HPS1

Identifiers

HPS1, HPS, BLOC3S1, biogenesis of lysosomal organelles complex 3 subunit 1

External IDs

MGI: 2177763 HomoloGene: 163 GeneCards: HPS1

Gene location (Human)

Chr.	Chromosome 10 (human)^[1]

Band	No data available	Start	98,416,198 bp^[1]
Band	No data available	End	98,446,947 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 19 (mouse)^[2]

Band	No data available	Start	42,755,105 bp^[2]
Band	No data available	End	42,779,978 bp^[2]

RNA expression pattern

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 • positive regulation of GTPase activity • membrane organization
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

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

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

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 2 3 GRCh38: Ensembl release 89: ENSG00000107521 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025188 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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. PMID 8541858. doi:10.1093/hmg/4.9.1665.
↑ 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.
1 2 "Entrez Gene: HPS1 Hermansky-Pudlak syndrome 1".

External links

GeneReviews/NCBI/NIH/UW entry on Hermansky-Pudlak Syndrome

Huizing M, Gahl WA (2003). "Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.". Curr. Mol. Med. 2 (5): 451–67. PMID 12125811. doi:10.2174/1566524023362357.
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. PMID 8896559. doi:10.1038/ng1196-300.
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. PMID 9182823. doi:10.1111/1523-1747.ep12294634.
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. PMC 1376951 . PMID 9497254. doi:10.1086/301757.
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. PMID 9579545. doi:10.1046/j.1523-1747.1998.00183.x.
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. PMID 10625677. doi:10.1074/jbc.275.2.1300.
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. PMID 10798370. doi:10.1007/s004390051053.
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. PMID 10971344. doi:10.1111/j.1365-2133.2000.03725.x.
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. PMID 11836498. doi:10.1038/ng835.
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. PMID 12442288. doi:10.1002/humu.9097.
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
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. PMID 12663659. doi:10.1074/jbc.M300090200.
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. PMID 12756248. doi:10.1074/jbc.M301294200.
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. PMC 166388 . PMID 12847290. doi:10.1073/pnas.1532040100.
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. PMID 16020891. doi:10.2169/internalmedicine.44.616.
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. PMID 17365864. doi:10.1080/13576500600936039.

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HPS1

References

External links

Further reading