BLOC1S2

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

Description

Biogenesis of lysosomal organelles complex 1 subunit 2

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

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

Chromosome

10 (100273280 - 100286680)

Ensembl ID

ENSG00000196072  (ver. 103.38)

Orthologs

Mouse Bloc1s2: ENSMUSG00000057506

UniProt

Q6QNY1

neXtProt

NX_Q6QNY1

Human splice variants
Mouse splice variants

Protein structure