Gene Symbol: HS1BP3
Description: HCLS1 binding protein 3
Alias: ETM2, HS1-BP3, HCLS1-binding protein 3, HS1-binding protein 3, HSP1BP-3
Holland P, Knævelsrud H, Søreng K, Mathai B, Lystad A, Pankiv S, et al
. HS1BP3 negatively regulates autophagy by modulation of phosphatidic acid levels. Nat Commun. 2016;7:13889 pubmed publisher
A fundamental question is how autophagosome formation is regulated. Here we show that the PX domain protein HS1BP3 is a negative regulator of autophagosome formation...
Furfari A, Wan B, Ding K, Wong A, Zhu L, Bezjak A, et al
. Genetic biomarkers associated with changes in quality of life and pain following palliative radiotherapy in patients with bone metastases. Ann Palliat Med. 2017;6:S248-S256 pubmed publisher
..The multivariable model predicting global QOL included 14 SNVs, of which HS1BP3 rs35579164 G:C and ABCA1 rs2230805 C>T had the largest positive and negative effect sizes, respectively (HS1BP3:..
Takemoto Y, Furuta M, Sato M, Kubo M, Hashimoto Y. Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3. Int Immunol. 1999;11:1957-64 pubmed
We have isolated a novel gene, HS1BP3, which encodes an HS1 binding protein...
Keeling B, Vilariño Güell C, Ross O, Wszolek Z, Uitti R, Farrer M. DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. Neurosci Lett. 2009;461:74-5 pubmed publisher
Variants in the dopamine receptor D3 (DRD3) and HCLS1 binding protein 3 (HS1BP3) have been nominated as risk factors for essential tremor (ET)...
Shi T, Xie J, Xiong Y, Deng W, Guo J, Wang F, et al
. Human HS1BP3 induces cell apoptosis and activates AP-1. BMB Rep. 2011;44:381-6 pubmed publisher
In the present study, we characterized the function of HS1-binding protein 3 (HS1BP3), which is mutated in essential tremor and may be involved in lymphocyte activation...
Higgins J, Lombardi R, Pucilowska J, Jankovic J, Tan E, Rooney J. A variant in the HS1-BP3 gene is associated with familial essential tremor. Neurology. 2005;64:417-21 pubmed
Deng H, Le W, Guo Y, Huang M, Xie W, Jankovic J. Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. Neurology. 2005;65:651-2 pubmed