Bloc1s6
entrez
18457
canonical
uniprot
Q9R0C0
canonical
ensembl
ENSMUSG00000005804
resolver
ensp
ENSMUSP00000005954
resolver
genesymbol
Bloc1s6
resolver
genesymbol_syn
P2
resolver
genesymbol_syn
Pa
resolver
genesymbol_syn
Pldn
resolver
uniprot
A2ATW6
resolver
uniprot
Q3TUT4
resolver
uniprot
Q91VG4
resolver
uniprot_entry
BL1S6_MOUSE
resolver
uniprot_sec
A2ATW6
resolver
uniprot_sec
Q3TUT4
resolver
uniprot_sec
Q91VG4
resolver
amino_acid_sequence
MSVPEPPPPDGVLTGPSDSLEAGEPTPGLSDTSPDEGLIEDFPVDDRAVEHLVGGLLSHYLPDLQRSKRALQELTQNQVVLLDTLEQEISKFKECHSMLDINALFTEAKHYHAKLVTIRKEMLLLHEKTSKLKKRALKLQQKRQREELEREQQREKEFEREKQLTAKPAKRT
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Pldn are the cause of the pallid (pa) phenotype that is characterized by an altered formation or function of intracellular storage granules in melanocytes, platelets, and lysosomes in kidney. Pallid mice have a prolonged bleeding time owing to the inability of immature platelet dense granules to accumulate normal amounts of ATP, ADP, and serotonin. Pa animals also suffer from pigment dilution, kidney lysosomal enzyme elevation and serum alpha1-antitrypsin activity deficiency. Finally, pallid mice exhibit defects in otolith formation that lead to balance abnormalities. {ECO:0000269|PubMed:10610180}.
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:16760431, ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:19546860, ECO:0000269|PubMed:21998198}.
uniprot
proteins
mass_dalton
19682
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000250}.
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
12576321
uniprot
proteins
pubmed
12923531
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
16760431
uniprot
proteins
pubmed
17182842
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
19546860
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
21998198
uniprot
proteins
sequence_length
172
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9UL45}. Membrane {ECO:0000250|UniProtKB:Q9UL45}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9UL45}. Note=It can exist as a soluble protein as well as a peripheral membrane protein. {ECO:0000250|UniProtKB:Q9UL45}.
uniprot
proteins