BLOC1S6

Summary

Gene Symbol: BLOC1S6
Description: biogenesis of lysosomal organelles complex 1 subunit 6
Alias: BLOS6, HPS9, PALLID, PLDN, biogenesis of lysosome-related organelles complex 1 subunit 6, BLOC-1 subunit 6, biogenesis of lysosomal organelles complex-1, subunit 5, pallidin, biogenesis of lysosomal organelles complex-1, subunit 6, pallidin, pallid protein homolog, syntaxin 13 binding protein 1, syntaxin 13-interacting protein pallid
Species: human
Products:     BLOC1S6

Top Publications

  1. 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
    ..Furthermore, steady-state levels of the four proteins are significantly reduced in cells from pallid mice, which carry a mutation in Pallidin and display secondary loss of other BLOC-1 subunits...
  2. Ciciotte S, Gwynn B, Moriyama K, Huizing M, Gahl W, Bonifacino J, et al. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Blood. 2003;101:4402-7 pubmed
    ..biogenesis of lysosome-related organelles complex-1), consisting of the proteins encoded at 2 mouse HPS loci, pallid (pa) and muted (mu), and at least 3 other unidentified proteins...
  3. Li W, Zhang Q, Oiso N, Novak E, Gautam R, O Brien E, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003;35:84-9 pubmed
  4. Larimore J, Tornieri K, Ryder P, Gokhale A, Zlatic S, Craige B, et al. The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell. 2011;22:4854-67 pubmed publisher
    ..Our findings indicate a novel vesicle transport mechanism requiring BLOC-1 and AP-3 complexes for cargo sorting from neuronal cell bodies to neurites and nerve terminals...
  5. Setty S, Tenza D, Truschel S, Chou E, Sviderskaya E, Theos A, et al. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol Biol Cell. 2007;18:768-80 pubmed
  6. Moriyama K, Bonifacino J. Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. Traffic. 2002;3:666-77 pubmed
    ..One of these genes is mutated in the pallid mouse strain and encodes a novel protein named pallidin (L. Huang, Y. M. Kuo and J...
  7. Huang L, Kuo Y, Gitschier J. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Nat Genet. 1999;23:329-32 pubmed
    b>Pallid (pa) is 1 of 13 platelet storage pool deficiency (SPD) mouse mutants...
  8. Falcon Perez J, Starcevic M, Gautam R, Dell Angelica E. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem. 2002;277:28191-9 pubmed
    ..Two of these genes, which are defective in the pallid and muted mutant mouse strains, encode small, coiled-coil-forming proteins that display no homology to each other ..
  9. Arendt F. Reporting on Suicide Between 1819 and 1944. Crisis. 2018;39:344-352 pubmed publisher
    ..Furthermore, the press substantially overrepresented "vivid" firearm suicides compared with other more "pallid" methods such as drowning, indicative of sensational reporting...

