HPS6
entrez
79803
canonical
uniprot
Q86YV9
canonical
ensembl
ENSG00000166189
resolver
ensp
ENSP00000299238
resolver
enst
ENST00000299238
resolver
genesymbol
HPS6
resolver
hgnc
HGNC:18817
resolver
uniprot
Q5VV69
resolver
uniprot
Q9H685
resolver
uniprot_entry
HPS6_HUMAN
resolver
uniprot_sec
Q5VV69
resolver
uniprot_sec
Q9H685
resolver
amino_acid_sequence
MKRSGTLRLLSDLSAFGGAARLRELVAGDSAVRVRGSPDGRHLLLLRPPGAVAPQLLVASRGPGAELERAWPAGQPSPLDAFFLPWPARPALVLVWESGLAEVWGAGVGPGWRPLQSTELCPGGGARVVAVAALRGRLVWCEERQARAEGPSGSPAAAFSHCVCVRTLEPSGEASTSLGRTHVLLHHCPAFGLLASCRQLFLVPTATTWPGVAHVLLIWSPGKGKVMVAAPRLGLSYSKSLNPGRGDTWDFRTLLRGLPGLLSPREPLAVHTWAPTPQGLLLLDFGGTVSLLQSHGGTRAVGTLQEAPVGPWGSAALGTFQGTLACVLGSTLELLDMGSGQLLERKVLSTDRVHLLEPPAPGMEDEEELETRGNLRLLSALGLFCVGWEAPQGVELPSAKDLVFEEACGYYQRRSLRGAQLTPEELRHSSTFRAPQALASILQGHLPPSALLTMLRTELRDYRGLEQLKAQLVAGDDEEAGWTELAEQEVARLLRTELIGDQLAQLNTVFQALPTAAWGATLRALQLQLDGNGKLRSQAPPDVWKKVLGGITAGKEPPNGILPPFELLCQCLCQLEPRWLPPFVELAQQQGGPGWGAGGPGLPLYRRALAVLGEEGTRPEALELELLLSSGRPKAVLQAVGQLVQKEQWDRALDAGLALGPSSPLLRSEIFKLLLAEFAQHRRLDAHLPLLCRLCPPELAPAELLLLLRTYLPDEVGPPTPFPEPGAEPPLTVGLLKALLEQTGAQGWLSGPVLSPYEDILWDPSTPPPTPPRDL
uniprot
proteins
disease_involvement
DISEASE: Hermansky-Pudlak syndrome 6 (HPS6) [MIM:614075]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269|PubMed:12548288, ECO:0000269|PubMed:17041891}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules (PubMed:17041891). 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:0000269|PubMed:17041891, ECO:0000269|PubMed:25189619}.
uniprot
proteins
mass_dalton
82975
uniprot
proteins
pubmed
12548288
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15030569
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16169070
uniprot
proteins
pubmed
16837549
uniprot
proteins
pubmed
17041891
uniprot
proteins
pubmed
25189619
uniprot
proteins
sequence_length
775
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000269|PubMed:15030569}. Cytoplasm, cytosol {ECO:0000269|PubMed:15030569}. Early endosome membrane {ECO:0000269|PubMed:16837549}. Lysosome membrane {ECO:0000269|PubMed:25189619}.
uniprot
proteins