BLOC1S5

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]

Description

Biogenesis of lysosomal organelles complex 1 subunit 5

Tissue specificity

Low tissue specificity

Subcell location

Vesicles

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

6 (8013567 - 8064396)

Ensembl ID

ENSG00000188428  (ver. 103.38)

Orthologs

-

UniProt

Q8TDH9

neXtProt

NX_Q8TDH9

Human splice variants

Protein structure