Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release

Genomics
D A SwansonD Valle

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 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.

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Citations

Jun 10, 2005·Molecular Biology of the Cell·Cemal GurkanWilliam E Balch
Oct 1, 2004·Molecular and Cellular Biology·Shunbin XuDavid Valle
Oct 19, 2006·BMC Developmental Biology·Samuel Shao-Min ZhangXin-Yuan Fu
Feb 13, 2016·Neurology·Hannah StambergerSarah Weckhuysen
Nov 18, 2006·Proteomics·Spyros Petrakis, Theodoros Sklaviadis
Sep 7, 2005·Neurobiology of Disease·Renee M MillerHoward J Federoff
Oct 4, 2017·Expert Opinion on Therapeutic Targets·Hannah StambergerPeter De Jonghe
Nov 29, 2005·Molecular Diversity·Jae-Won YangGert Lubec
Aug 15, 2019·International Journal of Molecular Sciences·Silvia VidalJudith Armstrong
Sep 16, 2020·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Yijia ZhangNa Zhang
Feb 24, 2017·Current Neurology and Neuroscience Reports·Markus von DeimlingEric D Marsh
Apr 2, 2003·Trends in Cell Biology·Ruud F G Toonen, Matthijs Verhage
Jun 25, 2021·Frontiers in Neurology·Xianyu LiuJing Chen
Aug 15, 2021·Epilepsy & Behavior : E&B·Guihai SuoYoujia Wu
May 18, 2019·Revue neurologique·M MilhJ Denis

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