CNO (gene)

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BLOC1S4
Identifiers
Aliases BLOC1S4, BCAS4L, BLOS4, CNO, biogenesis of lysosomal organelles complex 1 subunit 4
External IDs MGI: 1929230 HomoloGene: 10155 GeneCards: BLOC1S4
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_018366

NM_133724

RefSeq (protein)

NP_060836

NP_598485.1
NP_598485

Location (UCSC) Chr 4: 6.72 – 6.72 Mb Chr 5: 36.75 – 36.75 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Protein cappuccino homolog is a protein that in humans is encoded by the CNO gene.[3][4][5]

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.[5]

Interactions[edit]

CNO (gene) has been shown to interact with BLOC1S2[6] and PLDN.[6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL (May 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:10.1182/blood-2003-01-0020. PMID 12576321. 
  4. ^ Gwynn B, Ciciotte SL, Hunter SJ, Washburn LL, Smith RS, Andersen SG, Swank RT, Dell'Angelica EC, Bonifacino JS, Eicher EM, Peters LL (Dec 2000). "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. 
  5. ^ a b "Entrez Gene: CNO cappuccino homolog (mouse)". 
  6. ^ a b Starcevic, Marta; Dell'Angelica Esteban C (Jul 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. United States. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. ISSN 0021-9258. PMID 15102850. 

External links[edit]

Further reading[edit]