hCNO

GENOMIC

Mapping

4p16.1. View the map and BAC contig (data from UCSC genome browser).

Structure

(assembly 7/03)
CNO/NM_018366: 1 exon (intronless), 1,546bp, Chr4: 6,782,383 - 6,783,786.

The figure below shows the structure of the CNO gene (data from UCSC genome browser).

Regulatory Element

Search the 5'UTR and 1kb upstream regions (human and mouse) by CONREAL with 80% Position Weight Matrices (PWMs) threshold (view results here).

TRANSCRIPT

RefSeq/ORF

CNO (NM_018366), 1,546bp, view ORF and the alignment to genomic.

Expression Pattern

Tissue specificity: ubiquitously expressed.

BMR: Bone marrow; SPL: Spleen; TMS: Thymus; BRN: Brain; SPC: Spinal cord; HRT: Heart; MSL: Skeletal muscle; LVR; Liver; PNC: Pancreas; PST: Prostate; KDN: Kidney; LNG: Lung. (data from GeneCards )

PROTEIN

Sequence

Cappuccino protein homolog (NP_060836): 217aa, ExPaSy NiceProt view of Swiss-Prot:Q9NUP1.

Ortholog

Species	Mouse	Rat	Fugu fish	Mosquito	Fruit fly
GeneView	Cno	LOC364183	132443	Q7PP24	CG14149
Protein	NP_598485 (215aa)	XP_344256 (215aa)	140268 (210aa)	XP_315539 (184aa)	NP_648414 (169aa)
Identities	77%/168aa	77%/169aa	39%/76aa	31%/42aa	27%/40aa

View multiple sequence alignment (PDF file) by ClustalW and GeneDoc.

Domain

(1) Domains predicted by SMART:
low complexity: 8 - 25

(2) Transmembrane domains predicted by SOSUI: none.

Motif/Site

(1) Predicted results by ScanProsite:
a) Casein kinase II phosphorylation site : [occurs frequently]
4 - 7: SfsD, 88 - 91: SleD, 94 - 97: TrvD, 133 - 136: SriD 157 - 160: TkaE.

b) N-myristoylation site : [occurs frequently]
23 - 28: GAawSG, 48 - 53: GAedGA, 146 - 151: GGrvAR.

c) Cell attachment sequence : [occurs frequently]
107 - 109: RGD.
,br> d) Protein kinase C phosphorylation site : [occurs frequently]
212 - 214: SeR.

(2) Predicted results of subprograms by PSORT II:
a) N-terminal signal peptide: none
b) KDEL ER retention motif in the C-terminus: none
c) ER Membrane Retention Signals: none
d) VAC possible vacuolar targeting motif: none
e) Actinin-type actin-binding motif: type 1: none; type 2: none
f) Prenylation motif: none
g) memYQRL transport motif from cell surface to Golgi: none
h) Tyrosines in the tail: none
i) Dileucine motif in the tail: none

3D Model

(1) ModBase: none.

(2) 3D models predicted by SPARKS (fold recognition) below. View the models by PDB2MGIF.

2D-PAGE

This protein does not exist in the current release of SWISS-2DPAGE.
Computed theoretical MW=23,351Da, pI=4.90 (NP_060836).

FUNCTION

Ontology

Involved in the development of lysosome-related organelles, such as melanosomes and platelet-dense granules.

Location

Cytoplasmic.

Interaction

Interacts with pallidin, muted, dysbindin, and snapin directly(Ciciotte, et al; Li, et al (2004); Starcevic, et al). The Cno protein is a subunit of the biogenesis of lysosome-related organelles complex 1 (BLOC-1), in which it interacts with the products of seven other HPS genes, mu, pa, sdy, rp, Snapap, Blos1, Blos2 (Ciciotte, et al; Falcon-Perez , et al; Li, et al (2003); Moriyama, et al; Starcevic, et al) (view diagram of BLOC-1 complex here).

Cno drosophila homolog CG14149 interaction information in CuraGen interaction database.

Pathway

The encoded protein may play a role in intracellular vesicular trafficking. Nguyen, et al found that the greatest percentages of immature melanosomes were observed in the BLOC-1 mouse mutants pa and cno, which suggests the maturation of melanosome is blocked between the multivesicular body stage and stage I (view diagram of melanosome blockage here). The cappuccino gene encodes a product involved in an AP-3-independent mechanism critical to the biogenesis of lysosome-related organelles (Gwynn, et al). (view diagram of BLOC-1 and AP-3 pathway here)

MUTATION

Allele or SNP

Ciciotte, et al performed mutation screening of the human CNO gene in 18 HPS patients with no defect in previously identified HPS genes by amplification of genomic DNA from cultured fibroblasts and sequencing. No defects were observed.

SNPs deposited in dbSNP.

Distribution

(none)

Effect