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HPS1

{{Short description|Protein-coding gene in humans}}

{{Infobox_gene}}

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.{{cite journal |vauthors=Fukai K, Oh J, Frenk E, Almodovar C, Spritz RA | title = Linkage disequilibrium mapping of the gene for Hermansky–Pudlak syndrome to chromosome 10q23.1-q23.3 | journal = Hum Mol Genet | volume = 4 | issue = 9 | pages = 1665–9 |date=Feb 1996 | pmid = 8541858 | doi =10.1093/hmg/4.9.1665 | url = http://doc.rero.ch/record/289792/files/4-9-1665.pdf }}{{cite journal |vauthors=Wildenberg SC, Oetting WS, Almodovar C, Krumwiede M, White JG, King RA | title = A gene causing Hermansky–Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2 | journal = Am J Hum Genet | volume = 57 | issue = 4 | pages = 755–65 |date=Nov 1995 | pmid = 7573033 | pmc = 1801499 }}{{cite web | title = Entrez Gene: HPS1 Hermansky–Pudlak syndrome 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3257}}

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky–Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet.{{cite web | title = Entrez Gene: HPS1 Hermansky–Pudlak syndrome 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3257}}

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 |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, Bailin T, Fukai K, etal |title=Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 300–6 |year= 1996 |pmid= 8896559 |doi= 10.1038/ng1196-300 |s2cid=25296741 }}
  • {{cite journal |vauthors=Bailin T, Oh J, Feng GH, etal |title=Organization and nucleotide sequence of the human Hermansky–Pudlak syndrome (HPS) gene. |journal=J. Invest. Dermatol. |volume=108 |issue= 6 |pages= 923–7 |year= 1997 |pmid= 9182823 |doi=10.1111/1523-1747.ep12294634 |doi-access=free }}
  • {{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=Wildenberg SC, Fryer JP, Gardner JM, etal |title=Identification of a novel transcript produced by the gene responsible for the Hermansky–Pudlak syndrome in Puerto Rico. |journal=J. Invest. Dermatol. |volume=110 |issue= 5 |pages= 777–81 |year= 1998 |pmid= 9579545 |doi= 10.1046/j.1523-1747.1998.00183.x |doi-access= free }}
  • {{cite journal |vauthors=Dell'Angelica EC, Aguilar RC, Wolins N, etal |title=Molecular characterization of the protein encoded by the Hermansky–Pudlak syndrome type 1 gene. |journal=J. Biol. Chem. |volume=275 |issue= 2 |pages= 1300–6 |year= 2000 |pmid= 10625677 |doi=10.1074/jbc.275.2.1300 |doi-access=free }}
  • {{cite journal |vauthors=Huizing M, Anikster Y, Gahl WA |title=Characterization of a partial pseudogene homologous to the Hermansky–Pudlak syndrome gene HPS-1; relevance for mutation detection. |journal=Hum. Genet. |volume=106 |issue= 3 |pages= 370–3 |year= 2000 |pmid= 10798370 |doi=10.1007/s004390051053 |doi-broken-date=1 November 2024 |url=https://zenodo.org/record/1232964 }}
  • {{cite journal |vauthors=Horikawa T, Araki K, Fukai K, etal |title=Heterozygous HPS1 mutations in a case of Hermansky–Pudlak syndrome with giant melanosomes. |journal=Br. J. Dermatol. |volume=143 |issue= 3 |pages= 635–40 |year= 2000 |pmid= 10971344 |doi=10.1111/j.1365-2133.2000.03725.x |s2cid=9586360 }}
  • {{cite journal |vauthors=Suzuki T, Li W, Zhang Q, etal |title=Hermansky–Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. |journal=Nat. Genet. |volume=30 |issue= 3 |pages= 321–4 |year= 2002 |pmid= 11836498 |doi= 10.1038/ng835 |s2cid=2470873 }}
  • {{cite journal |vauthors=Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA |title=Hermansky–Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. |journal=Hum. Mutat. |volume=20 |issue= 6 |pages= 482 |year= 2002 |pmid= 12442288 |doi= 10.1002/humu.9097 |s2cid=9313514 |doi-access=free }}
  • {{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 |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal |vauthors=Chiang PW, Oiso N, Gautam R, etal |title=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. |journal=J. Biol. Chem. |volume=278 |issue= 22 |pages= 20332–7 |year= 2003 |pmid= 12663659 |doi= 10.1074/jbc.M300090200 |doi-access= free }}
  • {{cite journal |vauthors=Martina JA, Moriyama K, Bonifacino JS |title=BLOC-3, a protein complex containing the Hermansky–Pudlak syndrome gene products HPS1 and HPS4. |journal=J. Biol. Chem. |volume=278 |issue= 31 |pages= 29376–84 |year= 2003 |pmid= 12756248 |doi= 10.1074/jbc.M301294200 |doi-access= free }}
  • {{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 |bibcode=2003PNAS..100.8770N |doi-access=free }}
  • {{cite journal |vauthors=Kobashi Y, Yoshida K, Miyashita N, etal |title=Hermansky–Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene. |journal=Intern. Med. |volume=44 |issue= 6 |pages= 616–21 |year= 2005 |pmid= 16020891 |doi=10.2169/internalmedicine.44.616 |doi-access=free }}
  • {{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 |s2cid=32161968 |url= https://zenodo.org/record/1234499 }}

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