Bloc1s3
entrez
232946
canonical
uniprot
Q5U5M8
canonical
ensembl
ENSMUSG00000057667
resolver
ensp
ENSMUSP00000076624
resolver
ensp
ENSMUSP00000164455
resolver
ensp
ENSMUSP00000164456
resolver
enst
ENSMUST00000077408
resolver
genesymbol
Bloc1s3
resolver
genesymbol_syn
Blos3
resolver
genesymbol_syn
Rp
resolver
uniprot
Q8C6R4
resolver
uniprot
Q8R0Z3
resolver
uniprot_entry
BL1S3_MOUSE
resolver
uniprot_sec
Q8C6R4
resolver
uniprot_sec
Q8R0Z3
resolver
amino_acid_sequence
MESSQGRRRRPGTVVPGEAAETDSELSASSSEEELYLGPSGPTRGRPTGLRVAGEAAETDSEPEPEPTVVPVDLPPLVVQRDPAETWGTEETPAMAPARSLLQLRLAESQTRLDHDVAAAVSGVYRRAGRDVAALAGRLAAAQATGLAAAHSVRLARGDLCALAERLDIVAGCRLLPDIRGVPGMEPEQDPGPRA
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Bloc1s3 are the cause of the reduced pigmentation (rp) mutation phenotype, a mouse model for human Hermansky-Pudlak syndrome (HPS). Rp mice are characterized by abnormal melanosomes and display altered expression levels of the proteins of the BLOC-1 complex. {ECO:0000269|PubMed:15265785}.
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
20398
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000269|PubMed:15265785}.
uniprot
proteins
protein_family
BLOC1S3 family
uniprot
proteins
pubmed
15102850
uniprot
proteins
pubmed
15265785
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
16760431
uniprot
proteins
pubmed
17182842
uniprot
proteins
pubmed
19546860
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
21998198
uniprot
proteins
sequence_length
195
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15265785}.
uniprot
proteins