BLOC1S1 Products

Description

BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM]

Bioinformatics

Entrez	2647 Human
Uniprot	NP_001478 Human P78537 Human
Product By Gene ID	2647
Alternate Names	FLJ97089 Protein RT14 FLJ39337 MTA1-interacting coactivator GCN5 general control of amino-acid synthesis 5-like 1 (yeast) GCN5 general control of amino-acid synthesis 5-like 1 GCN5-like protein 1 GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1 BLOC-1 subunit 1 BLOC subunit 1 RT14 GCN5L1biogenesis of lysosome-related organelles complex 1 subunit 1 BLOS1MICoA MGC87455 biogenesis of lysosomal organelles complex-1, subunit 1

Diseases related to BLOC1S1

Discover more about diseases related to BLOC1S1.

Hermanski-pudlak Syndrome
Schizophrenia
Hereditary Diseases
Albinism
Bleeding Tendency
Albinism, Oculocutaneous
Hemorrhage
Nervousness
Platelet Storage Pool Deficiency
Neuroblastoma
Melanoma
Hypopigmentation Disorder
Dystrophy
Lysosomal Storage Diseases
Inflammation
Muscular Dystrophy

Pathways for BLOC1S1

View related products by pathway and learn more about each of the pathways below.

Pathogenesis
Pigmentation
Localization
Transport
Membrane Fusion
Endosomal Transport
Eye Pigmentation
Electron Transport
Electron Transport Chain
Synaptic Transmission
Macroautophagy
Receptor Internalization
Protein Acetylation
Cell Differentiation
Histone Acetylation
Exocytosis

PTMs for BLOC1S1

Learn more about PTMs related to BLOC1S1.

Acetylation
Phosphorylation
Deacetylation
Ribosylation

Bioinformatics Tool for BLOC1S1

Discover related pathways, diseases and genes to BLOC1S1. Need help? Read the Bioinformatics Tool Guide for instructions on using this tool.