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HPS1  -  Hermansky-Pudlak syndrome 1

Homo sapiens

Synonyms: HPS, Hermansky-Pudlak syndrome 1 protein
 
 
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Disease relevance of HPS1

 

Psychiatry related information on HPS1

 

High impact information on HPS1

 

Chemical compound and disease context of HPS1

 

Biological context of HPS1

  • 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 [15].
  • The coat-color phenotype of young homozygous double-mutant mice deficient in subunits of BLOC-3 (HPS1) and BLOC-1 (pallidin) was indistinguishable from that of BLOC-1 single mutants [15].
  • Four novel mutations were discovered, including the first HPS1 missense mutation, 922T>C, in exon 8 [16].
  • However, the level of suppression, as well as extent to which up-regulation by isobutylmethylxanthine and cholera toxin was muted, was less that in HPS-1 melanocytes [17].
  • To characterize further the recently identified HPS-4 disease on molecular and clinical grounds, we first identified the genomic organization of HPS4, located on chromosome 22q11.2-q12.2, including its intron/exon boundaries [2].
 

Anatomical context of HPS1

 

Associations of HPS1 with chemical compounds

 

Physical interactions of HPS1

  • Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2 [25].
  • 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 [26].
 

Regulatory relationships of HPS1

  • The levels and expression of the proteins CD63 and granulophysin in platelets from control and from a Hermansky-Pudlak syndrome subject (a condition characterized by dense granule and lysosomal deficiencies and the accumulation of ceroid-like material in reticuloendothelial cells) were examined [27].
  • Immunological techniques were used to examine the localization of LAMP-2 in control platelets and those from an individual with Hermansky-Pudlak syndrome (HPS), a condition characterised by platelet dense granule deficiency [28].
 

Other interactions of HPS1

 

