BLOC1S5
entrez
63915
canonical
uniprot
Q8TDH9
canonical
ensembl
ENSG00000188428
resolver
ensp
ENSP00000380598
resolver
ensp
ENSP00000445215
resolver
enst
ENST00000543936
resolver
genesymbol
BLOC1S5
resolver
genesymbol_syn
MUTED
resolver
hgnc
HGNC:18561
resolver
uniprot
A0A0A0MTN6
resolver
uniprot
B4DVM2
resolver
uniprot
Q0VDJ6
resolver
uniprot
Q0VDJ7
resolver
uniprot
Q5THS1
resolver
uniprot
Q68D56
resolver
uniprot
Q8N5F9
resolver
uniprot
Q9NU16
resolver
uniprot_entry
A0A0A0MTN6_HUMAN
resolver
uniprot_entry
BL1S5_HUMAN
resolver
uniprot_sec
B4DVM2
resolver
uniprot_sec
Q0VDJ6
resolver
uniprot_sec
Q0VDJ7
resolver
uniprot_sec
Q5THS1
resolver
uniprot_sec
Q68D56
resolver
uniprot_sec
Q8N5F9
resolver
uniprot_sec
Q9NU16
resolver
amino_acid_sequence
MSGGGTETPVGCEAAPGGGSKKRDSLGTAGSAHLIIKDLGEIHSRLLDHRPVIQGETRYFVKEFEEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHMLQWDNFMKEQPNKRAEVDEEHRKAMERLKEQYAEMEKDLAKFSTF
uniprot
proteins
disease_involvement
DISEASE: Hermansky-Pudlak syndrome 11 (HPS11) [MIM:619172]: 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:32565547}. 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 (PubMed:32565547). 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:17182842, ECO:0000269|PubMed:32565547}.
uniprot
proteins
mass_dalton
21609
uniprot
proteins
protein_family
BLOC1S5 family
uniprot
proteins
pubmed
11912185
uniprot
proteins
pubmed
12019270
uniprot
proteins
pubmed
12191018
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17182842
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22203680
uniprot
proteins
pubmed
32565547
uniprot
proteins
sequence_length
187
uniprot
proteins