CNO (gene)

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)
End	6,717,664 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	36,905,994 bp
RNA expression pattern
	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
	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
	55330
	117197
	ENSG00000186222
	ENSMUSG00000060708
	Q9NUP1
	Q8VED2
	NM_018366
	NM_133724
	NP_060836
	NP_598485
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000186222 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000060708 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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. doi:10.1182/blood.V96.13.4227. PMID 11110696.
^ ^a ^b "Entrez Gene: CNO cappuccino homolog (mouse)".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000186222 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000060708 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12576321-5] 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.

[pmid11110696-6] 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. doi:10.1182/blood.V96.13.4227. PMID 11110696.

[entrez-7] "Entrez Gene: CNO cappuccino homolog (mouse)".

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