More Information

Publications54

  1. Al Shahawy A, El Amrousy D, Abo Elezz A. Evaluation of Heart Rate Variability in Children With Breath-Holding Episodes. Pediatr Neurol. 2019;93:34-38 pubmed publisher
    ..the study; these individuals were further subdivided into children with cyanotic BHEs (n = 42) and children with pallid BHE (n = 18). Sixty healthy children of matched age and sex served as a control group...
  2. Tian G, Chen W, Chen Q, Wang M, Zhao G, Li Z, et al. Giant cell arteritis presenting as bilateral anterior ischemic optic neuropathy: a biopsy-proven case report in Chinese patient. BMC Ophthalmol. 2018;18:282 pubmed publisher
    ..Funduscopic examination revealed bilateral optic disc swollen with "chalky white" pallid appearance...
  3. Ito A, Fukaya M, Saegusa S, Kobayashi E, Sugawara T, Hara Y, et al. Pallidin is a novel interacting protein for cytohesin-2 and regulates the early endosomal pathway and dendritic formation in neurons. J Neurochem. 2018;147:153-177 pubmed publisher
    ..Cover Image for this issue: doi: 10.1111/jnc.14197. ..
  4. Brewton D, Gutierrez V, Razak K. Accurate sound localization behavior in a gleaning bat, Antrozous pallidus. Sci Rep. 2018;8:13457 pubmed publisher
    ..Here we studied azimuth sound localization behavior in the pallid bat, a gleaning bat in which spatial encoding has been studied extensively...
  5. Liu W, Tian M. Occurrence of the millipede genus Piccola Attems, 1953 in China (Diplopoda: Polydesmida: Paradoxosomatidae). Zootaxa. 2015;3904:403-8 pubmed publisher
    ..This species is considered to be a troglobite, showing a pallid tegument and extremely enlongated antennae and legs...
  6. Muller M, Paul T. [Syncope in children and adolescents]. Herzschrittmacherther Elektrophysiol. 2018;29:204-207 pubmed publisher
    Syncope is common in children and adolescents. Neurally mediated syncope including pallid and cyanotic breath holding spells, vagovasal syncope and neurocardiogenic syncope is based on a common pathomechanism and accounts for ..
  7. Espín S, Terraube J, Arroyo B, Camarero P, Mateo R, Limiñana R, et al. Blood concentrations of p,p'-DDE and PCBs in harriers breeding in Spain and Kazakhstan. Sci Total Environ. 2018;624:1287-1297 pubmed publisher
    ..The main goal was to evaluate exposure to p,p'-DDE and PCBs in two raptor species: Montagu's and pallid harriers (Circus pygargus and Circus macrourus), and to investigate if birds from different breeding areas and ..
  8. Dickersin K, Li T. Surgery for nonarteritic anterior ischemic optic neuropathy. Cochrane Database Syst Rev. 2015;:CD001538 pubmed publisher
    ..optic neuropathy (NAION) is characterized by sudden and painless loss of vision in the eye, accompanied by pallid swelling of the optic disc...
  9. Measor K, Yarrow S, Razak K. Topography of sound level representation in the FM sweep selective region of the pallid bat auditory cortex. Hear Res. 2018;367:137-148 pubmed publisher
    ..with sound level, here we mapped response rate and latency changes with sound level in the auditory cortex of the pallid bat. The pallid bat uses a 60-30?kHz downward frequency modulated (FM) sweep for echolocation...
  10. Jindahra P, Dejthevaporn C, Niparuck P, Waisayarat J, Cheecharoen P, Threetong T, et al. Atypical central retinal artery occlusion as the first presentation of POEMS syndrome: a case report. BMC Neurol. 2018;18:64 pubmed publisher
    ..opaque and edematous entire retina giving the appearance of central retinal artery occlusion (CRAO) along with pallid "chalky white" optic disc swelling...
  11. Dickersin K, Manheimer E, Li T. Surgery for nonarteritic anterior ischemic optic neuropathy. Cochrane Database Syst Rev. 2012;1:CD001538 pubmed publisher
    ..optic neuropathy (NAION) is characterized by sudden and painless loss of vision in the eye, accompanied by pallid swelling of the optic disc...
  12. Han M, Hu Z, Chen C, Chen Y, Gucek M, Li Z, et al. Dysbindin-associated proteome in the p2 synaptosome fraction of mouse brain. J Proteome Res. 2014;13:4567-80 pubmed publisher
    ..Our data suggest that dysbindin is functionally interrelated to the ubiquitin-proteasome system and offer a molecular repertoire for future study of dysbindin functional networks in brain. ..
  13. Williams J, Cain N. Case report of successful treatment of pallid breath-holding spells with glycopyrrolate. Pediatrics. 2015;135:e1308-11 pubmed publisher
    ..This is a retrospective study of patients treated with glycopyrrolate for pallid breath-holding spells...
  14. Pedroza M, Welschhans R, Agarwal S. Targeting of cadherin-11 decreases skin fibrosis in the tight skin-1 mouse model. PLoS ONE. 2017;12:e0187109 pubmed publisher
    ..Expression of CDH11 was increased in fibrotic skin from Tsk-1 mice compared to pallid controls...
  15. Rossberg W, Saternus R, Wagenpfeil S, Kleber M, März W, Reichrath S, et al. Human Pigmentation, Cutaneous Vitamin D Synthesis and Evolution: Variants of Genes (SNPs) Involved in Skin Pigmentation Are Associated with 25(OH)D Serum Concentration. Anticancer Res. 2016;36:1429-37 pubmed
