4p16.1. View the map and BAC contig (data from UCSC genome browser).
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).
Search the 5'UTR and 1kb upstream regions (human and mouse) by CONREAL with 80% Position Weight Matrices (PWMs) threshold (view results here).
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 )
|Species||Mouse||Rat||Fugu fish||Mosquito||Fruit fly|
|Protein||NP_598485 (215aa)||XP_344256 (215aa)||140268 (210aa)||XP_315539 (184aa)||NP_648414 (169aa)|
View multiple sequence alignment (PDF file) by ClustalW and GeneDoc.
(1) Domains predicted by SMART:
low complexity: 8 - 25
(2) Transmembrane domains predicted by SOSUI: none.
(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
(1) ModBase: none.
(2) 3D models predicted by SPARKS (fold recognition) below. View the models by PDB2MGIF.
This protein does not exist in the current release of SWISS-2DPAGE.
Computed theoretical MW=23,351Da, pI=4.90 (NP_060836).
Involved in the development of lysosome-related organelles, such as melanosomes and platelet-dense granules.
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.
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)
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.