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HPS4  -  Hermansky-Pudlak syndrome 4

Homo sapiens

Synonyms: Hermansky-Pudlak syndrome 4 protein, KIAA1667, LE, Light-ear protein homolog
 
 
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Disease relevance of HPS4

  • We conclude that pulmonary fibrosis occurs as part of HPS-4 and that HPS should be considered in all ethnic groups [1].
  • Of the 8 patients with confirmed colitis, 7 had the HPS-1 subtype, and 1 had the HPS-4 subtype [2].
  • Testing included pulmonary function tests, chronic dyspnea evaluation (Baseline/Transition Dyspnea Index [BDI/TDI]), and graded cycle exercise with cardioventilatory monitoring and Borg scaling of B and LE [3].
  • RESULTS: Daily increments and cumulative volumes of enteral feeds (mL/kg birth weight/d) during the first week of life were significantly higher in LP (n = 18) than LE (n = 19) [4].
  • It was found that at the end of the 28th week EX had reduced the rate of weight gain in OB and LE rats [5].
 

High impact information on HPS4

  • These results suggest that the HPS4 and HPS1 proteins may function in the same pathway of organelle biogenesis [6].
  • Transcription for a hybrid SV40 promoter-beta globin coding sequence recombinant initiates from both early-early (EE) and late-early (LE) SV40 start sites (EES and LES) in the absence of DNA replication [7].
  • Here we have identified and characterized endogenous HPS3 and HPS4 proteins from HeLa cells [8].
  • Mutant fibroblasts deficient in either HPS1 or HPS4 displayed abnormal localization of lysosomes and late endosomes, which were less concentrated at the juxtanuclear region in mutant cells than in control fibroblasts [8].
  • Taken together, these observations suggest that HPS1 and HPS4 are components of a protein complex that regulates the intracellular localization of lysosomes and late endosomes and may function in a BLOC-1-dependent pathway for melanosome biogenesis [8].
 

Chemical compound and disease context of HPS4

  • The aim of the present study was to investigate regulation of mRNA, coding for TGFbeta ligands and specific receptors, by novel antitumor antibiotic landomycin E (LE) in human breast adenocarcinoma cells of MCF-7 line, sensitive and resistant to anti-cancer agent doxorubicin [9].
  • A probabilistic model of decompression sickness (DCS) risk based on linear-exponential (LE) kinetics has given the best fit of the human air and nitrox DCS database [10].
 

Biological context of HPS4

 

Anatomical context of HPS4

  • In the cytosol, HPS1 (but not HPS4) is part of yet another complex, termed BLOC-5 [11].
  • Subjects with the highest percentage of slow-twitch muscle fibers (mean ST%=51.14) rated LE and CE significantly lower ( mean of all power outputs, 0-300 W) than those with the lowest ST% (mean=34.52) [15].
  • The linear everting (LE) catheter has been developed to safely guide a Falloposcope into the entire length of Fallopian tube in order to observe the tubal lumen [16].
  • RESULTS: A 77-year-old man had multiple and diffuse clear vesicles on the endothelium of his left eye (LE) [17].
  • The influence of lens epithelium (LE) of adult frogs on the character of transdifferentiation of retinal pigmented epithelium (RPE) of adult frogs and tadpoles of Rana temporaria has been studied [18].
 

Associations of HPS4 with chemical compounds

  • Analysis of LE-ACS2 phosphoamino acids indicated that serine residue(s) were phosphorylated [13].
  • The predictors time on zidovudine (Ri = .05, P = .002) and Walter Reed staging (Ri = .03, P = .01) were additionally included in multiple regression analysis for tritan LE [19].
  • Ethylene activated the LX gene expression in detached young leaves while LE gene expression, which could be transiently induced by wounding, appeared to be activated by abscisic acid [20].
  • The work loads corresponded to 59 and 60% of peak pulmonary O2 uptake (VO2) during LE and AE, respectively [21].
  • Also, Uni, PsPIN1, PsPK2 and LE are expressed differentially in the leaf mutants, suggesting that mutual regulation by auxin and gibberellin promotes compound leaf development [22].
 

Physical interactions of HPS4

  • This link establishes the evolutionary conservation of a protein complex (HPS-1/HPS-4) that functions similarly to Mon1/Ccz1 in vesicle trafficking to lysosome-related organelles of diverse eukaryotic species [12].
 

Other interactions of HPS4

  • Within BLOC-3, HPS1 and HPS4 are components of a discrete approximately 200-kDa module termed BLOC-4 [11].
 

Analytical, diagnostic and therapeutic context of HPS4

  • Co-immunoprecipitation experiments demonstrated that epitope-tagged and endogenous HPS1 and HPS4 proteins assemble with each other in vivo [23].
  • Size exclusion chromatography and sedimentation velocity analyses of the cytosolic fraction indicate that HPS1 and HPS4 form a moderately asymmetric protein complex with a molecular mass of approximately 175 kDa [23].
  • Both LX and LE RNase genes had originally been demonstrated to be induced after phosphate starvation of tomato cell culture but nothing was known about their expression or function in plants [20].
  • Three ratings of perceived exertion were made at each stage of the exercise test: leg effort (LE), cardiorespiratory effort (CE), and leg pain (LP) [15].
  • The linear estimation (LE) and spline surface Laplacian (SL) method were applied to single-trial EEG data [24].

