Gene Symbol: BLOC1S1
Description: biogenesis of lysosomal organelles complex 1 subunit 1
Alias: BLOS1, BORCS1, GCN5L1, MICoA, RT14, biogenesis of lysosome-related organelles complex 1 subunit 1, BLOC-1 subunit 1, GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1, GCN5 general control of amino-acid synthesis 5-like 1, GCN5-like protein 1, MTA1-interacting coactivator
Species: human
Products:     BLOC1S1

Top Publications

  1. Gokhale A, Larimore J, Werner E, So L, Moreno De Luca A, Lese Martin C, et al. Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1. J Neurosci. 2012;32:3697-711 pubmed publisher
    ..Thus, our quantitative proteomic studies expand the functional repertoire of the BLOC-1 complex and provide insight into putative molecular pathways of schizophrenia susceptibility. ..
  2. Starcevic M, Dell Angelica E. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem. 2004;279:28393-401 pubmed
    ..The other three are previously uncharacterized proteins, which we named BLOC subunits 1, 2, and 3 (BLOS1, -2, and -3)...
  3. Thapa D, Xie B, Zhang M, Stoner M, Manning J, Huckestein B, et al. Adropin treatment restores cardiac glucose oxidation in pre-diabetic obese mice. J Mol Cell Cardiol. 2019;129:174-178 pubmed publisher
    ..Instead, we show that adropin modulated the expression of the mitochondrial acetyltransferase enzyme GCN5L1, which altered the acetylation status and activity of fuel metabolism enzymes to favor glucose utilization...
  4. Bae D, Moore K, Mella J, Hayashi S, Hollien J. Degradation of Blos1 mRNA by IRE1 repositions lysosomes and protects cells from stress. J Cell Biol. 2019;218:1118-1127 pubmed publisher
    ..Here, we show that degradation of the mRNA encoding biogenesis of lysosome-related organelles 1 subunit 1 (Blos1) leads to the repositioning of late endosomes (LEs)/lysosomes to the microtubule-organizing center in response ..
  5. Manning J, Thapa D, Zhang M, Stoner M, Traba J, McTiernan C, et al. Cardiac-specific deletion of GCN5L1 restricts recovery from ischemia-reperfusion injury. J Mol Cell Cardiol. 2019;129:69-78 pubmed publisher
    b>GCN5L1 regulates mitochondrial protein acetylation, cellular bioenergetics, reactive oxygen species (ROS) generation, and organelle positioning in a number of diverse cell types...
  6. Dikalov S, Dikalova A. Crosstalk between mitochondrial hyperacetylation and oxidative stress in vascular dysfunction and hypertension. Antioxid Redox Signal. 2019;: pubmed publisher
    ..stress contribute to mitochondrial dysfunction; however, regulation of mitochondrial acetylation, the role of GCN5L1 acetyltransferase, Sirt3 deacetylase and acetylation of specific proteins require further investigations...
  7. Thapa D, Wu K, Stoner M, Xie B, Zhang M, Manning J, et al. The protein acetylase GCN5L1 modulates hepatic fatty acid oxidation activity via acetylation of the mitochondrial β-oxidation enzyme HADHA. J Biol Chem. 2018;293:17676-17684 pubmed publisher
    ..Here, we investigated whether the protein acetylase GCN5 general control of amino acid synthesis 5-like 1 (GCN5L1), previously shown to oppose SIRT3 activity, is involved in the regulation of hepatic fatty acid oxidation...
  8. Wu K, Wang L, Chen Y, Pirooznia M, Singh K, Wälde S, et al. GCN5L1 interacts with αTAT1 and RanBP2 to regulate hepatic α-tubulin acetylation and lysosome trafficking. J Cell Sci. 2018;131: pubmed publisher
    Although GCN5L1 (also known as BLOC1S1) facilitates mitochondrial protein acetylation and controls endosomal-lysosomal trafficking, the mechanisms underpinning these disparate effects are unclear...
  9. Alrob O, Sankaralingam S, Ma C, Wagg C, Fillmore N, Jaswal J, et al. Obesity-induced lysine acetylation increases cardiac fatty acid oxidation and impairs insulin signalling. Cardiovasc Res. 2014;103:485-97 pubmed publisher
    ..while expression of the mitochondrial acetylase, general control of amino acid synthesis 5 (GCN5)-like 1 (GCN5L1), did not change...

More Information


  1. Hayes M, Bryon K, Satkurunathan J, Levine T. Yeast homologues of three BLOC-1 subunits highlight KxDL proteins as conserved interactors of BLOC-1. Traffic. 2011;12:260-8 pubmed publisher
    ..Here we use more sensitive searches to identify distant homologues for three BLOC-1 subunits in S. cerevisiae: Blos1, snapin and cappuccino (cno)...
  2. Zhang A, He X, Zhang L, Yang L, Woodman P, Li W. Biogenesis of lysosome-related organelles complex-1 subunit 1 (BLOS1) interacts with sorting nexin 2 and the endosomal sorting complex required for transport-I (ESCRT-I) component TSG101 to mediate the sorting of epidermal growth factor receptor into. J Biol Chem. 2014;289:29180-94 pubmed publisher
    ..b>BLOS1, one subunit of BLOC-1, is implicated in lysosomal trafficking of membrane proteins...
