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Gene Symbol |
STXBP1 |
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Aliases |
MUNC18-1, N-Sec1, NSEC1, P67, RBSEC1, UNC18, unc-18A, unc18-1 |
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Entrez Gene ID |
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Gene Name |
Syntaxin binding protein 1 |
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Chromosomal Location |
9q34.11 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
NM_001032221.5, NM_003165.6, NM_001032221.6, NM_001374306.2, NM_001374307.2, NM_001374308.2, NM_001374309.2, NM_001374310.2, NM_001374311.2, NM_001374312.2, NM_001374313.2, NM_001374314.1, NM_001374315.2 |
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e!Ensembl
| Gene |
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| Transcript |
ENST00000637521, ENST00000625363, ENST00000636509, ENST00000626539, ENST00000373302, ENST00000637953, ENST00000635950, ENST00000636962, ENST00000637464, ENST00000637060, ENST00000637173, ENST00000630492, ENST00000627871, ENST00000373299, ENST00000650920, ENST00000476182, ENST00000626333, ENST00000647107, ENST00000496504, ENST00000494254 |
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| Protein |
ENSP00000489791, ENSP00000486944, ENSP00000490810, ENSP00000487211, ENSP00000362399, ENSP00000490613, ENSP00000490903, ENSP00000489762, ENSP00000489655, ENSP00000490674, ENSP00000490519, ENSP00000485680, ENSP00000485895, ENSP00000362396, ENSP00000498834, ENSP00000490199, ENSP00000486814, ENSP00000494727, ENSP00000485361, ENSP00000485397
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| Protein Information |
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Protein Name |
Syntaxin-binding protein 1, neuronal SEC1, protein unc-18 homolog 1, protein unc-18 homolog A |
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Function |
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Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins (By similarity). Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions. |
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NP_001027392.1, NP_003156.1, NP_001361235.1, NP_001361236.1, NP_001361237.1, NP_001361238.1, NP_001361239.1, NP_001361240.1, NP_001361241.1, NP_001361242.1, NP_001361243.1, NP_001361244.1
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UniProt |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF00995 |
Sec1 |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000225512 |
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P56703 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Genetic Diseases |
21762454, 24623842, 22722545, 18469812, 23409955, 21770924, 26514728, 21364700, 20876469, 25621899, 26537360, 20887364, 9545644, 21062273, 27184330, 16829045, 19557857, 20196795, 17301226, 22495311, 23020937, 25714420, 16806828, 26865513, 24836964, 25914188, 21204804 |
| Endocrine System Diseases |
| PCOS |
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| Eye Diseases |
| Horizontal Nystagmus |
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| Strabismus |
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| Musculoskeletal Diseases |
| Infantile Spasm |
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| Nervous System Diseases |
| Encephalopathies |
20887364, 18414213, 24189369, 21770924, 19557857, 27905812, 23662938, 25714420, 24781210, 26865513, 25741868, 25818041, 23409955, 21762454, 24315539, 23934111, 24623842, 22612257, 26993267, 27069701, 23891399, 18469812, 26514728, 26795593, 25497044, 24170257, 23708187, 258, 24033266, 28387369, 28492532, 26648591, 26918652, 27171548, 28947817, 27779742 |
| Epilepsy |
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| Psychiatric/Brain disorders |
| Schizophrenia |
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| Neurodevelopmental Disorders |
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References |
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| Shim Unjin, Kim Han-Na, Lee Hyejin, Oh Jee-Young, Sung Yeon-Ah, Kim Hyung-Lae |
| Department of Internal Medicine, Seoul Seonam Hospital, Ewha Womans University Medical Center, Seoul, Korea.| Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, Korea. |
| PLoS One. 2015 Aug 26;10(8):e0136609. doi: 10.1371/journal.pone.0136609. |
Abstract
BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, and it is affected by both environmental and genetic factors. Although the genetic component of PCOS is evident, studies aiming to identify susceptibility genes have shown controversial results. This study conducted a pathway-based analysis using a dataset obtained through a genome-wide association study (GWAS) to elucidate the biological pathways that contribute to PCOS susceptibility and the associated genes. METHODS: We used GWAS data on 636,797 autosomal single nucleotide polymorphisms (SNPs) from 1,221 individuals (432 PCOS patients and 789 controls) for analysis. A pathway analysis was conducted using meta-analysis gene-set enrichment of variant associations (MAGENTA). Top-ranking pathways or gene sets associated with PCOS were identified, and significant genes within the pathways were analyzed. RESULTS: The pathway analysis of the GWAS dataset identified significant pathways related to oocyte meiosis and the regulation of insulin secretion by acetylcholine and free fatty acids (all nominal gene-set enrichment analysis (GSEA) P-values < 0.05). In addition, INS, GNAQ, STXBP1, PLCB3, PLCB2, SMC3 and PLCZ1 were significant genes observed within the biological pathways (all gene P-values < 0.05). CONCLUSIONS: By applying MAGENTA pathway analysis to PCOS GWAS data, we identified significant pathways and candidate genes involved in PCOS. Our findings may provide new leads for understanding the mechanisms underlying the development of PCOS. |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412
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