Details for: STXBP1

Gene ID: 6812

Symbol: STXBP1

Ensembl ID: ENSG00000136854

Description: syntaxin binding protein 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 333.5364
    Cell Significance Index: -51.8800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 205.6036
    Cell Significance Index: -52.1500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 92.4538
    Cell Significance Index: -37.5600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 42.3454
    Cell Significance Index: -52.2100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 39.2985
    Cell Significance Index: -37.5200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 13.2512
    Cell Significance Index: -52.2900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.8687
    Cell Significance Index: -19.4100
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 6.1236
    Cell Significance Index: 47.2000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 5.2240
    Cell Significance Index: 329.2600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 4.6622
    Cell Significance Index: 79.9000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 4.4968
    Cell Significance Index: 55.7800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 3.0455
    Cell Significance Index: 204.7800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.8866
    Cell Significance Index: 579.0500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.7924
    Cell Significance Index: 1001.6000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 2.6842
    Cell Significance Index: 76.6000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 2.1282
    Cell Significance Index: 51.0400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 2.0356
    Cell Significance Index: 125.1200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.0098
    Cell Significance Index: 105.5200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.9659
    Cell Significance Index: 102.4000
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.7324
    Cell Significance Index: 23.1100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.6296
    Cell Significance Index: 1127.0900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.5293
    Cell Significance Index: 57.9100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.1946
    Cell Significance Index: 52.8400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9463
    Cell Significance Index: 854.4300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.8358
    Cell Significance Index: 18.3000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5244
    Cell Significance Index: 85.2900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5242
    Cell Significance Index: 40.2300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.4653
    Cell Significance Index: 9.9500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3962
    Cell Significance Index: 43.0900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3591
    Cell Significance Index: 71.2600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.3046
    Cell Significance Index: 414.2000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2944
    Cell Significance Index: 16.5200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2163
    Cell Significance Index: 41.1700
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.2094
    Cell Significance Index: 3.3600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2078
    Cell Significance Index: 319.9100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1838
    Cell Significance Index: 338.9900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1683
    Cell Significance Index: 316.8300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1589
    Cell Significance Index: 15.7200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1178
    Cell Significance Index: 7.0700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1044
    Cell Significance Index: 7.2200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0874
    Cell Significance Index: 55.5000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0775
    Cell Significance Index: 42.3000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0633
    Cell Significance Index: 11.4100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0428
    Cell Significance Index: 0.5100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0310
    Cell Significance Index: 13.7200
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.0216
    Cell Significance Index: 0.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0114
    Cell Significance Index: 1.5600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0028
    Cell Significance Index: -0.0800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0031
    Cell Significance Index: -2.2700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0061
    Cell Significance Index: -2.7600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0096
    Cell Significance Index: -5.9800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0151
    Cell Significance Index: -11.4400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0217
    Cell Significance Index: -3.7100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0245
    Cell Significance Index: -0.8600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0418
    Cell Significance Index: -6.0800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0500
    Cell Significance Index: -36.6500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0501
    Cell Significance Index: -28.2700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0590
    Cell Significance Index: -6.8800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0684
    Cell Significance Index: -3.1000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0827
    Cell Significance Index: -1.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0919
    Cell Significance Index: -11.3000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0948
    Cell Significance Index: -19.9600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1039
    Cell Significance Index: -13.3200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1496
    Cell Significance Index: -43.0300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1665
    Cell Significance Index: -3.2500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2114
    Cell Significance Index: -4.5800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2173
    Cell Significance Index: -2.7100
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.2375
    Cell Significance Index: -2.2600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2393
    Cell Significance Index: -27.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2656
    Cell Significance Index: -34.3100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2917
    Cell Significance Index: -33.3000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3144
    Cell Significance Index: -10.0700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.3179
    Cell Significance Index: -32.4700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3365
    Cell Significance Index: -35.0400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3425
    Cell Significance Index: -7.2700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3883
    Cell Significance Index: -45.7900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3960
    Cell Significance Index: -7.9500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4117
    Cell Significance Index: -8.1400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.4437
    Cell Significance Index: -12.4000
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.4553
    Cell Significance Index: -4.9600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4842
    Cell Significance Index: -15.4200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4875
    Cell Significance Index: -29.8900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4946
    Cell Significance Index: -36.8600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4955
    Cell Significance Index: -6.7600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5067
    Cell Significance Index: -16.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.5098
    Cell Significance Index: -23.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5239
    Cell Significance Index: -41.4900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5413
    Cell Significance Index: -25.2400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.5419
    Cell Significance Index: -6.8400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.5570
    Cell Significance Index: -39.3900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.6055
    Cell Significance Index: -12.5600
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: -0.6198
    Cell Significance Index: -5.4600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.6700
    Cell Significance Index: -14.4800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.6924
    Cell Significance Index: -9.9200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.7063
    Cell Significance Index: -45.5700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.7326
    Cell Significance Index: -21.0000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.8043
    Cell Significance Index: -41.7800
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.8233
    Cell Significance Index: -9.9800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.8609
    Cell Significance Index: -18.3400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.9004
    Cell Significance Index: -22.4600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

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:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.