HPS3: Difference between revisions

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{{Infobox_gene}}
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'''Hermansky-Pudlak syndrome 3 protein''' is a [[protein]] that in humans is encoded by the ''HPS3'' [[gene]].<ref name="pmid11455388">{{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 }}</ref><ref name="entrez"/>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Hermansky-Pudlak syndrome 3
| HGNCid = 15597
| Symbol = HPS3
| AltSymbols =; DKFZp686F0413; FLJ22704; SUTAL
| OMIM = 606118
| ECnumber = 
| Homologene = 13019
| MGIid = 2153839
| GeneAtlas_image1 = PBB_GE_HPS3_gnf1h00765_at_tn.png
| GeneAtlas_image2 = PBB_GE_HPS3_gnf1h05859_s_at_tn.png
| Function =
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006996 |text = organelle organization and biogenesis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 84343
    | Hs_Ensembl = ENSG00000163755
    | Hs_RefseqProtein = NP_115759
    | Hs_RefseqmRNA = NM_032383
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 3
    | Hs_GenLoc_start = 150330061
    | Hs_GenLoc_end = 150373995
    | Hs_Uniprot = Q969F9
    | Mm_EntrezGene = 12807
    | Mm_Ensembl = ENSMUSG00000027615
    | Mm_RefseqmRNA = NM_080634
    | Mm_RefseqProtein = NP_542365
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 3
    | Mm_GenLoc_start = 20188102
    | Mm_GenLoc_end = 20227435
    | Mm_Uniprot = Q3TAA3
  }}
}}
'''Hermansky-Pudlak syndrome 3''', also known as '''HPS3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: HPS3 Hermansky-Pudlak syndrome 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84343| accessdate = }}</ref>


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{{PBB_Summary
{{PBB Summary
| section_title =  
| 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.<ref name="entrez">{{cite web | title = Entrez Gene: HPS3 Hermansky-Pudlak syndrome 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84343| accessdate = }}</ref>
| 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.<ref name="entrez">{{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 = }}</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=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=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=Anikster Y, Huizing M, White J, ''et al.'' |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 |year= 2001 |pmid= 11455388 |doi= 10.1038/ng576 }}
*{{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 | author=Huizing M, Anikster Y, Fitzpatrick DL, ''et al.'' |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=  }}
*{{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 | author=Suzuki T, Li W, Zhang Q, ''et al.'' |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 | 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=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=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=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 | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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  | author=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 | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
*{{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 | author=Boissy RE, Richmond B, Huizing M, ''et al.'' |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=  }}
*{{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 | author=Helip-Wooley A, Westbroek W, Dorward H, ''et al.'' |title=Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. |journal=BMC Cell Biol. |volume=6 |issue=  |pages= 33 |year= 2006 |pmid= 16159387 |doi= 10.1186/1471-2121-6-33 }}
*{{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=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 3 protein is a protein that in humans is encoded by the HPS3 gene.[1][2]

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]

References

  1. ↑ Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR (Jul 2001). "Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico". Nat Genet. 28 (4): 376–80. doi:10.1038/ng576. PMID 11455388.
  2. ↑ 2.0 2.1 "Entrez Gene: HPS3 Hermansky-Pudlak syndrome 3".

External links

Further reading



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