| First Author | Swanson DA | Year | 1998 |
| Journal | Genomics | Volume | 48 |
| Issue | 3 | Pages | 373-6 |
| PubMed ID | 9545644 | Mgi Jnum | J:47236 |
| Mgi Id | MGI:1202821 | Doi | 10.1006/geno.1997.5202 |
| Citation | Swanson DA, et al. (1998) Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. Genomics 48(3):373-6 |
| abstractText | 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. |
