| http://purl.uniprot.org/citations/9545644 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9545644 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9545644 | http://www.w3.org/2000/01/rdf-schema#comment | "In a screen designed to identify genes expressed preferentially in retina, we identified a cDNA encoding the human ortholog of rat STXBP1 (n-Sec1, Munc-18-1, rbSec1), a protein implicated in vesicle trafficking and neurotransmitter release. This protein also has similarity to Drosophila Rop (65% aa identity) and Caenorhabditis elegans UNC-18 (58% aa identity). The major human cDNA encodes a protein of 594 amino acids which has 100 % amino acid identity with its rat and murine counterparts. Additionally, there is an alternative splice form in humans, arising from the inclusion of an additional exon, which encodes a protein of 603 amino acids and is also 100% identical to the corresponding rat isoform. We found expression of the shorter cDNA in all tissues and cell lines we examined with highest levels in retina and cerebellum. By RT-PCR analysis, we found expression of the longer cDNA in neural tissues only. We mapped the structural gene to 9q34.1, a region without obvious candidate phenotypes. However, due to its evolutionary conservation and abundant expression in retina and brain, STXBP1 should be considered a candidate gene for retinal and/or neural disorders mapping to 9q34.1."xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1997.5202"xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1997.5202"xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/author | "Valle D."xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/author | "Valle D."xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/author | "Swanson D.A."xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/author | "Swanson D.A."xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/author | "Steel J.M."xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/author | "Steel J.M."xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/pages | "373-376"xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/pages | "373-376"xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/title | "Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release."xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/title | "Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release."xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/volume | "48"xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://purl.uniprot.org/core/volume | "48"xsd:string |
| http://purl.uniprot.org/citations/9545644 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9545644 |
| http://purl.uniprot.org/citations/9545644 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9545644 |
| http://purl.uniprot.org/citations/9545644 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/9545644 |
| http://purl.uniprot.org/citations/9545644 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/9545644 |