CNO (gene)

Protein cappuccino homolog is a protein that in humans is encoded by the CNO gene.^[5][6][7]

BLOC1S4
Identifiers
Aliases	BLOC1S4, BCAS4L, BLOS4, CNO, biogenesis of lysosomal organelles complex 1 subunit 4
External IDs	OMIM: 605695; MGI: 1929230; HomoloGene: 10155; GeneCards: BLOC1S4; OMA:BLOC1S4 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4p16.1 Start 6,716,174 bp[1] End 6,717,664 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 B3 Start 36,904,722 bp[2] End 36,905,994 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum granulocyte gonad olfactory zone of nasal mucosa mucosa of transverse colon monocyte cartilage tissue left adrenal gland left adrenal cortex right adrenal gland Top expressed in fossa ciliary body retinal pigment epithelium condyle conjunctival fornix interventricular septum iris Epithelium of choroid plexus epithelium of lens facial motor nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm cytosol BLOC-1 complex axon cytoplasm Biological process anterograde axonal transport melanosome organization intracellular transport anterograde synaptic vesicle transport neuron projection development platelet aggregation neuromuscular process controlling balance Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55330 117197 Ensembl ENSG00000186222 ENSMUSG00000060708 UniProt Q9NUP1 Q8VED2 RefSeq (mRNA) NM_018366 NM_133724 RefSeq (protein) NP_060836 NP_598485 Location (UCSC) Chr 4: 6.72 – 6.72 Mb Chr 5: 36.9 – 36.91 Mb PubMed search [3] [4]
Wikidata
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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.^[7]