Analytical, diagnostic and therapeutic context of HPS1

References

  1. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Huizing, M., Anikster, Y., Fitzpatrick, D.L., Jeong, A.B., D'Souza, M., Rausche, M., Toro, J.R., Kaiser-Kupfer, M.I., White, J.G., Gahl, W.A. Am. J. Hum. Genet. (2001) [Pubmed]
  2. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Anderson, P.D., Huizing, M., Claassen, D.A., White, J., Gahl, W.A. Hum. Genet. (2003) [Pubmed]
  3. Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Huizing, M., Boissy, R.E., Gahl, W.A. Pigment Cell Res. (2002) [Pubmed]
  4. Neuropsychological impairments following hantavirus pulmonary syndrome. Hopkins, R.O., Larson-Lohr, V., Weaver, L.K., Bigler, E.D. Journal of the International Neuropsychological Society : JINS. (1998) [Pubmed]
  5. Construct validity of two heterosocial perception skill measures for assessing rape proclivity. McDonel, E.C., McFall, R.M. Violence and victims. (1991) [Pubmed]
  6. Acrofacial dysostosis with growth and mental retardation in three males, one with simultaneous Hermansky-Pudlak syndrome. Kelly, T.E., Cooke, R.J., Kester, R.W. Birth Defects Orig. Artic. Ser. (1977) [Pubmed]
  7. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Zhang, Q., Zhao, B., Li, W., Oiso, N., Novak, E.K., Rusiniak, M.E., Gautam, R., Chintala, S., O'Brien, E.P., Zhang, Y., Roe, B.A., Elliott, R.W., Eicher, E.M., Liang, P., Kratz, C., Legius, E., Spritz, R.A., O'Sullivan, T.N., Copeland, N.G., Jenkins, N.A., Swank, R.T. Nat. Genet. (2003) [Pubmed]
  8. 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]
  9. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Anikster, Y., Huizing, M., White, J., Shevchenko, Y.O., Fitzpatrick, D.L., Touchman, J.W., Compton, J.G., Bale, S.J., Swank, R.T., Gahl, W.A., Toro, J.R. Nat. Genet. (2001) [Pubmed]
  10. Hermansky-Pudlak syndrome with granulomatous colitis. Schinella, R.A., Greco, M.A., Cobert, B.L., Denmark, L.W., Cox, R.P. Ann. Intern. Med. (1980) [Pubmed]
  11. Abolition and modification of reentry within the His-Purkinje system by procainamide in man. Reddy, C.P., Lynch, M. Circulation (1978) [Pubmed]
  12. Intravenous ribavirin for hantavirus pulmonary syndrome: safety and tolerance during 1 year of open-label experience. Ribavirin Study Group. Chapman, L.E., Mertz, G.J., Peters, C.J., Jolson, H.M., Khan, A.S., Ksiazek, T.G., Koster, F.T., Baum, K.F., Rollin, P.E., Pavia, A.T., Holman, R.C., Christenson, J.C., Rubin, P.J., Behrman, R.E., Bell, L.J., Simpson, G.L., Sadek, R.F. Antivir. Ther. (Lond.) (1999) [Pubmed]
  13. Cellular entry of hantaviruses which cause hemorrhagic fever with renal syndrome is mediated by beta3 integrins. Gavrilovskaya, I.N., Brown, E.J., Ginsberg, M.H., Mackow, E.R. J. Virol. (1999) [Pubmed]
  14. Long-term studies of hantavirus reservoir populations in the southwestern United States: rationale, potential, and methods. Mills, J.N., Yates, T.L., Ksiazek, T.G., Peters, C.J., Childs, J.E. Emerging Infect. Dis. (1999) [Pubmed]
  15. 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]
  16. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hermos, C.R., Huizing, M., Kaiser-Kupfer, M.I., Gahl, W.A. Hum. Mutat. (2002) [Pubmed]
  17. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Boissy, R.E., Richmond, B., Huizing, M., Helip-Wooley, A., Zhao, Y., Koshoffer, A., Gahl, W.A. Am. J. Pathol. (2005) [Pubmed]
  18. 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]
  19. Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. Richmond, B., Huizing, M., Knapp, J., Koshoffer, A., Zhao, Y., Gahl, W.A., Boissy, R.E. J. Invest. Dermatol. (2005) [Pubmed]
  20. Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak Syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA. Sarangarajan, R., Budev, A., Zhao, Y., Gahl, W.A., Boissy, R.E. J. Invest. Dermatol. (2001) [Pubmed]
  21. Does Hermansky-Pudlak syndrome predispose to systemic lupus erythematosus? Mitsui, H., Komine, M., Watanabe, T., Kikuchi, K., Okochi, H., Tamaki, K. Br. J. Dermatol. (2002) [Pubmed]
  22. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Ciciotte, S.L., Gwynn, B., Moriyama, K., Huizing, M., Gahl, W.A., Bonifacino, J.S., Peters, L.L. Blood (2003) [Pubmed]
  23. Membranous complexes characteristic of melanocytes derived from patients with Hermansky-Pudlak syndrome type 1 are macroautophagosomal entities of the lysosomal compartment. Smith, J.W., Koshoffer, A., Morris, R.E., Boissy, R.E. Pigment Cell Res. (2005) [Pubmed]
  24. Antiadrenergic effects of adenosine on His-Purkinje automaticity. Evidence for accentuated antagonism. Lerman, B.B., Wesley, R.C., DiMarco, J.P., Haines, D.E., Belardinelli, L. J. Clin. Invest. (1988) [Pubmed]
  25. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Huizing, M., Scher, C.D., Strovel, E., Fitzpatrick, D.L., Hartnell, L.M., Anikster, Y., Gahl, W.A. Pediatr. Res. (2002) [Pubmed]
  26. 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]
  27. The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin. Nishibori, M., Cham, B., McNicol, A., Shalev, A., Jain, N., Gerrard, J.M. J. Clin. Invest. (1993) [Pubmed]
  28. The lysosomal granule membrane protein, LAMP-2, is also present in platelet dense granule membranes. Israels, S.J., McMillan, E.M., Robertson, C., Singhory, S., McNicol, A. Thromb. Haemost. (1996) [Pubmed]
  29. Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus. Huizing, M., Anikster, Y., White, J.G., Gahl, W.A. Mol. Genet. Metab. (2001) [Pubmed]
  30. A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. Schreyer-Shafir, N., Huizing, M., Anikster, Y., Nusinker, Z., Bejarano-Achache, I., Maftzir, G., Resnik, L., Helip-Wooley, A., Westbroek, W., Gradstein, L., Rosenmann, A., Blumenfeld, A. Hum. Mutat. (2006) [Pubmed]
  31. 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]
  32. Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1. Natsuga, K., Akiyama, M., Shimizu, T., Suzuki, T., Ito, S., Tomita, Y., Tanaka, J., Shimizu, H. J. Invest. Dermatol. (2005) [Pubmed]
  33. Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR. Griffin, A.E., Cobb, B.R., Anderson, P.D., Claassen, D.A., Helip-Wooley, A., Huizing, M., Gahl, W.A. Clin. Genet. (2005) [Pubmed]
 
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