    ..involved in different aspects of skin pigmentation, including melanosomal biogenesis (ATP7A, DTNBP1, BLOC1S5, PLDN, PMEL), melanosomal transport within melanocytes (RAB27A, MYO5A, MLPH); or various melanocyte signaling pathways (..
  16. Shi Q, Li C, Li K, Liu Q. Pallidin protein in neurodevelopment and its relation to the pathogenesis of schizophrenia. Mol Med Rep. 2017;15:665-672 pubmed publisher
    ..Moreover, since pallidin can also affect neuronal differentiation and its variants seem to be related to an increased risk of schizophrenia, it is possible that both pallidin and p38 play a role in the pathogenesis of the disease. ..
  17. Azab S, Siam A, Saleh S, Elshafei M, Elsaeed W, Arafa M, et al. Novel Findings in Breath-Holding Spells: A Cross-Sectional Study. Medicine (Baltimore). 2015;94:e1150 pubmed publisher
    ..Another aim of the study was to evaluate the differences in the pathophysiology between pallid and cyanotic types of BHS. This was a prospective study performed in Zagazig University Hospitals...
  18. van Liempd S, Cabrera D, Lee F, Gonzalez E, Dell Angelica E, Ghiani C, et al. BLOC-1 deficiency causes alterations in amino acid profile and in phospholipid and adenosine metabolism in the postnatal mouse hippocampus. Sci Rep. 2017;7:5231 pubmed publisher
    ..into the metabolic consequences caused by BLOC-1 deficiency in pallid mice, which carry a null mutation in the Bloc1s6 gene encoding an essential component of this complex...
  19. Popper A, Carlson T, Gross J, Hawkins A, Zeddies D, Powell L, et al. Effects of Seismic Air Guns on Pallid Sturgeon and Paddlefish. Adv Exp Med Biol. 2016;875:871-8 pubmed publisher
    b>Pallid sturgeon and paddlefish were placed at different distances from a seismic air gun array to determine the potential effects on mortality and nonauditory body tissues from the sound from a single shot...
  20. Gioria M, Pasini M, Berruti G. Dynamic of contribution of UBPy-sorted cargo to acrosome biogenesis: effects of its derailment in a mouse model of globozoospermia, the infertile Vps54 (L967Q) mutant. Cell Tissue Res. 2017;369:413-427 pubmed publisher
  21. Spiegel S, Chiu A, James A, Jentsch J, Karlsgodt K. Recognition deficits in mice carrying mutations of genes encoding BLOC-1 subunits pallidin or dysbindin. Genes Brain Behav. 2015;14:618-24 pubmed publisher
    ..Here, we investigated whether the apparent correspondence of pallid and dysbindin at the level of gene expression is also found at the level of behavior...
  22. Rogers P, Qualter P, Wood D. The impact of event vividness, event severity, and prior paranormal belief on attributions towards a depicted remarkable coincidence experience: Two studies examining the misattribution hypothesis. Br J Psychol. 2016;107:710-751 pubmed publisher
    ..The crash was described in either vivid or pallid terms with the final outcome being either severe (fatal) or non-severe (non-fatal)...
  23. Razak K, Yarrow S, Brewton D. Mechanisms of Sound Localization in Two Functionally Distinct Regions of the Auditory Cortex. J Neurosci. 2015;35:16105-15 pubmed publisher
    ..this issue by quantifying spatial receptive fields (SRFs) in two functionally distinct cortical regions in the pallid bat. The pallid bat uses echolocation for obstacle avoidance and listens to prey-generated noise to localize prey...
  24. Attard M, Medina I, Langmore N, Sherratt E. Egg shape mimicry in parasitic cuckoos. J Evol Biol. 2017;30:2079-2084 pubmed publisher
    ..nesting hosts, the brush cuckoo Cacomantis variolosus, which exploits both dome and cup nesting hosts, and the pallid cuckoo Cuculus pallidus, which exploits cup nesting hosts...
  25. Dillon C, Tummers B, Baran K, Green D. Developmental checkpoints guarded by regulated necrosis. Cell Mol Life Sci. 2016;73:2125-36 pubmed publisher
    ..seen in knockouts of caspase-8, FADD, or FLIP (cflar), components of the extrinsic apoptosis pathway, resulted in pallid embryos that did not exhibit the expected cellular expansions...
  26. Chantelau E. Conventional deep pressure algometry is not suitable for clinical assessment of nociception in painless diabetic neuropathy. Diabet Foot Ankle. 2016;7:31922 pubmed publisher
    ..Ten control subjects without neuropathy and 11 persons with painless diabetic neuropathy (PLDN, seven of whom with diabetic foot syndrome, i.e...
  27. Nagia L, Doyle J, Hackney J, Vaphiades M, Kline L, Levin M. Second chances. Surv Ophthalmol. 2015;60:596-9 pubmed publisher
    An 81-year-old woman presented with light perception vision in her left eye and had pallid swelling of the left optic disk. Temporal artery biopsy was normal...
  28. Razak K. Functional segregation of monaural and binaural selectivity in the pallid bat auditory cortex. Hear Res. 2016;337:35-45 pubmed publisher
    ..Here, this issue was addressed in the pallid bat because its auditory cortex contains two segregated regions of response selectivity that serve two different ..
  29. 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
