Bloc1s5
entrez
17828
canonical
uniprot
Q8R015
canonical
ensembl
ENSMUSG00000038982
resolver
ensp
ENSMUSP00000036614
resolver
ensp
ENSMUSP00000182236
resolver
genesymbol
Bloc1s5
resolver
genesymbol_syn
Mu
resolver
genesymbol_syn
Muted
resolver
uniprot
Q3TCP2
resolver
uniprot
Q8CAC9
resolver
uniprot_entry
BL1S5_MOUSE
resolver
uniprot_sec
Q3TCP2
resolver
uniprot_sec
Q8CAC9
resolver
amino_acid_sequence
MSGGGTETPVACDAAQGGKKRDSLGTPGAAHLIIKDLGEIHSRLLDHRPVTQGEIRYFVKEFEEKRGLRELRVLKNLENTIQETNECLLPKCRETMECGLGETLQRLQAANDSICRLQQREQERKKVINDYLTASEKRRLVQWEEFVSGQPQRRAEVDEEHRRAVERLREQYAAMEKDLAKFSTF
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Muted are the cause of the Muted (mu) mutant, which is characterized by light eyes at birth, hypopigmentation of the coat, platelet storage pool deficiency and lysosomal hyposecretion. {ECO:0000269|PubMed:11912185}.
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:11912185, ECO:0000269|PubMed:12019270, ECO:0000269|PubMed:16760431, ECO:0000269|PubMed:19546860, ECO:0000269|PubMed:21998198}.
uniprot
proteins
mass_dalton
21283
uniprot
proteins
protein_family
BLOC1S5 family
uniprot
proteins
pubmed
11912185
uniprot
proteins
pubmed
12019270
uniprot
proteins
pubmed
12576321
uniprot
proteins
pubmed
12923531
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
16760431
uniprot
proteins
pubmed
19546860
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
21998198
uniprot
proteins
sequence_length
185
uniprot
proteins