Details for: STXBP1

Gene ID: 6812

Symbol: STXBP1

Ensembl ID: ENSG00000136854

Description: syntaxin binding protein 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.04
    Marker Score: 14079
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.58
    Marker Score: 38521
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 2.55
    Marker Score: 1319
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.53
    Marker Score: 50298
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.53
    Marker Score: 5133
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.5
    Marker Score: 94908
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 2.49
    Marker Score: 8364
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.49
    Marker Score: 19121
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.47
    Marker Score: 1446
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 2.39
    Marker Score: 12550
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.36
    Marker Score: 9767
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.3
    Marker Score: 685
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.27
    Marker Score: 2753
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.27
    Marker Score: 83718
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.24
    Marker Score: 8645
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.22
    Marker Score: 2980
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.15
    Marker Score: 6126
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.14
    Marker Score: 20142
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 2.14
    Marker Score: 11473
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.13
    Marker Score: 893
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.12
    Marker Score: 71705
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 2.08
    Marker Score: 1000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.07
    Marker Score: 127046
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.06
    Marker Score: 3459
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 2.02
    Marker Score: 4645
  • Cell Name: granule cell (CL0000120)
    Fold Change: 2.01
    Marker Score: 15177
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.01
    Marker Score: 2426
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2
    Marker Score: 20692
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.97
    Marker Score: 2766
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.91
    Marker Score: 18180
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.85
    Marker Score: 15904
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.82
    Marker Score: 7427
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.79
    Marker Score: 1068
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.77
    Marker Score: 1026
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.74
    Marker Score: 1644
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.72
    Marker Score: 694
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.71
    Marker Score: 566
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.67
    Marker Score: 14693
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.63
    Marker Score: 4658
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.63
    Marker Score: 6808
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.62
    Marker Score: 2503
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.62
    Marker Score: 1864
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.62
    Marker Score: 442
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.61
    Marker Score: 618
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.56
    Marker Score: 815
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.56
    Marker Score: 33190
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.51
    Marker Score: 847
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.49
    Marker Score: 1668
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168413
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.4
    Marker Score: 438
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.37
    Marker Score: 435
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.31
    Marker Score: 440
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.26
    Marker Score: 948
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.21
    Marker Score: 355
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.15
    Marker Score: 7527
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.14
    Marker Score: 18316
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.11
    Marker Score: 17429
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.1
    Marker Score: 252
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.08
    Marker Score: 1737
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.07
    Marker Score: 399
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.07
    Marker Score: 621
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.06
    Marker Score: 522
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.01
    Marker Score: 773
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 1.01
    Marker Score: 571
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1
    Marker Score: 5253
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71766
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47991
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.99
    Marker Score: 223
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 497
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.96
    Marker Score: 2270
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 451
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.95
    Marker Score: 2090
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.95
    Marker Score: 1933
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2410
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.95
    Marker Score: 527
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2728
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.91
    Marker Score: 596
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.9
    Marker Score: 505
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5049
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.88
    Marker Score: 1099
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.87
    Marker Score: 1665.5
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.85
    Marker Score: 275
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.85
    Marker Score: 205
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.85
    Marker Score: 917
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.85
    Marker Score: 3548
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.84
    Marker Score: 926
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.83
    Marker Score: 1203
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.82
    Marker Score: 1023
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.81
    Marker Score: 257
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.81
    Marker Score: 1004.5
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.81
    Marker Score: 1114
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.8
    Marker Score: 254
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.8
    Marker Score: 476
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8
    Marker Score: 3361
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.79
    Marker Score: 4758
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 311
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.78
    Marker Score: 366

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Other Information

**Key Characteristics** 1. **Expression Pattern**: STXBP1 is highly expressed in neurons, particularly in inhibitory interneurons, with significant expression in the brain and spinal cord. 2. **Function**: STXBP1 acts as a binding protein for syntaxin, regulating SNARE complex assembly and vesicle fusion, which is essential for neurotransmitter release. 3. **Pathways**: STXBP1 is involved in various signaling pathways, including the acetylcholine neurotransmitter release cycle, dopamine neurotransmitter release cycle, and glutamate neurotransmitter release cycle. 4. **Cellular Localization**: STXBP1 is primarily localized to the cytosol and presynaptic active zone of neurons. **Pathways and Functions** 1. **Neurotransmitter Release Cycle**: STXBP1 regulates the SNARE complex assembly and vesicle fusion, which is essential for neurotransmitter release at synapses. 2. **Synaptic Function**: STXBP1 plays a crucial role in regulating synaptic transmission, including long-term synaptic depression and excitatory postsynaptic potentiation. 3. **Cellular Response to Interferons**: STXBP1 is involved in the cellular response to type II interferons, which is essential for regulating immune responses. 4. **Energy Metabolism**: STXBP1 regulates energy metabolism in neurons, particularly in the context of synaptic activity. **Clinical Significance** 1. **Epilepsy**: Mutations in STXBP1 have been associated with genetic epilepsy with tonic-clonic seizures (GETS). 2. **Schizophrenia**: STXBP1 has been implicated in the pathogenesis of schizophrenia, with some studies suggesting that genetic variants in STXBP1 may contribute to the risk of developing the disorder. 3. **Neurodevelopmental Disorders**: STXBP1 has been associated with various neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. 4. **Neurodegenerative Disorders**: STXBP1 may play a role in the pathogenesis of neurodegenerative disorders, including Alzheimer's disease and Parkinson's disease. In conclusion, STXBP1 is a critical gene involved in various cellular processes, including neurotransmitter release, synaptic function, and energy metabolism. Mutations in STXBP1 have been associated with various neurological disorders, highlighting the importance of this gene in maintaining normal brain function. Further studies are needed to fully elucidate the role of STXBP1 in health and disease.

