373302
 
ENST00000494254
 
ENST00000496504
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

STXBP1-001 ENSP00000362399
ENST00000373302
P61764
Show all »
Show » Show » 603 68.7 No 0
STXBP1-002 ENSP00000362396
ENST00000373299
P61764
Show all »
Show » Show » 594 67.6 No 0
STXBP1-003 ENSP00000485361
ENST00000496504
Show » Show » 64 7.3 No 0
STXBP1-005 ENSP00000485397
ENST00000494254
Show » Show » 119 13.6 No 0