From Wikipedia, the free encyclopedia
Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene .[ 5] [ 6] [ 7]
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.[ 7]
References
^ a b c ENSG00000288445 GRCh38: Ensembl release 89: ENSG00000110756, ENSG00000288445 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014418 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Jul 1999). "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. doi :10.1093/dnares/6.1.63 PMID 10231032 . ^ Wixler V, Laplantine E, Geerts D, Sonnenberg A, Petersohn D, Eckes B, Paulsson M, Aumailley M (Apr 1999). "Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains" . FEBS Lett . 445 (2–3): 351–5. doi :10.1016/S0014-5793(99)00151-9 PMID 10094488 . S2CID 9218762 . ^ a b "Entrez Gene: HPS5 Hermansky–Pudlak syndrome 5" .
External links
Further reading
Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones" . DNA Res . 9 (3): 99–106. doi :10.1093/dnares/9.3.99 PMID 12168954 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi :10.1073/pnas.242603899 . PMC 139241 PMID 12477932 . Zhang Q, Zhao B, Li W, et al. (2003). "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. doi :10.1038/ng1087 . PMID 12548288 . S2CID 23938527 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC (2004). "Characterization of BLOC-2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6" . Traffic . 5 (4): 276–83. doi :10.1111/j.1600-0854.2004.0171.x PMID 15030569 . S2CID 20584286 . Huizing M, Hess R, Dorward H, et al. (2005). "Cellular, molecular and clinical characterization of patients with Hermansky–Pudlak syndrome type 5" . Traffic . 5 (9): 711–22. doi :10.1111/j.1600-0854.2004.00208.x PMID 15296495 . S2CID 35689893 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Helip-Wooley A, Westbroek W, Dorward HM, et al. (2007). "Improper trafficking of melanocyte-specific proteins in Hermansky–Pudlak syndrome type-5". J. Invest. Dermatol . 127 (6): 1471–8. doi :10.1038/sj.jid.5700737 . PMID 17301833 . Huizing M, Parkes JM, Helip-Wooley A, et al. (2007). "Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky–Pudlak syndrome" . Platelets . 18 (2): 150–7. doi :10.1080/13576500600936039 . PMID 17365864 . S2CID 32161968 .
