HPS1

HPS1
Identifiers
Aliases	HPS1, HPS, BLOC3S1, biogenesis of lysosomal organelles complex 3 subunit 1
External IDs	MGI: 2177763 HomoloGene: 163 GeneCards: HPS1
Gene ontology Molecular function • protein binding • protein dimerization activity • guanyl-nucleotide exchange factor activity Cellular component • cytoplasmic, membrane-bounded vesicle • integral component of plasma membrane • BLOC-3 complex • lysosome • cytoplasm Biological process • lysosome organization • response to stimulus • visual perception • melanosome assembly • positive regulation of GTPase activity Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
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
RefSeq (protein)	NP_000186.2 NP_872577.1 NP_001309405.1 NP_001309406.1 NP_001309407.1 NP_001309408.1	NP_062297.1
Location (UCSC)	Chr 10: 98.42 – 98.45 Mb	Chr 19: 42.76 – 42.78 Mb
PubMed search	[1]	[2]
Wikidata

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Hermansky-Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.^[3][4][5]

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.^[5]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. 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.
5. "Entrez Gene: HPS1 Hermansky-Pudlak syndrome 1".

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. PMID 12125811.
• 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. PMID 8896559.
• 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. PMID 9182823.
• 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. PMC 1376951. PMID 9497254.
• 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. PMID 9579545.
• 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. PMID 10625677.
• 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. PMID 10798370.
• 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. PMID 10971344.
• 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. PMID 11836498.
• 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. PMID 12442288.
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• 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. PMID 12663659.
• 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. PMID 12756248.
• 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. doi:10.1073/pnas.1532040100. PMC 166388. PMID 12847290.
• 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. PMID 16020891.
• 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. PMID 17365864.