Property Summary

NCBI Gene PubMed Count 44
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 1.2e-03
osteosarcoma -1.955 3.8e-04
subependymal giant cell astrocytoma 1.169 3.6e-02

Protein-protein Interaction (11)

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)
17975119 Observational study of gene-disease association. (HuGE Navigator)
16431308 Observational study of genotype prevalence. (HuGE Navigator)
16417222 Observational study of genotype prevalence. (HuGE Navigator)
16385451 Observational study of gene-disease association. (HuGE Navigator)
16020891 Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1.
12847290 Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
12756248 observations demonstrate that the Hermansky-Pudlak syndrome 1(HPS1) and HPS4 proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles
12663659 identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles
12442288 Four novel mutations were discovered and the diagnosis of HPS-1, available only on molecular grounds, has important prognostic and treatment implications.
12125811 Description of mutations in HPS genes that cause Hermansky-Pudlak syndrome (review)

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.
21833017 2011 Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
20662851 2011 Novel mutations in the HPS1 gene among Puerto Rican patients.
20514622 2010 Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).
20048159 2010 Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.
19865097 2010 A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
19665357 2009 The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.
19320733 2009 Pigmentation-related genes and their implication in malignant melanoma susceptibility.
19023099 2009 Gene variants associated with ischemic stroke: the cardiovascular health study.
18463683 2008 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
17975119 2008 Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.
17365864 2007 Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16431308 2006 Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype.
16417222 2006 Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16020891 2005 Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene.
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.
12923531 2003 Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
12847290 2003 Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
12756248 2003 BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.
12663659 2003 The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12442288 2002 Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.
12125811 2002 Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.
11836498 2002 Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
10971344 2000 Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes.
10798370 2000 Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.
10625677 2000 Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene.
10094567 1999 Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
9579545 1998 Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico.
9497254 1998 Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
9182823 1997 Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
8896559 1996 Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
8541858 1995 Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.
7573033 1995 A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.