BLOC1S6
entrez
26258
canonical
uniprot
Q9UL45
canonical
ensembl
ENSG00000104164
resolver
ensp
ENSP00000220531
resolver
ensp
ENSP00000456851
resolver
enst
ENST00000565323
resolver
genesymbol
BLOC1S6
resolver
genesymbol_syn
PA
resolver
genesymbol_syn
PLDN
resolver
hgnc
HGNC:8549
resolver
uniprot
B3KY40
resolver
uniprot
H3BST1
resolver
uniprot_entry
B3KY40_HUMAN
resolver
uniprot_entry
BL1S6_HUMAN
resolver
uniprot_entry
H3BST1_HUMAN
resolver
amino_acid_sequence
MSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSKQALQELTQNQVVLLDTLEQEISKFKECHSMLDINALFAEAKHYHAKLVNIRKEMLMLHEKTSKLKKRALKLQQKRQKEELEREQQREKEFEREKQLTARPAKRM
uniprot
proteins
disease_involvement
DISEASE: Hermansky-Pudlak syndrome 9 (HPS9) [MIM:614171]: 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:22461475}. 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. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. {ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:21998198}.
uniprot
proteins
mass_dalton
19744
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000269|PubMed:12191018}.
uniprot
proteins
protein_family
BLOC1S6 family
uniprot
proteins
pubmed
10610180
uniprot
proteins
pubmed
11936273
uniprot
proteins
pubmed
12019270
uniprot
proteins
pubmed
12191018
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17182842
uniprot
proteins
pubmed
19546860
uniprot
proteins
pubmed
21665000
uniprot
proteins
pubmed
21998198
uniprot
proteins
pubmed
22203680
uniprot
proteins
pubmed
22461475
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28475864
uniprot
proteins
sequence_length
172
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12019270, ECO:0000269|PubMed:12191018}. Membrane {ECO:0000269|PubMed:12019270, ECO:0000269|PubMed:12191018}; Peripheral membrane protein {ECO:0000269|PubMed:12019270}. Note=It can exist as a soluble protein as well as a peripheral membrane protein (PubMed:12019270). {ECO:0000269|PubMed:12019270}.
uniprot
proteins