Property Summary

NCBI Gene PubMed Count 12
Grant Count 4
Funding $159,721.67
PubMed Score 11.46
PubTator Score 8.50

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q86YV9 Q5VV69 Q9H685
Symbols BLOC2S3

Gene

Gene RIF (5)

PMID Text
25189619 HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes
22203954 Mutation of the protein-trafficking gene Hps6 increased sensitivity of melanoma cells to cis-diaminedichloroplatinum II treatment.
19843503 Molecular studies showed a variety of mutations in the single exon HPS6 gene, including frame shift, missense, and nonsense mutations as well as a approximately 20 kb deletion spanning the entire HPS6 genomic region.
16385451 Observational study of gene-disease association. (HuGE Navigator)
15030569 Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease.

AA Sequence

MKRSGTLRLLSDLSAFGGAARLRELVAGDSAVRVRGSPDGRHLLLLRPPGAVAPQLLVASRGPGAELERA      1 - 70
WPAGQPSPLDAFFLPWPARPALVLVWESGLAEVWGAGVGPGWRPLQSTELCPGGGARVVAVAALRGRLVW     71 - 140
CEERQARAEGPSGSPAAAFSHCVCVRTLEPSGEASTSLGRTHVLLHHCPAFGLLASCRQLFLVPTATTWP    141 - 210
GVAHVLLIWSPGKGKVMVAAPRLGLSYSKSLNPGRGDTWDFRTLLRGLPGLLSPREPLAVHTWAPTPQGL    211 - 280
LLLDFGGTVSLLQSHGGTRAVGTLQEAPVGPWGSAALGTFQGTLACVLGSTLELLDMGSGQLLERKVLST    281 - 350
DRVHLLEPPAPGMEDEEELETRGNLRLLSALGLFCVGWEAPQGVELPSAKDLVFEEACGYYQRRSLRGAQ    351 - 420
LTPEELRHSSTFRAPQALASILQGHLPPSALLTMLRTELRDYRGLEQLKAQLVAGDDEEAGWTELAEQEV    421 - 490
ARLLRTELIGDQLAQLNTVFQALPTAAWGATLRALQLQLDGNGKLRSQAPPDVWKKVLGGITAGKEPPNG    491 - 560
ILPPFELLCQCLCQLEPRWLPPFVELAQQQGGPGWGAGGPGLPLYRRALAVLGEEGTRPEALELELLLSS    561 - 630
GRPKAVLQAVGQLVQKEQWDRALDAGLALGPSSPLLRSEIFKLLLAEFAQHRRLDAHLPLLCRLCPPELA    631 - 700
PAELLLLLRTYLPDEVGPPTPFPEPGAEPPLTVGLLKALLEQTGAQGWLSGPVLSPYEDILWDPSTPPPT    701 - 770
PPRDL                                                                     771 - 775
//

Text Mined References (15)

PMID Year Title
25189619 2014 HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes.
22511774 2012 BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles.
22203954 2012 Targeting protein-trafficking pathways alters melanoma treatment sensitivity.
19946888 2010 Defining the membrane proteome of NK cells.
19843503 2009 Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
17041891 2006 A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
16837549 2006 BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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