| 释义 |
- References
- External links
- Further reading
{{Infobox_gene}}Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.[1][2]{{PBB Summary
| section_title =
| summary_text = This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky–Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined.[2]
}}References1. ^{{cite journal |vauthors=Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR | title = Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico | journal = Nat Genet | volume = 28 | issue = 4 | pages = 376–80 |date=Jul 2001 | pmid = 11455388 | pmc = | doi = 10.1038/ng576 }}
2. ^1 {{cite web | title = Entrez Gene: HPS3 Hermansky–Pudlak syndrome 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84343| accessdate = }}
External links- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hps GeneReviews/NCBI/NIH/UW entry on Hermansky–Pudlak syndrome]
Further reading{{refbegin | 2}}- {{cite journal |vauthors=Huizing M, Gahl WA |title=Disorders of vesicles of lysosomal lineage: the Hermansky–Pudlak syndromes. |journal=Curr. Mol. Med. |volume=2 |issue= 5 |pages= 451–67 |year= 2003 |pmid= 12125811 |doi=10.2174/1566524023362357 }}
- {{cite journal |vauthors=Oh J, Ho L, Ala-Mello S, etal |title=Mutation analysis of patients with Hermansky–Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 593–8 |year= 1998 |pmid= 9497254 |doi=10.1086/301757 | pmc=1376951 }}
- {{cite journal |vauthors=Huizing M, Anikster Y, Fitzpatrick DL, etal |title=Hermansky–Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency |journal=Am. J. Hum. Genet. |volume=69 |issue= 5 |pages= 1022–32 |year= 2001 |pmid= 11590544 |doi=10.1086/324168 | pmc=1274349 }}
- {{cite journal |vauthors=Suzuki T, Li W, Zhang Q, etal |title=The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky–Pudlak syndrome-3 gene |journal=Genomics |volume=78 |issue= 1–2 |pages= 30–7 |year= 2002 |pmid= 11707070 |doi= 10.1006/geno.2001.6644 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
- {{cite journal |vauthors=Nazarian R, Falcón-Pérez JM, Dell'Angelica EC |title=Biogenesis of lysosome-related organelles complex 3 (BLOC-3): A complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4 |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 15 |pages= 8770–5 |year= 2003 |pmid= 12847290 |doi= 10.1073/pnas.1532040100 | pmc=166388 }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
- {{cite journal |vauthors=Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC |title=Characterization of BLOC-2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6 |journal=Traffic |volume=5 |issue= 4 |pages= 276–83 |year= 2004 |pmid= 15030569 |doi= 10.1111/j.1600-0854.2004.0171.x }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Boissy RE, Richmond B, Huizing M, etal |title=Melanocyte-Specific Proteins Are Aberrantly Trafficked in Melanocytes of Hermansky–Pudlak Syndrome-Type 3 |journal=Am. J. Pathol. |volume=166 |issue= 1 |pages= 231–40 |year= 2005 |pmid= 15632015 |doi= 10.1016/S0002-9440(10)62247-X| pmc=1602298 }}
- {{cite journal |vauthors=Helip-Wooley A, Westbroek W, Dorward H, etal |title=Association of the Hermansky–Pudlak syndrome type-3 protein with clathrin |journal=BMC Cell Biol. |volume=6|pages= 33 |year= 2006 |pmid= 16159387 |doi= 10.1186/1471-2121-6-33 | pmc=1249560 }}
- {{cite journal |vauthors=Huizing M, Parkes JM, Helip-Wooley A, etal |title=Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky–Pudlak syndrome |journal=Platelets |volume=18 |issue= 2 |pages= 150–7 |year= 2007 |pmid= 17365864 |doi= 10.1080/13576500600936039 }}
{{refend}}{{gene-3-stub}} |