Genular Protein ID: 2095627506

Symbol: STXB1_HUMAN

Name: Syntaxin-binding protein 1

UniProtKB Accession Codes:

P61764 B1AM97 Q28208 Q62759 Q64320 Q68CM6 Q96TG8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 57 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 8 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 2 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8824310

Title: A murine neural-specific homolog corrects cholinergic defects in Caenorhabditis elegans unc-18 mutants.

PubMed ID: 8824310

DOI: 10.1523/jneurosci.16-21-06695.1996

PubMed ID: 9545644

Title: Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.

PubMed ID: 9545644

DOI: 10.1006/geno.1997.5202

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12730201

Title: Ca2+-dependent phosphorylation of syntaxin-1A by the death-associated protein (DAP) kinase regulates its interaction with Munc18.

PubMed ID: 12730201

DOI: 10.1074/jbc.m300492200

PubMed ID: 27597756

Title: Munc18-1 is a molecular chaperone for alpha-synuclein, controlling its self-replicating aggregation.

PubMed ID: 27597756

DOI: 10.1083/jcb.201512016

PubMed ID: 18469812

Title: De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

PubMed ID: 18469812

DOI: 10.1038/ng.150

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 20887364

Title: STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.

PubMed ID: 20887364

DOI: 10.1111/j.1528-1167.2010.02728.x

PubMed ID: 21770924

Title: Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

PubMed ID: 21770924

DOI: 10.1111/j.1528-1167.2011.03181.x

PubMed ID: 23662938

Title: Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PubMed ID: 23662938

DOI: 10.1111/epi.12203

PubMed ID: 23708187

Title: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PubMed ID: 23708187

DOI: 10.1038/ng.2646

PubMed ID: 24170257

Title: A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.

PubMed ID: 24170257

DOI: 10.1177/0883073813506936

PubMed ID: 24623842

Title: GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PubMed ID: 24623842

DOI: 10.1212/wnl.0000000000000291

PubMed ID: 25818041

Title: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PubMed ID: 25818041

DOI: 10.1111/epi.12954

PubMed ID: 25714420

Title: A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

PubMed ID: 25714420

DOI: 10.1097/wnr.0000000000000337

PubMed ID: 26993267

Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PubMed ID: 26993267

DOI: 10.1136/jmedgenet-2015-103263

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

Sequence Information:

  • Length: 594
  • Mass: 67569
  • Checksum: 2DD0715F875CE0F3
  • Sequence:
    • MAPIGLKAVV GEKIMHDVIK KVKKKGEWKV LVVDQLSMRM LSSCCKMTDI MTEGITIVED 
INKRREPLPS LEAVYLITPS EKSVHSLISD FKDPPTAKYR AAHVFFTDSC PDALFNELVK 
SRAAKVIKTL TEINIAFLPY ESQVYSLDSA DSFQSFYSPH KAQMKNPILE RLAEQIATLC 
ATLKEYPAVR YRGEYKDNAL LAQLIQDKLD AYKADDPTMG EGPDKARSQL LILDRGFDPS 
SPVLHELTFQ AMSYDLLPIE NDVYKYETSG IGEARVKEVL LDEDDDLWIA LRHKHIAEVS 
QEVTRSLKDF SSSKRMNTGE KTTMRDLSQM LKKMPQYQKE LSKYSTHLHL AEDCMKHYQG 
TVDKLCRVEQ DLAMGTDAEG EKIKDPMRAI VPILLDANVS TYDKIRIILL YIFLKNGITE 
ENLNKLIQHA QIPPEDSEII TNMAHLGVPI VTDSTLRRRS KPERKERISE QTYQLSRWTP 
IIKDIMEDTI EDKLDTKHYP YISTRSSASF STTAVSARYG HWHKNKAPGE YRSGPRLIIF 
ILGGVSLNEM RCAYEVTQAN GKWEVLIGST HILTPQKLLD TLKKLNKTDE EISS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.