Property Summary

NCBI Gene PubMed Count 12
PubMed Score 11.46
PubTator Score 8.50

Knowledge Summary

Patent

No data available

Expression

Pathway (1)

Protein-protein Interaction (2)

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).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
15030569 2004 Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12548288 2003 Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.