  3. Mullin A, Sadanandappa M, Ma W, Dickman D, Vijayraghavan K, Ramaswami M, et al. Gene dosage in the dysbindin schizophrenia susceptibility network differentially affect synaptic function and plasticity. J Neurosci. 2015;35:325-38 pubmed publisher
    ..In humans, the Blos1 ortholog Bloc1s1 encodes a polypeptide that assembles, with dysbindin, into the octameric BLOC-1 complex...
  4. Chen X, Ma W, Zhang S, Paluch J, Guo W, Dickman D. The BLOC-1 Subunit Pallidin Facilitates Activity-Dependent Synaptic Vesicle Recycling. Eneuro. 2017;4: pubmed publisher
    ..structures, and that the stability of Pallidin protein is highly dependent on the BLOC-1 components Dysbindin and Blos1. We demonstrate that the rapidly recycling vesicle pool is not sustained during high synaptic activity in pallidin ..
  5. Donato V, Bonora M, Simoneschi D, Sartini D, Kudo Y, Saraf A, et al. The TDH-GCN5L1-Fbxo15-KBP axis limits mitochondrial biogenesis in mouse embryonic stem cells. Nat Cell Biol. 2017;19:341-351 pubmed publisher
    ..We found that TDH, responsible for mitochondrial production of acetyl-CoA in mESCs, and the acetyltransferase GCN5L1 cooperate to acetylate Lys501 in KBP, allowing its recognition by and degradation via Fbxo15, an F-box protein ..
  6. Scott I, Wang L, Wu K, Thapa D, Sack M. GCN5L1/BLOS1 Links Acetylation, Organelle Remodeling, and Metabolism. Trends Cell Biol. 2018;28:346-355 pubmed publisher
    ..resulting in an alternative designation as biogenesis of lysosome-related organelle complex 1 subunit 1 (BLOS1 or BLOC1S1)...
  7. Chen T, Song G, Yang H, Mao L, Cui Z, Huang K. Development of the Swimbladder Surfactant System and Biogenesis of Lysosome-Related Organelles Is Regulated by BLOS1 in Zebrafish. Genetics. 2018;208:1131-1146 pubmed publisher
    ..a BLOC-1 deficiency, in which melanin and silver pigment formation was attenuated as a result of mutation of bloc1s1, bloc1s2, and dtnbp1a, suggesting that they function in the same complex...
  8. Rodriguez Fernandez I, Dell Angelica E. Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster. PLoS ONE. 2015;10:e0143026 pubmed publisher
    ..defects of mutants in AP-3 subunits as well as in two other genes previously implicated in LRO biogenesis, namely Blos1 and lightoid, and even increased the eye pigment content of wild-type flies...
  9. Thapa D, Zhang M, Manning J, Guimaraes D, Stoner M, O Doherty R, et al. Acetylation of mitochondrial proteins by GCN5L1 promotes enhanced fatty acid oxidation in the heart. Am J Physiol Heart Circ Physiol. 2017;313:H265-H274 pubmed publisher
    ..this change correlated with an increase in the abundance of the mitochondrial acetyltransferase-related protein GCN5L1. We showed that the acetylation status of several mitochondrial fatty acid oxidation enzymes (long-chain acyl-CoA ..
  10. Fukushima A, Alrob O, Zhang L, Wagg C, Altamimi T, Rawat S, et al. Acetylation and succinylation contribute to maturational alterations in energy metabolism in the newborn heart. Am J Physiol Heart Circ Physiol. 2016;311:H347-63 pubmed publisher
    ..increased expression of the mitochondrial acetyltransferase, general control of amino acid synthesis 5 like 1 (GCN5L1), since silencing GCN5L1 mRNA in H9c2 cells significantly reduced acetylation and activity of LCAD and ?-HAD...
  11. Kurooka H, Honjo T. Functional interaction between the mouse notch1 intracellular region and histone acetyltransferases PCAF and GCN5. J Biol Chem. 2000;275:17211-20 pubmed
    ..These results suggest that HATs including PCAF and GCN5 play an important role in the RBP-J-mediated transactivation by RAMIC. ..
  12. Inoue M, Isomura M, Ikegawa S, Fujiwara T, Shin S, Moriya H, et al. Isolation and characterization of a human cDNA clone (GCN5L1) homologous to GCN5, a yeast transcription activator. Cytogenet Cell Genet. 1996;73:134-6 pubmed
    ..This cDNA, termed GCN5L1 (GCN5-like 1), consists of 545 nucleotides including an open reading frame of 378 bp that encodes a 126-amino-acid ..
  13. Bright M, Itzhak D, Wardell C, Morgan G, Davies F. Cleavage of BLOC1S1 mRNA by IRE1 Is Sequence Specific, Temporally Separate from XBP1 Splicing, and Dispensable for Cell Viability under Acute Endoplasmic Reticulum Stress. Mol Cell Biol. 2015;35:2186-202 pubmed publisher
    ..Using a systematic bioinformatics approach with quantitative-PCR (qPCR) validation, we show that only BLOC1S1 is consistently a RIDD target in all systems tested...
