The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). (Q38346072)

2 September 2017

title

The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). (English)

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Gene Ontology release 2020-05-02

2 September 2017

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Gene Ontology ID

GO:0031084

Hermansky-Pudlak syndrome 3

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based on heuristic

inferred from title

Hermansky-Pudlak syndrome

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Rashi Gautam

1

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2 September 2017

Sreenivasulu Chintala

2

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2 September 2017

Wei Li

3

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2 September 2017

Qing Zhang

4

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2 September 2017

Jian Tan

5

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2 September 2017

Edward K Novak

6

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2 September 2017

Santiago M Di Pietro

7

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2 September 2017

Esteban C Dell'Angelica

8

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2 September 2017

Richard T Swank

9

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2 September 2017

language of work or name

English

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publication date

12 January 2004

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Journal of Biological Chemistry

2 September 2017

published in

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2 September 2017

volume

279

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2 September 2017

issue

13

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2 September 2017

page(s)

12935-12942

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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

2 September 2017

cites work

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https://api.crossref.org/works/10.1074/JBC.M311311200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast

21 January 2018

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https://api.crossref.org/works/10.1074/JBC.M311311200

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

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

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

Cocoa: a new mouse model for platelet storage pool deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

21 January 2018

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https://api.crossref.org/works/10.1074/JBC.M311311200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

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

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion.

21 January 2018

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https://api.crossref.org/works/10.1074/JBC.M311311200

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

21 January 2018

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https://api.crossref.org/works/10.1074/JBC.M311311200

21 January 2018

Adaptor-related proteins

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

The class C Vps complex functions at multiple stages of the vacuolar transport pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

Membrane dynamics and the biogenesis of lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

A fusion pore phenotype in mast cells of the ruby-eye mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M311311200

21 January 2018

Identifiers

DOI

10.1074/JBC.M311311200

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2 September 2017

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