References

  1. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. Bachli, E.B., Brack, T., Eppler, E., Stallmach, T., Trüeb, R.M., Huizing, M., Gahl, W.A. Am. J. Med. Genet. A (2004) [Pubmed]
  2. Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. Hussain, N., Quezado, M., Huizing, M., Geho, D., White, J.G., Gahl, W., Mannon, P. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association. (2006) [Pubmed]
  3. The impact of exercise reconditioning on breathlessness in severe chronic airflow limitation. O'Donnell, D.E., McGuire, M., Samis, L., Webb, K.A. Am. J. Respir. Crit. Care Med. (1995) [Pubmed]
  4. Photoprotection of parenteral nutrition enhances advancement of minimal enteral nutrition in preterm infants. Khashu, M., Harrison, A., Lalari, V., Gow, A., Lavoie, J.C., Chessex, P. Semin. Perinatol. (2006) [Pubmed]
  5. Long-term exercise training and retirement in genetically obese rats: effects on food intake, feeding efficiency and carcass composition. Jen, K.L., Almario, R., Ilagan, J., Zhong, S., Archer, P., Lin, P.K. Int. J. Obes. Relat. Metab. Disord. (1992) [Pubmed]
  6. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Suzuki, T., Li, W., Zhang, Q., Karim, A., Novak, E.K., Sviderskaya, E.V., Hill, S.P., Bennett, D.C., Levin, A.V., Nieuwenhuis, H.K., Fong, C.T., Castellan, C., Miterski, B., Swank, R.T., Spritz, R.A. Nat. Genet. (2002) [Pubmed]
  7. Transcription from the SV40 early-early and late-early overlapping promoters in the absence of DNA replication. Wasylyk, B., Wasylyk, C., Matthes, H., Wintzerith, M., Chambon, P. EMBO J. (1983) [Pubmed]
  8. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Nazarian, R., Falcón-Pérez, J.M., Dell'Angelica, E.C. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  9. Effect of landomycin E on expression of mRNA coding for transforming growth factor beta ligands and specific receptors in MCF-7 cells. Panchuk, R., Korynevska, A., Stoika, R. Experimental oncology. (2005) [Pubmed]
  10. Does the time course of bubble evolution explain decompression sickness risk? Ball, R., Himm, J., Homer, L.D., Thalmann, E.D. Undersea & hyperbaric medicine : journal of the Undersea and Hyperbaric Medical Society, Inc. (1995) [Pubmed]
  11. 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. Chiang, P.W., Oiso, N., Gautam, R., Suzuki, T., Swank, R.T., Spritz, R.A. J. Biol. Chem. (2003) [Pubmed]
  12. Longin-like folds identified in CHiPS and DUF254 proteins: Vesicle trafficking complexes conserved in eukaryotic evolution. Kinch, L.N., Grishin, N.V. Protein Sci. (2006) [Pubmed]
  13. Phosphorylation of tomato 1-aminocyclopropane-1-carboxylic acid synthase, LE-ACS2, at the C-terminal region. Tatsuki, M., Mori, H. J. Biol. Chem. (2001) [Pubmed]
  14. General exercise training improves ventilatory and peripheral muscle strength and endurance in chronic airflow limitation. O'Donnell, D.E., McGuire, M., Samis, L., Webb, K.A. Am. J. Respir. Crit. Care Med. (1998) [Pubmed]
  15. A category-ratio perceived exertion scale: relationship to blood and muscle lactates and heart rate. Noble, B.J., Borg, G.A., Jacobs, I., Ceci, R., Kaiser, P. Medicine and science in sports and exercise. (1983) [Pubmed]
  16. Falloposcopic tuboplasty for bilateral tubal occlusion. A novel infertility treatment as an alternative for in-vitro fertilization? Sueoka, K., Asada, H., Tsuchiya, S., Kobayashi, N., Kuroshima, M., Yoshimura, Y. Hum. Reprod. (1998) [Pubmed]
  17. Pseudo-endothelial dystrophy associated with emulsified silicone oil. Azuara-Blanco, A., Dua, H.S., Pillai, C.T. Cornea (1999) [Pubmed]
  18. Transdifferentiation of pigmented epithelium induced by the influence of lens epithelium in frogs. Lopashov, G.V. Differentiation (1983) [Pubmed]
  19. HIV-related ocular microangiopathic syndrome and color contrast sensitivity. Geier, S.A., Hammel, G., Bogner, J.R., Kronawitter, U., Berninger, T., Goebel, F.D. Invest. Ophthalmol. Vis. Sci. (1994) [Pubmed]
  20. Senescence-induced RNases in tomato. Lers, A., Khalchitski, A., Lomaniec, E., Burd, S., Green, P.J. Plant Mol. Biol. (1998) [Pubmed]
  21. High lactate and NH3 release during arm vs. leg exercise is not due to beta-adrenoceptor stimulation. Jensen-Urstad, M., Ahlborg, G., Sahlin, K. J. Appl. Physiol. (1993) [Pubmed]
  22. Hormone interactions and regulation of Unifoliata, PsPK2, PsPIN1 and LE gene expression in pea (Pisum sativum) shoot tips. Bai, F., DeMason, D.A. Plant Cell Physiol. (2006) [Pubmed]
  23. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. Martina, J.A., Moriyama, K., Bonifacino, J.S. J. Biol. Chem. (2003) [Pubmed]
  24. Functional imaging of postmovement beta event-related synchronization. van Burik, M., Pfurtscheller, G. Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. (1999) [Pubmed]
 
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