BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4 (Q24302143)

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3 November 2019

title

BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4 (English)

1 reference

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3 November 2019

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Gene Ontology release 2020-05-02

Gene Ontology ID

GO:0031085

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

1 reference

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

GOA release 2020-03-11

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HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

GOA release 2020-03-11

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Hermansky-Pudlak syndrome

GOA release 2020-03-11

1 reference

3

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3 November 2019

author name string

José A Martina

series ordinal

1

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3 November 2019

Kengo Moriyama

series ordinal

2

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3 November 2019

language of work or name

English

0 references

publication date

19 May 2003

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Journal of Biological Chemistry

3 November 2019

published in

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3 November 2019

volume

278

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3 November 2019

issue

31

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3 November 2019

page(s)

29376-29384

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Lysosome-related organelles

3 November 2019

cites work

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Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

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Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

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Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

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Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk

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Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

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The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

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Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron

21 January 2018

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The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

21 January 2018

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The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene

21 January 2018

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Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles

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Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis

21 January 2018

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The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation

21 January 2018

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The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency

21 January 2018

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The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking

21 January 2018

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Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)

21 January 2018

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Effects of ammonia on processing and secretion of precursor and mature lysosomal enzyme from macrophages of normal and pale ear mice: evidence for two distinct pathways

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A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3.

21 January 2018

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AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

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A Ypt/Rab effector complex containing the Sec1 homolog Vps33p is required for homotypic vacuole fusion

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Class C Vps protein complex regulates vacuolar SNARE pairing and is required for vesicle docking/fusion

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BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules

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Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene

21 January 2018

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The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes

21 January 2018

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The mammalian AP-3 adaptor-like complex mediates the intracellular transport of lysosomal membrane glycoproteins.

21 January 2018

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Beta3A-adaptin, a subunit of the adaptor-like complex AP-3

21 January 2018

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AP-3: an adaptor-like protein complex with ubiquitous expression

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Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development

21 January 2018

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Characterization of the adaptor-related protein complex, AP-3

21 January 2018

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The AP-3 adaptor complex is essential for cargo-selective transport to the yeast vacuole.

21 January 2018

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Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles

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Identifiers

DOI

10.1074/JBC.M301294200

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12756248 AND SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017