Property Summary

NCBI Gene PubMed Count 44
Grant Count 20
R01 Count 9
Funding $2,274,895.04
PubMed Score 0.92
PubTator Score 70.04

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
psoriasis 1.200 0.001
osteosarcoma -1.955 0.000
subependymal giant cell astrocytoma 1.169 0.036

Gene RIF (20)

PMID Text
23084991 BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 results in the mislocalization of Rab32 and Rab38.
21833017 Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries.
20662851 a previously unreported missense mutation (G313S) at the 3' splice junction of exon 10 of Hermansky-Pudlak syndrome 1 protein resulted in activation of a cryptic intronic splice site causing an aberrantly spliced HPS1 mRNA
20514622 Three different mutations in the HPS1 gene were found in the two families.
20048159 Data show that recombinant HPS1-HPS4 produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 effector in the biogenesis of lysosome-related organelles.
19865097 Observational study of gene-disease association. (HuGE Navigator)
19665357 The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.
19320733 Observational study of gene-disease association. (HuGE Navigator)
19023099 Observational study of gene-disease association. (HuGE Navigator)
18463683 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMTMLEKLSDTYT      1 - 70
CFSTENGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLA     71 - 140
QRVQLWEHFQSLLWTYSRLREQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAF    141 - 210
LLVHSKLLAFYSSHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTG    211 - 280
PTGGSSAETETDSFSLPEEYFTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDTLQTLVPHCPVPSGPRR    281 - 350
IFLDANVKESYCPLVPHTMYCLPLWQGINLVLLTRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPGASLR    351 - 420
SQPLVGDLRQRMDKFVKNRGAQEIQSTWLEFKAKAFSKSEPGSSWELLQACGKLKRQLCAIYRLNFLTTA    421 - 490
PSRGGPHLPQHLQDQVQRLMREKLTDWKDFLLVKSRRNITMVSYLEDFPGLVHFIYVDRTTGQMVAPSLN    491 - 560
CSQKTSSELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTLLFQEGDFYCSYFLWFENDMGYKLQMIEVPV    561 - 630
LSDDSVPIGMLGGDYYRKLLRYYSKNRPTEAVRCYELLALHLSVIPTDLLVQQAGQLARRLWEASRIPLL    631 - 700
//

Text Mined References (46)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25468649 2015 In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.
25400188 2014 An intractable case of Hermansky-Pudlak syndrome.
24583434 2014 Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia.
24134621 2014 Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.
23668539 2013 Albinism in Europe.
23324268 2013 Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23103514 2013 A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).
23084991 2012 BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.
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