Hps6
entrez
20170
canonical
uniprot
Q8BLY7
canonical
ensembl
ENSMUSG00000074811
resolver
ensp
ENSMUSP00000096991
resolver
enst
ENSMUST00000099393
resolver
genesymbol
Hps6
resolver
genesymbol_syn
Ru
resolver
uniprot
Q3TWQ8
resolver
uniprot
Q8BML5
resolver
uniprot
Q8CIA3
resolver
uniprot_entry
HPS6_MOUSE
resolver
uniprot_sec
Q3TWQ8
resolver
uniprot_sec
Q8BML5
resolver
uniprot_sec
Q8CIA3
resolver
amino_acid_sequence
MKRAGTLRLLSDLSNFTGAARLRELLAGDPAVLVRCSPDGRHLLLLRPPGSPAPQLLVAVRGPGLPLERAWPEGDPSPLDVFFVPWLARPALILVWESGLAEVWGVGMEPGWKLLQSTELCPDGGARVMAVAATRGRLVWCEERQPGVKDQPEQLSTAFSHRVCFKTLETSGEAGTKLGCTHILLHHCPLFGLIASRKDLFLVPTTNTWSGVAHLLLIWSPSKGKVIVAAPSLGLSHSKSLNPKQGDTWDFRTLLRGLPGFLSPREPLAVHTWAPSSQGLLLLDLKGKVSLVQCHGGTRTVGILQEAPVSLKGSAALGTFHGTLACVLGSTLELLDMSSGRLLEKKVLSTDRVHLLEPPAPGMKNEEELETRGALRLLSALGLFCVCWETPQGLELPSDKDLVFEEACGYYQRRSLRGTQLTPEELRHNSMFRAPQALASILQGHLPPSTLLTTLRAELRDYRSIEQLKAQLVAGDDEEAGWTELAEHEVARLLRTQLTGDQLAQFNTIFQALPTAAWGATLQALQLQPDRSGRLRSQAPPDVWKKVLRAPTAGKEHPNGILPPFELLCQCLGQLEPQWLPPFVKLAQQQGGPGWGAEGPSLPLYRRALAVLGEEGKRPEALELELLLGSGRPKAVLQAVRQLIKKEEWERALEAGLALDASSPLLRSEIFKLLLAEFAQHRRLDAHLPLLCRLCPPEVAPHELLLLLRTHLPDDEGTTPFPEPGAEPPLTVGLVRALLEQTGAQGRPSGPVQSTYEDILWDPGTPPPTPPRGPTASLPASDHPGQEAWVPPGQGLGAADVGVHL
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Hps6 are the cause of Hermansky-Pudlak-like syndrome, a syndrome characterized by hypopigmented eyes and coat, melanosomes greatly reduced in number and morphologically bizarre, kidney proximal tubules secreting lysosomal enzymes into urine at greatly reduced rates, platelet dense granules deficient in critical components, such as serotonin and adenine nucleotides, leading to functionally abnormal platelets and prolonged bleeding times, and mast cell granules undergoing unregulated 'kiss-and-run' fusion at the plasma membrane. {ECO:0000269|PubMed:12548288}.
uniprot
proteins
function
FUNCTION: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules (By similarity). Acts as a cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning (PubMed:25189619). {ECO:0000250|UniProtKB:Q86YV9, ECO:0000269|PubMed:25189619}.
uniprot
proteins
mass_dalton
87341
uniprot
proteins
pubmed
12548288
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
19010779
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
25189619
uniprot
proteins
sequence_length
805
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000250|UniProtKB:Q86YV9}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q86YV9}. Early endosome membrane {ECO:0000250|UniProtKB:Q86YV9}. Lysosome membrane {ECO:0000250|UniProtKB:Q86YV9}.
uniprot
proteins