Property Summary

NCBI Gene PubMed Count 27
PubMed Score 24.54
PubTator Score 20.52

Knowledge Summary


No data available


  Differential Expression (5)

Disease log2 FC p
psoriasis -1.700 4.6e-04
osteosarcoma -2.586 9.0e-09
intraductal papillary-mucinous adenoma (... 1.300 2.9e-03
intraductal papillary-mucinous neoplasm ... 1.100 4.5e-02
ovarian cancer -1.300 3.8e-06

 GWAS Trait (1)

Protein-protein Interaction (6)

Gene RIF (12)

24168225 These findings suggested the involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia.
23563589 These results suggest that the HPS4 gene confers a susceptibility to schizophrenia.
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.
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.
18463683 Observational study of gene-disease association. (HuGE Navigator)
16431308 Observational study of genotype prevalence. (HuGE Navigator)
12847290 HPS4 but not HPS3 associates with HPS1 in a complex, which we term biogenesis of lysosome-related organelles complex 3 (BLOC-3)
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
12664304 Hermansky-Pudlak syndrome type 4 (HPS-4) patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis.
12663659 identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles
11836498 identification of mutations which establish HPS4 as important in Herman-Pudlak syndrome, and identification of mouse homolog light-ear gene

AA Sequence

LKHGVNLL                                                                  701 - 708

Text Mined References (31)

PMID Year Title
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24270810 2013 High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy.
24168225 2013 Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.
23563589 2013 An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
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.
20048159 2010 Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19684574 2009 Silencing by small RNAs is linked to endosomal trafficking.
18463683 2008 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
18088087 2008 Phosphoproteome of resting human platelets.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17365864 2007 Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
16431308 2006 Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype.
16420244 2006 Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
15941405 2005 The CHiPS Domain--ancient traces for the Hermansky-Pudlak syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15461802 2004 A genome annotation-driven approach to cloning the human ORFeome.
15108212 2004 Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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.
12664304 2003 Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.
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.
12529303 2003 Reevaluating human gene annotation: a second-generation analysis of chromosome 22.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11836498 2002 Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
11258795 2001 Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping.
10591208 1999 The DNA sequence of human chromosome 22.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.