HPS1

Protein-coding gene in humans
HPS1
Identifiers
AliasesHPS1, HPS, BLOC3S1, biogenesis of lysosomal organelles complex 3 subunit 1, HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
External IDsOMIM: 604982 MGI: 2177763 HomoloGene: 163 GeneCards: HPS1
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for HPS1
Genomic location for HPS1
Band10q24.2Start98,416,198 bp[1]
End98,446,935 bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for HPS1
Genomic location for HPS1
Band19 C3|19 36.56 cMStart42,743,544 bp[2]
End42,768,417 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • stromal cell of endometrium

  • monocyte

  • transverse colon

  • canal of the cervix

  • minor salivary glands

  • right coronary artery

  • right uterine tube

  • gastric mucosa

  • left adrenal gland

  • body of stomach
Top expressed in
  • seminal vesicula

  • lacrimal gland

  • islet of Langerhans

  • epithelium of stomach

  • belly cord

  • salivary gland

  • adrenal gland

  • iris

  • calvaria

  • retinal pigment epithelium
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
SpeciesHumanMouse
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 MbChr 19: 42.74 – 42.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000107521 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. S2CID 25296741.
  • 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 (inactive 2024-02-07). PMID 10798370.{{cite journal}}: CS1 maint: DOI inactive as of February 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. PMID 10971344. S2CID 9586360.
  • 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. S2CID 2470873.
  • 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. S2CID 9313514.
  • 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. 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. Bibcode:2003PNAS..100.8770N. 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. S2CID 32161968.
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