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{{Infobox_gene}}
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'''Hermansky-Pudlak syndrome 1 protein''' is a [[protein]] that in humans is encoded by the ''HPS1'' [[gene]].<ref name="pmid8541858">{{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 | pmc =  | doi =10.1093/hmg/4.9.1665 }}</ref><ref name="pmid7573033">{{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 | doi =  }}</ref><ref name="entrez">{{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| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Hermansky-Pudlak syndrome 1
| HGNCid = 5163
| Symbol = HPS1
| AltSymbols =; HPS; MGC5277
| OMIM = 604982
| ECnumber =
| Homologene = 163
| MGIid = 2177763
  | GeneAtlas_image1 = PBB_GE_HPS1_203309_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_HPS1_203308_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_HPS1_210112_at_tn.png
  | Function =
| Component =
| Process =
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 3257
    | Hs_Ensembl = ENSG00000107521
    | Hs_RefseqProtein = NP_000186
    | Hs_RefseqmRNA = NM_000195
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 10
    | Hs_GenLoc_start = 100165945
    | Hs_GenLoc_end = 100196699
    | Hs_Uniprot = Q92902
    | Mm_EntrezGene = 192236
    | Mm_Ensembl = ENSMUSG00000025188
    | Mm_RefseqmRNA = NM_019424
    | Mm_RefseqProtein = NP_062297
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 42808508
    | Mm_GenLoc_end = 42833276
    | Mm_Uniprot = Q3TBI2
  }}
}}
'''Hermansky-Pudlak syndrome 1''', also known as '''HPS1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: HPS1 Hermansky-Pudlak syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3257| accessdate = }}</ref>


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{{PBB_Summary
{{PBB Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: HPS1 Hermansky-Pudlak syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3257| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez">{{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| accessdate = }}</ref>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==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==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=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= }}
*{{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  | author=Wildenberg SC, Oetting WS, Almodóvar C, ''et al.'' |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 |year= 1995 |pmid= 7573033 |doi= }}
*{{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 }}
*{{cite journal | author=Fukai K, Oh J, Frenk E, ''et al.'' |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 |year= 1996 |pmid= 8541858 |doi=  }}
*{{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 }}
*{{cite journal  | author=Oh J, Bailin T, Fukai K, ''et al.'' |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 }}
*{{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 | author=Bailin T, Oh J, Feng GH, ''et al.'' |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=  }}
*{{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 }}
*{{cite journal | author=Oh J, Ho L, Ala-Mello S, ''et al.'' |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=  }}
*{{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 }}
*{{cite journal | author=Wildenberg SC, Fryer JP, Gardner JM, ''et al.'' |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 }}
*{{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 }}
*{{cite journal | author=Dell'Angelica EC, Aguilar RC, Wolins N, ''et al.'' |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=  }}
*{{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 }}
*{{cite journal  | author=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=  }}
*{{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 }}
*{{cite journal | author=Horikawa T, Araki K, Fukai K, ''et al.'' |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=  }}
*{{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 }}
*{{cite journal | author=Suzuki T, Li W, Zhang Q, ''et al.'' |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 }}
*{{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  | author=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 }}
*{{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 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{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 }}
*{{cite journal | author=Chiang PW, Oiso N, Gautam R, ''et al.'' |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 }}
*{{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  | author=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 }}
*{{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 }}
*{{cite journal  | author=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 }}
*{{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 }}
*{{cite journal | author=Kobashi Y, Yoshida K, Miyashita N, ''et al.'' |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=  }}
*{{cite journal | author=Huizing M, Parkes JM, Helip-Wooley A, ''et al.'' |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}}
{{refend}}


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Latest revision as of 14:03, 31 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Hermansky-Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 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. 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.[3]

References

  1. ↑ Fukai K, Oh J, Frenk E, Almodovar C, Spritz RA (Feb 1996). "Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3". Hum Mol Genet. 4 (9): 1665–9. doi:10.1093/hmg/4.9.1665. PMID 8541858.
  2. ↑ Wildenberg SC, Oetting WS, Almodovar C, Krumwiede M, White JG, King RA (Nov 1995). "A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2". Am J Hum Genet. 57 (4): 755–65. PMC 1801499. PMID 7573033.
  3. ↑ 3.0 3.1 "Entrez Gene: HPS1 Hermansky-Pudlak syndrome 1".

External links

Further reading



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