BLOC1S3
entrez
388552
canonical
uniprot
Q6QNY0
canonical
ensembl
ENSG00000189114
resolver
ensp
ENSP00000393840
resolver
ensp
ENSP00000468281
resolver
ensp
ENSP00000554308
resolver
enst
ENST00000433642
resolver
enst
ENST00000587722
resolver
enst
ENST00000884249
resolver
genesymbol
BLOC1S3
resolver
genesymbol_syn
BLOS3
resolver
hgnc
HGNC:20914
resolver
uniprot
B2RXB8
resolver
uniprot_entry
BL1S3_HUMAN
resolver
uniprot_sec
B2RXB8
resolver
amino_acid_sequence
MASQGRRRRPLRRPETVVPGEATETDSERSASSSEEEELYLGPSGPTRGRPTGLRVAGEAAETDSEPEPEPEPTAAPRDLPPLVVQRESAEEAWGTEEAPAPAPARSLLQLRLAESQARLDHDVAAAVSGVYRRAGRDVAALASRLAAAQAAGLAAAHSVRLARGDLCALAERLDIVAGCRLLPDIRGVPGTEPEKDPGPRA
uniprot
proteins
disease_involvement
DISEASE: Hermansky-Pudlak syndrome 8 (HPS8) [MIM:614077]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269|PubMed:16385460}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. {ECO:0000269|PubMed:16385460, ECO:0000269|PubMed:17182842}.
uniprot
proteins
mass_dalton
21256
uniprot
proteins
protein_family
BLOC1S3 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15102850
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16385460
uniprot
proteins
pubmed
17182842
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
22203680
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
202
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
uniprot
proteins