HPS5 explained

Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.^{[1] [2] [3]}

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky–Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky–Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene.

External links

• GeneReviews/NCBI/NIH/UW entry on Hermansky–Pudlak syndrome

Further reading

• Nakajima D . Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones . DNA Res. . 9 . 3 . 99–106 . 2003 . 12168954 . 10.1093/dnares/9.3.99 . vanc. Okazaki N . Yamakawa H . 3 . Kikuno . R . Ohara . O . Nagase . T . free .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Zhang Q . Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky–Pudlak syndrome types 5 and 6 . Nat. Genet. . 33 . 2 . 145–53 . 2003 . 12548288 . 10.1038/ng1087 . vanc. Zhao B . Li W . 3 . Oiso . Naoki . Novak . Edward K. . Rusiniak . Michael E. . Gautam . Rashi . Chintala . Sreenivasulu . O'Brien . Edward P. . 23938527 .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC . Characterization of BLOC-2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6 . Traffic . 5 . 4 . 276–83 . 2004 . 15030569 . 10.1111/j.1600-0854.2004.0171.x . 20584286 . free .
• Huizing M . Cellular, molecular and clinical characterization of patients with Hermansky–Pudlak syndrome type 5 . Traffic . 5 . 9 . 711–22 . 2005 . 15296495 . 10.1111/j.1600-0854.2004.00208.x . vanc. Hess R . Dorward H . 3 . Claassen . David A. . Helip-Wooley . Amanda . Kleta . Robert . Kaiser-Kupfer . Muriel I. . White . James G. . Gahl . William A. . 35689893 . free .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Helip-Wooley A . Improper trafficking of melanocyte-specific proteins in Hermansky–Pudlak syndrome type-5 . J. Invest. Dermatol. . 127 . 6 . 1471–8 . 2007 . 17301833 . 10.1038/sj.jid.5700737 . vanc. Westbroek W . Dorward HM . 3 . Koshoffer . Amy . Huizing . Marjan . Boissy . Raymond E . Gahl . William A . 8369813 . free .
• Huizing M . Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky–Pudlak syndrome . Platelets . 18 . 2 . 150–7 . 2007 . 17365864 . 10.1080/13576500600936039 . vanc. Parkes JM . Helip-Wooley A . 3 . White . James G. . Gahl . William A. . 32161968 .

Notes and References

1. Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O . Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Res . 6 . 1 . 63–70 . Jul 1999 . 10231032 . 10.1093/dnares/6.1.63 . free .
2. Wixler V, Laplantine E, Geerts D, Sonnenberg A, Petersohn D, Eckes B, Paulsson M, Aumailley M . Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains . FEBS Lett . 445 . 2–3 . 351–5 . Apr 1999 . 10094488 . 10.1016/S0014-5793(99)00151-9 . 9218762 .
3. Web site: Entrez Gene: HPS5 Hermansky–Pudlak syndrome 5.