Property Summary

NCBI Gene PubMed Count 27
Grant Count 13
R01 Count 10
Funding $1,361,199.6
PubMed Score 24.54
PubTator Score 20.52

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
psoriasis -1.700 0.000
osteosarcoma -2.586 0.000
intraductal papillary-mucinous adenoma (... 1.300 0.003
intraductal papillary-mucinous neoplasm ... 1.100 0.045
ovarian cancer -1.300 0.000

Gene RIF (12)

PMID Text
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.
More...

AA Sequence

MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDS      1 - 70
PPTLVRLRKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWD     71 - 140
TFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLT    141 - 210
AKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGS    211 - 280
AQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVL    281 - 350
GLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDT    351 - 420
AISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGL    421 - 490
DEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP    491 - 560
LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFL    561 - 630
QAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLAPAARSSGFPNPQDGAFSLSGKAKQKL    631 - 700
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.
More...