CNO (gene)
From Wikipedia, the free encyclopedia
Cappuccino homolog (mouse)
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Identifiers | ||||||||
Symbol(s) | CNO; FLJ11230 | |||||||
External IDs | OMIM: 605695 MGI: 1929230 HomoloGene: 10155 | |||||||
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Orthologs | ||||||||
Human | Mouse | |||||||
Entrez | 55330 | 117197 | ||||||
Ensembl | ENSG00000186222 | ENSMUSG00000060708 | ||||||
Uniprot | Q9NUP1 | Q8VED2 | ||||||
Refseq | NM_018366 (mRNA) NP_060836 (protein) |
NM_133724 (mRNA) NP_598485 (protein) |
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Location | Chr 4: 6.77 - 6.77 Mb | Chr 5: 37.04 - 37.04 Mb | ||||||
Pubmed search | [1] | [2] |
Cappuccino homolog (mouse), also known as CNO, is a human gene.[1]
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking.[1]
[edit] References
[edit] Further reading
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi: . PMID 15489334.
- Starcevic M, Dell'Angelica EC (2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).". J. Biol. Chem. 279 (27): 28393-401. doi: . PMID 15102850.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi: . PMID 14702039.
- Li W, Zhang Q, Oiso N, et al. (2003). "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).". Nat. Genet. 35 (1): 84-9. doi: . PMID 12923531.
- Ciciotte SL, Gwynn B, Moriyama K, et al. (2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).". Blood 101 (11): 4402-7. doi: . PMID 12576321.
- 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: . PMID 12477932.
- Moriyama K, Bonifacino JS (2003). "Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.". Traffic 3 (9): 666-77. PMID 12191018.
- Gwynn B, Ciciotte SL, Hunter SJ, et al. (2001). "Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism.". Blood 96 (13): 4227-35. PMID 11110696.