Bloc1s4
entrez
117197
canonical
uniprot
Q8VED2
canonical
ensembl
ENSMUSG00000060708
resolver
ensp
ENSMUSP00000071840
resolver
enst
ENSMUST00000071949
resolver
genesymbol
Bloc1s4
resolver
genesymbol_syn
Cno
resolver
uniprot_entry
BL1S4_MOUSE
resolver
amino_acid_sequence
MEEGPAVGTLSREVSTEEAEPLGAAWSGDSGHVSQSHSSASGPWDDDGPEDAPGRDLPLLRRAASGYASSLLPSAGPRPEVEALDASLEELLAKVDEFVGMLDMIRGDSSHVVGEGVPRIHAKAAEMRRIYGRIDKLEAFVRMIGSSVARMEEQVAKAEAELGTFPRAFRRLLHTISVPALFRSAPSGPQRAAYEPPVLFRTEDHFPGCGDRPQL
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Cno are the cause of the cappuccino (Cno) mutant, which is characterized by a severe oculocutaneous albinism due to abnormal melanosome formation, and prolonged bleeding due to deficiency of platelet dense body contents. {ECO:0000269|PubMed:11110696}.
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:16760431, ECO:0000269|PubMed:19546860, ECO:0000269|PubMed:21998198}.
uniprot
proteins
mass_dalton
23112
uniprot
proteins
protein_family
BLOC1S4 family
uniprot
proteins
pubmed
11110696
uniprot
proteins
pubmed
12576321
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16760431
uniprot
proteins
pubmed
19546860
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
21998198
uniprot
proteins
sequence_length
215
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12576321}.
uniprot
proteins