    ..Together, our data reveal that Pallidin subserves a key role in promoting efficient synaptic vesicle recycling and re-formation through early endosomes during sustained activity. ..
  30. Kook S, Qi A, Wang P, Meng S, Gulleman P, Young L, et al. Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes. Am J Respir Cell Mol Biol. 2018;58:566-574 pubmed publisher
    ..We show that MLE-15/HPS9 and pallid AT2 cells (with a mutation in Bloc1s6) also express increased macrophage chemotactic protein-1, suggesting that mice and humans with BLOC-1 mutations ..
  31. Larimore J, Ryder P, Kim K, Ambrose L, Chapleau C, Calfa G, et al. MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons. PLoS ONE. 2013;8:e65069 pubmed publisher
  32. Azim A, Marfatia S, Korsgren C, Dotimas E, Cohen C, Chishti A. Human erythrocyte dematin and protein 4.2 (pallidin) are ATP binding proteins. Biochemistry. 1996;35:3001-6 pubmed
    ..2. Although the functional significance of ATP binding is not yet clear, our findings open new perspectives for the function of dematin and protein 4.2 in vivo. ..
  33. Schmitz G, Schambeck C. Molecular defects in the ABCA1 pathway affect platelet function. Pathophysiol Haemost Thromb. 2006;35:166-74 pubmed
    ..It is concluded that the presence of ABCA1 and ABCG1 in the AP-3 pathway will have major impact for membrane phospholipid processing and HDL metabolism and their relation to disorders of lysosome-related organelles...
  34. 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
    ..The two subcomplexes appear to constitute flexible units within the larger BLOC-1 chain, an arrangement conducive to simultaneous interactions with multiple BLOC-1 partners in the course of tubular endosome biogenesis and sorting. ..
  35. Hopp B, Arvidson R, Adams M, Razak K. Arizona bark scorpion venom resistance in the pallid bat, Antrozous pallidus. PLoS ONE. 2017;12:e0183215 pubmed publisher
    The pallid bat (Antrozous pallidus), a gleaning bat found in the western United States and Mexico, hunts a wide variety of ground-dwelling prey, including scorpions...
  36. Mao G, Goldfinger L, Fan D, Lambert M, Jalagadugula G, Freishtat R, et al. Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency. J Thromb Haemost. 2017;15:792-801 pubmed publisher
    ..The molecular mechanisms leading to the platelet DG deficiency are unknown. Platelet expression of PLDN (BLOC1S6, pallidin), involved in DG biogenesis, is regulated by RUNX1...
  37. Korsgren C, Cohen C. Associations of human erythrocyte band 4.2. Binding to ankyrin and to the cytoplasmic domain of band 3. J Biol Chem. 1988;263:10212-8 pubmed
    ..2 with band 4.1. Our results show that band 4.2 can form multiple associations with red cell membrane proteins and may therefore play an as yet unrecognized structural role on the membrane. ..
  38. Meyer M. Highly expressed genes in human high grade gliomas: immunohistochemical analysis of data from the human protein atlas. Neurol Int. 2014;6:5348 pubmed publisher
    ..These four human genes are: AGBL2 (ATP/GTP binding protein-like 2), BLOC1S6 (biogenesis of lysosomal organelles complex-1, subunit 6), MAP1A (microtubule-associated protein 1A) and ZSWIM5 (..
  39. Ghiani C, Starcevic M, Rodriguez Fernandez I, Nazarian R, Cheli V, Chan L, et al. The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. Mol Psychiatry. 2010;15:115, 204-15 pubmed publisher
  40. Tejman Yarden S, Ben Zeev B, Goldshmit Y, Sarquella Brugada G, Cicurel A, Katz U, et al. The Utilization of an Insertable Cardiac Monitor in a Child With Pallid Breath-Holding Spells. Pediatr Neurol. 2016;64:80-82 pubmed publisher
    Pacing can be a successful treatment for pallid breath-holding spells, primarily in individuals with severe bradycardia...
  41. Trune D, Lim D. A morphometric study of the pallid mutant mouse inner ear. Am J Otolaryngol. 1983;4:261-72 pubmed
    Mice homozygous for the mutant gene pallid (pa/pa) often lack otoconia in some or all of their maculae and are used to study the influences of gravity receptor hypostimulation on vestibular-related behaviors...
  42. Saito A, Kuratomi G, Ito C, Matsuoka H, Suzuki T, Ozeki Y, et al. An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. Psychiatr Genet. 2013;23:163-73 pubmed publisher
    ..As it is known that HPS is caused by a local mutation in one of the human genes, named HPS1 to HPS8 and PLDN (HPS9), encoding subunit proteins involved in endosomal trafficking pathways, here, we report the mutation causing ..
  43. Falcon Perez J, Dell Angelica E. The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis. Pigment Cell Res. 2002;15:82-6 pubmed
    This review focuses on the product of the pallidin (Pldn) gene, one of a number of genes that in mice are associated with pigmentation defects and platelet dense granule deficiency...
  44. Risinger M, Korsgren C, Cohen C. Role of N-myristylation in targeting of band 4.2 (pallidin) in nonerythroid cells. Exp Cell Res. 1996;229:421-31 pubmed
    ..2. These results suggest that myristylation plays a key role in the targeting of band 4.2 to specific intracellular locations and is likely to have a role in the function of this protein. ..