HPS1

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.[5][6][7]

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
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q24.2 Start 98,416,198 bp[1] End 98,446,947 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 C3|19 36.56 cM Start 42,755,105 bp[2] End 42,779,978 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 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: 42.76 – 42.78 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000107521 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025188 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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" (PDF). Hum Mol Genet. 4 (9): 1665–9. doi:10.1093/hmg/4.9.1665. PMID 8541858.
6. 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.
7. "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" (PDF). Platelets. 18 (2): 150–7. doi:10.1080/13576500600936039. PMID 17365864.