HPS1

HPS1
Identifiers
Aliases	HPS1,HPS, BLOC3S1, biogenesis of lysosomal organelles complex 3 subunit 1, HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
External IDs	OMIM:604982;MGI:2177763;HomoloGene:163;GeneCards:HPS1;OMA:HPS1 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) Band 10q24.2 Start 98,416,198bp End 98,446,935bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19 C3|19 36.56 cM Start 42,743,544bp End 42,768,417bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in granulocyte stromal cell of endometrium monocyte transverse colon canal of the cervix minor salivary glands right adrenal cortex right coronary artery mucosa of transverse colon right uterine tube Top expressed in seminal vesicula epithelium of lens lacrimal gland islet of Langerhans epithelium of stomach granulocyte belly cord gastrula salivary gland right kidney More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein dimerization activity guanyl-nucleotide exchange factor activity Cellular component integral component of plasma membrane BLOC-3 complex lysosome cytoplasm cytosol cytoplasmic vesicle Biological process lysosome organization response to stimulus visual perception melanosome assembly Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 3257 192236 Ensembl ENSG00000107521 ENSMUSG00000025188 UniProt Q92902 O08983 RefSeq (mRNA) NM_000195 NM_001311345 NM_182637 NM_182638 NM_182639 NM_001322476 NM_001322477 NM_001322478 NM_001322479 NM_001322480 NM_001322481 NM_001322482 NM_001322483 NM_001322484 NM_001322485 NM_001322487 NM_001322489 NM_001322490 NM_001322491 NM_001322492 NM_019424 NM_001346703 NM_001362410 RefSeq (protein) NP_000186 NP_001298274 NP_001309405 NP_001309406 NP_001309407 NP_001309408 NP_001309409 NP_001309410 NP_001309411 NP_001309412 NP_001309413 NP_001309414 NP_001309416 NP_001309418 NP_001309419 NP_001309420 NP_001309421 NP_872577 NP_001333632 NP_062297 NP_001349339 Location (UCSC) Chr 10: 98.42 – 98.45 Mb Chr 19: 42.74 – 42.77 Mb PubMedsearch
Wikidata
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Hermansky–Pudlak syndrome 1 proteinis aproteinthat in humans is encoded by theHPS1gene.

This gene encodes a protein that may play a role inorganellebiogenesisassociated 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.

External links

• GeneReviews/NCBI/NIH/UW entry on Hermansky–Pudlak syndrome

Further reading

• Huizing M, Gahl WA (2003). "Disorders of vesicles of lysosomal lineage: the Hermansky–Pudlak syndromes".Curr. Mol. Med.2(5): 451–67.doi:10.2174/1566524023362357.PMID12125811.
• Oh J, Bailin T, Fukai K, et al. (1996). "Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles".Nat. Genet.14(3): 300–6.doi:10.1038/ng1196-300.PMID8896559.S2CID25296741.
• Bailin T, Oh J, Feng GH, et al. (1997)."Organization and nucleotide sequence of the human Hermansky–Pudlak syndrome (HPS) gene".J. Invest. Dermatol.108(6): 923–7.doi:10.1111/1523-1747.ep12294634.PMID9182823.
• Oh J, Ho L, Ala-Mello S, et al. (1998)."Mutation analysis of patients with Hermansky–Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity".Am. J. Hum. Genet.62(3): 593–8.doi:10.1086/301757.PMC1376951.PMID9497254.
• Wildenberg SC, Fryer JP, Gardner JM, et al. (1998)."Identification of a novel transcript produced by the gene responsible for the Hermansky–Pudlak syndrome in Puerto Rico".J. Invest. Dermatol.110(5): 777–81.doi:10.1046/j.1523-1747.1998.00183.x.PMID9579545.
• Dell'Angelica EC, Aguilar RC, Wolins N, et al. (2000)."Molecular characterization of the protein encoded by the Hermansky–Pudlak syndrome type 1 gene".J. Biol. Chem.275(2): 1300–6.doi:10.1074/jbc.275.2.1300.PMID10625677.
• Huizing M, Anikster Y, Gahl WA (2000)."Characterization of a partial pseudogene homologous to the Hermansky–Pudlak syndrome gene HPS-1; relevance for mutation detection".Hum. Genet.106(3): 370–3.doi:10.1007/s004390051053(inactive 2024-09-18).PMID10798370.{{cite journal}}:CS1 maint: DOI inactive as of September 2024 (link)
• Horikawa T, Araki K, Fukai K, et al. (2000). "Heterozygous HPS1 mutations in a case of Hermansky–Pudlak syndrome with giant melanosomes".Br. J. Dermatol.143(3): 635–40.doi:10.1111/j.1365-2133.2000.03725.x.PMID10971344.S2CID9586360.
• Suzuki T, Li W, Zhang Q, et al. (2002). "Hermansky–Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene".Nat. Genet.30(3): 321–4.doi:10.1038/ng835.PMID11836498.S2CID2470873.
• Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA (2002)."Hermansky–Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases".Hum. Mutat.20(6): 482.doi:10.1002/humu.9097.PMID12442288.S2CID9313514.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003)."Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences".Proc. Natl. Acad. Sci. U.S.A.99(26): 16899–903.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC139241.PMID12477932.
• Chiang PW, Oiso N, Gautam R, et al. (2003)."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".J. Biol. Chem.278(22): 20332–7.doi:10.1074/jbc.M300090200.PMID12663659.
• Martina JA, Moriyama K, Bonifacino JS (2003)."BLOC-3, a protein complex containing the Hermansky–Pudlak syndrome gene products HPS1 and HPS4".J. Biol. Chem.278(31): 29376–84.doi:10.1074/jbc.M301294200.PMID12756248.
• Nazarian R, Falcón-Pérez JM, Dell'Angelica EC (2003)."Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4".Proc. Natl. Acad. Sci. U.S.A.100(15): 8770–5.Bibcode:2003PNAS..100.8770N.doi:10.1073/pnas.1532040100.PMC166388.PMID12847290.
• Kobashi Y, Yoshida K, Miyashita N, et al. (2005)."Hermansky–Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene".Intern. Med.44(6): 616–21.doi:10.2169/internalmedicine.44.616.PMID16020891.
• Huizing M, Parkes JM, Helip-Wooley A, et al. (2007)."Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky–Pudlak syndrome".Platelets.18(2): 150–7.doi:10.1080/13576500600936039.PMID17365864.S2CID32161968.