  14. Watanabe T, Fujiwara T, Shinomiya H, Kuga Y, Hishigaki H, Nakamura Y, et al. Molecular cloning of a novel human cDNA, RT14, containing a putative ORF highly conserved between human, fruit fly, and nematode. DNA Res. 1995;2:235-7 pubmed
    From a human fetal-brain cDNA library we isolated a novel gene, designated RT14, whose cDNA contained an open reading frame of 375 nucleotides encoding 125 amino acids...
  15. Mishra S, Mazumdar A, Vadlamudi R, Li F, Wang R, Yu W, et al. MICoA, a novel metastasis-associated protein 1 (MTA1) interacting protein coactivator, regulates estrogen receptor-alpha transactivation functions. J Biol Chem. 2003;278:19209-19 pubmed
    ..proteins, we identified a previously uncharacterized molecule, which we named as MTA1-interacting coactivator (MICoA)...
  16. Ryder P, Vistein R, Gokhale A, Seaman M, Puthenveedu M, Faundez V. The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIα. Mol Biol Cell. 2013;24:2269-84 pubmed publisher
    ..We conclude that the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo PI4KIIα interact with regulators of the actin cytoskeleton. ..
  17. Pu J, Schindler C, Jia R, Jarnik M, Backlund P, Bonifacino J. BORC, a multisubunit complex that regulates lysosome positioning. Dev Cell. 2015;33:176-88 pubmed publisher
    ..In turn, this causes reduced cell spreading and migration, highlighting the importance of BORC-dependent centrifugal transport for non-degradative functions of lysosomes. ..
  18. Morris D, Murphy K, Kenny N, PURCELL S, McGhee K, Schwaiger S, et al. Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. Biol Psychiatry. 2008;63:24-31 pubmed
    ..A systematic investigation of the other seven BLOC-1 genes (MUTED, PLDN, CNO, SNAPAP, BLOC1S1, BLOC1S2, and BLOC1S3) for evidence of association with SZ was undertaken in a sample of 373 SZ cases and 812 ..
  19. Scott I, Webster B, Li J, Sack M. Identification of a molecular component of the mitochondrial acetyltransferase programme: a novel role for GCN5L1. Biochem J. 2012;443:655-61 pubmed publisher
    ..We show that GCN5L1 [GCN5 (general control of amino acid synthesis 5)-like 1; also known as Bloc1s1] counters the acetylation and respiratory effects of SIRT3...
  20. Huttenhower C, Haley E, Hibbs M, Dumeaux V, Barrett D, Coller H, et al. Exploring the human genome with functional maps. Genome Res. 2009;19:1093-106 pubmed publisher
    ..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 ..
  21. Ogryzko V, Kotani T, Zhang X, Schiltz R, Howard T, Yang X, et al. Histone-like TAFs within the PCAF histone acetylase complex. Cell. 1998;94:35-44 pubmed
    ..Moreover, the PCAF complex has a novel subunit with WD40 repeats having a similarity to hTAF(II)100. ..
  22. Lee H, Nemecek D, Schindler C, Smith W, Ghirlando R, Steven A, et al. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem. 2012;287:5882-90 pubmed publisher
    ..complex that contains one copy each of the eight subunits pallidin, Cappuccino, dysbindin, Snapin, Muted, BLOS1, BLOS2, and BLOS3...
  23. Yang Q, He X, Yang L, Zhou Z, Cullinane A, Wei A, et al. The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic. 2012;13:1160-9 pubmed publisher
    ..the naïve Bayesian analysis, we found that a human uncharacterized 20 kDa coiled-coil KxDL protein, KXD1, is a BLOS1-interacting protein. In vitro binding assays confirmed the interaction between BLOS1 and KXD1...
  24. McMahon S, Wood M, Cole M. The essential cofactor TRRAP recruits the histone acetyltransferase hGCN5 to c-Myc. Mol Cell Biol. 2000;20:556-62 pubmed
  25. Niwa S, Tao L, Lu S, Liew G, Feng W, Nachury M, et al. BORC Regulates the Axonal Transport of Synaptic Vesicle Precursors by Activating ARL-8. Curr Biol. 2017;27:2569-2578.e4 pubmed publisher
    ..We found mutations in six BORC subunits-blos-1/BLOS1, blos-2/BLOS2, snpn-1/Snapin, sam-4/Myrlysin, blos-7/Lyspersin, and blos-9/MEF2BNB-cause defects in axonal ..
  26. Wang L, Scott I, Zhu L, Wu K, Han K, Chen Y, et al. GCN5L1 modulates cross-talk between mitochondria and cell signaling to regulate FoxO1 stability and gluconeogenesis. Nat Commun. 2017;8:523 pubmed publisher
    The mitochondrial enriched GCN5-like 1 (GCN5L1) protein has been shown to modulate mitochondrial protein acetylation, mitochondrial content and mitochondrial retrograde signaling...