Identification and Characterization of the Human Ortholog of Rat STXBP1, a Protein Implicated in Vesicle Trafficking and Neurotransmitter Release |
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| Authors: | Deborah A. Swanson Jason M. Steel David Valle |
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| Affiliation: | aVisual Neuroscience Training Program, The Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205;cHoward Hughes Medical Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205;bDepartment of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205 |
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| Abstract: | 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 toDrosophilaRop (64% aa identity) andCaenorhabditis elegansUNC-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. |
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