BLOC1S4

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]

Description

Biogenesis of lysosomal organelles complex 1 subunit 4

Tissue specificity

Low tissue specificity

Subcell location

Vesicles, Cytosol

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

4 (6716174 - 6717664)

Ensembl ID

ENSG00000186222  (ver. 103.38)

Orthologs

Mouse Bloc1s4: ENSMUSG00000060708

UniProt

Q9NUP1

neXtProt

NX_Q9NUP1

Human splice variants
Mouse splice variants

Protein structure