NPC1

From Wikipedia, the free encyclopedia

Niemann-Pick disease, type C1

Identifiers

External IDs

OMIM: 607623 MGI: 1097712 HomoloGene: 228

Gene ontology
Molecular Function:	• transporter activity • hedgehog receptor activity • sterol transporter activity
Cellular Component:	• nuclear envelope • lysosome • endoplasmic reticulum • integral to plasma membrane • membrane • perinuclear region of cytoplasm
Biological Process:	• endocytosis • lysosomal transport • bile acid metabolic process • cholesterol transport • cholesterol homeostasis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000271 (mRNA)
NP_000262 (protein)

NM_008720 (mRNA)
NP_032746 (protein)

Location

Chr 18: 19.37 - 19.42 Mb

Chr 18: 12.33 - 12.38 Mb

Pubmed search

[1]

[2]

NPC1 also known as Niemann-Pick disease, type C1 is a protein associated with Niemann-Pick disease.^[1]

NPC1 was identified as the gene that when mutated, results in Niemann-Pick C disease. NPC1 encodes a putative integral membrane protein containing motifs consistent with a role in intracellular transport of cholesterol to post-lysosomal destinations.^[1]

[edit] References

^ ^a ^b Entrez Gene: NPC1 Niemann-Pick disease, type C1.

[edit] Further reading

Vanier MT, Suzuki K (1998). "Recent advances in elucidating Niemann-Pick C disease.". Brain Pathol. 8 (1): 163–74. PMID 9458174.
Liscum L, Klansek JJ (1998). "Niemann-Pick disease type C.". Curr. Opin. Lipidol. 9 (2): 131–5. PMID 9559270.
Morris JA, Carstea ED (1999). "Niemann-Pick C disease: cholesterol handling gone awry.". Molecular medicine today 4 (12): 525–31. PMID 9866822.
Garver WS, Heidenreich RA (2003). "The Niemann-Pick C proteins and trafficking of cholesterol through the late endosomal/lysosomal system.". Curr. Mol. Med. 2 (5): 485–505. PMID 12125814.
Carstea ED, Polymeropoulos MH, Parker CC, et al. (1993). "Linkage of Niemann-Pick disease type C to human chromosome 18.". Proc. Natl. Acad. Sci. U.S.A. 90 (5): 2002–4. PMID 8446622.
Carstea ED, Morris JA, Coleman KG, et al. (1997). "Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.". Science 277 (5323): 228–31. PMID 9211849.
Greer WL, Riddell DC, Byers DM, et al. (1997). "Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C.". Am. J. Hum. Genet. 61 (1): 139–42. PMID 9245994.
Greer WL, Riddell DC, Gillan TL, et al. (1998). "The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.". Am. J. Hum. Genet. 63 (1): 52–4. PMID 9634529.
Watari H, Blanchette-Mackie EJ, Dwyer NK, et al. (1999). "Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization.". Proc. Natl. Acad. Sci. U.S.A. 96 (3): 805–10. PMID 9927649.
Patel SC, Suresh S, Kumar U, et al. (1999). "Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease.". Proc. Natl. Acad. Sci. U.S.A. 96 (4): 1657–62. PMID 9990080.
Morris JA, Zhang D, Coleman KG, et al. (1999). "The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene.". Biochem. Biophys. Res. Commun. 261 (2): 493–8. doi:10.1006/bbrc.1999.1070. PMID 10425213.
Yamamoto T, Nanba E, Ninomiya H, et al. (1999). "NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.". Hum. Genet. 105 (1-2): 10–6. PMID 10480349.
Greer WL, Dobson MJ, Girouard GS, et al. (1999). "Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.". Am. J. Hum. Genet. 65 (5): 1252–60. PMID 10521290.
Millat G, Marçais C, Rafi MA, et al. (1999). "Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.". Am. J. Hum. Genet. 65 (5): 1321–9. PMID 10521297.
Davies JP, Ioannou YA (2000). "Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein.". J. Biol. Chem. 275 (32): 24367–74. doi:10.1074/jbc.M002184200. PMID 10821832.
Millat G, Marçais C, Tomasetto C, et al. (2001). "Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.". Am. J. Hum. Genet. 68 (6): 1373–85. PMID 11333381.
Sun X, Marks DL, Park WD, et al. (2001). "Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.". Am. J. Hum. Genet. 68 (6): 1361–72. PMID 11349231.