Property Summary

NCBI Gene PubMed Count 29
Grant Count 8
R01 Count 1
Funding $2,099,522.33
PubMed Score 13.21
PubTator Score 9.81

Knowledge Summary

Patent

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  Disease Relevance (2)

Gene RIF (11)

PMID Text
25870107 Using cancer cell lines, the study shows that BLOC1S1 mRNA is specifically cleaved by IRE1 at guanine 444, but only under conditions of IRE1 hyperactivation.
25400169 The mitochondrial acetylation status controlled by Sirt3 and its proposed opponent GCN5L1 is an important regulator of the metabolic adaptation of mitochondrial translation.
23676666 The Hermansky-Pudlak syndrome complex BLOC-1 and its cargo PI4KIIalpha interact with regulators of the actin cytoskeleton.
22554196 BLOS1 interacts with KXD1.
22423091 Quantitative proteomic studies expand the functional repertoire of the BLOC-1 complex and provide insight into putative molecular pathways of schizophrenia susceptibility.
22309213 GCN5L1 interacts with and promotes acetylation of SIRT3 respiratory chain targets and reverses global SIRT3 effects on mitochondrial protein acetylation, respiration and bioenergetics
22309213 GCN5L1/BLOC1S1 regulates lysine acetylation in mitochondria.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19246570 Experimental investigation of five specific genes, AP3B1, ATP6AP1, BLOC1S1, LAMP2, and RAB11A, has confirmed novel roles for these proteins in the proper initiation of macroautophagy in amino acid-starved fibroblasts.
17618940 Together this study data provide evidence for the involvement of the BLOC-1 protein complex in SZ pathogenesis.
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AA Sequence

MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQEKRRREAITAATCLTEALVDHL      1 - 70
NVGVAQAYMNQRKLDHEVKTLQVQAAQFAKQTGQWIGMVENFNQALKEIGDVENWARSIELDMRTIATAL     71 - 140
EYVYKGQLQSAPS                                                             141 - 153
//

Text Mined References (33)

PMID Year Title
25898167 2015 BORC, a multisubunit complex that regulates lysosome positioning.
25870107 2015 Cleavage of BLOC1S1 mRNA by IRE1 Is Sequence Specific, Temporally Separate from XBP1 Splicing, and Dispensable for Cell Viability under Acute Endoplasmic Reticulum Stress.
25416956 2014 A proteome-scale map of the human interactome network.
25400169 2014 Mitochondrial protein acetylation mediates nutrient sensing of mitochondrial protein synthesis and mitonuclear protein balance.
23676666 2013 The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type II?.
23580065 2013 Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22554196 2012 The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.
22423091 2012 Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1.
22309213 2012 Identification of a molecular component of the mitochondrial acetyltransferase programme: a novel role for GCN5L1.
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