HPS5
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.{{cite journal |vauthors=Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Res | volume = 6 | issue = 1 | pages = 63–70 |date=Jul 1999 | pmid = 10231032 | doi =10.1093/dnares/6.1.63 | doi-access = free }}{{cite journal |vauthors=Wixler V, Laplantine E, Geerts D, Sonnenberg A, Petersohn D, Eckes B, Paulsson M, Aumailley M | title = Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains | journal = FEBS Lett | volume = 445 | issue = 2–3 | pages = 351–5 |date=Apr 1999 | pmid = 10094488 | doi =10.1016/S0014-5793(99)00151-9 | s2cid = 9218762 | doi-access = | bibcode = 1999FEBSL.445..351W }}{{cite web | title = Entrez Gene: HPS5 Hermansky–Pudlak syndrome 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11234}}
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.
References
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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
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- {{cite journal | author=Nakajima D |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=10.1093/dnares/9.3.99 |name-list-style=vanc| author2=Okazaki N | author3=Yamakawa H | display-authors=3 | last4=Kikuno | first4=R | last5=Ohara | first5=O | last6=Nagase | first6=T | doi-access=free }}
- {{cite journal | author=Strausberg RL |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 |name-list-style=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal | author=Zhang Q |title=Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky–Pudlak syndrome types 5 and 6 |journal=Nat. Genet. |volume=33 |issue= 2 |pages= 145–53 |year= 2003 |pmid= 12548288 |doi= 10.1038/ng1087 |name-list-style=vanc| author2=Zhao B | author3=Li W | display-authors=3 | last4=Oiso | first4=Naoki | last5=Novak | first5=Edward K. | last6=Rusiniak | first6=Michael E. | last7=Gautam | first7=Rashi | last8=Chintala | first8=Sreenivasulu | last9=O'Brien | first9=Edward P. |s2cid=23938527 }}
- {{cite journal | author=Ota T |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 |name-list-style=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }}
- {{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 |s2cid=20584286 |doi-access=free }}
- {{cite journal | author=Huizing M |title=Cellular, molecular and clinical characterization of patients with Hermansky–Pudlak syndrome type 5 |journal=Traffic |volume=5 |issue= 9 |pages= 711–22 |year= 2005 |pmid= 15296495 |doi= 10.1111/j.1600-0854.2004.00208.x |name-list-style=vanc| author2=Hess R | author3=Dorward H | display-authors=3 | last4=Claassen | first4=David A. | last5=Helip-Wooley | first5=Amanda | last6=Kleta | first6=Robert | last7=Kaiser-Kupfer | first7=Muriel I. | last8=White | first8=James G. | last9=Gahl | first9=William A. |s2cid=35689893 | doi-access=free }}
- {{cite journal | author=Gerhard DS |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 |name-list-style=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
- {{cite journal | author=Helip-Wooley A |title=Improper trafficking of melanocyte-specific proteins in Hermansky–Pudlak syndrome type-5 |journal=J. Invest. Dermatol. |volume=127 |issue= 6 |pages= 1471–8 |year= 2007 |pmid= 17301833 |doi= 10.1038/sj.jid.5700737 |name-list-style=vanc| author2=Westbroek W | author3=Dorward HM | display-authors=3 | last4=Koshoffer | first4=Amy | last5=Huizing | first5=Marjan | last6=Boissy | first6=Raymond E | last7=Gahl | first7=William A |pmc=8369813 | doi-access=free }}
- {{cite journal | author=Huizing M |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 |name-list-style=vanc| author2=Parkes JM | author3=Helip-Wooley A | display-authors=3 | last4=White | first4=James G. | last5=Gahl | first5=William A. |s2cid=32161968 |url=https://zenodo.org/record/1234499}}
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