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NUDT19 NUDT19 SLC9A3R2 SLC9A3R2 SLC12A5 SLC12A5 NPC1L1 NPC1L1 NPC2 NPC2 SLC12A7 SLC12A7 PPARA PPARA TSPAN16 TSPAN16 NPC1 NPC1 STARD3NL STARD3NL STARD3 STARD3
"NPC2" - Niemann-Pick disease, type C2 in Homo sapiens
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NPC2Niemann-Pick disease, type C2; Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular ’tag team duo’ (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pock [...] (151 aa)    
Predicted Functional Partners:
NUDT19
nudix (nucleoside diphosphate linked moiety X)-type motif 19; Coenzyme A diphosphatase that mediates the hydrolysis of a wide range of CoA esters, including choloyl-CoA and branched- chain fatty-acyl-CoA esters. At low substrate concentrations medium and long-chain fatty-acyl-CoA esters are the primary substrates (By similarity) (375 aa)
        score_image       0.992
NPC1
Niemann-Pick disease, type C1; Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular ’tag team duo’ (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pock [...] (1278 aa)
          score_image score_image   0.986
SLC9A3R2
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May also act as scaffold protein in the nucleus (337 aa)
        score_image       0.926
STARD3
StAR-related lipid transfer (START) domain containing 3; Binds and transports cholesterol. Promotes steroidogenesis in placenta and brain (445 aa)
            score_image   0.864
STARD3NL
STARD3 N-terminal like (234 aa)
            score_image   0.862
PPARA
peroxisome proliferator-activated receptor alpha; Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl- 2-oleoyl-sn-glycerol-3-phosphocholine (16-0/18-1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regulates satiety (By similarity). Receptor for peroxisome proliferators such as hypolipidemic drugs and fatty acids. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the ACOX1 and P450 genes. Transactivation activity requires heterodimerizati [...] (468 aa)
            score_image   0.826
SLC12A5
solute carrier family 12 (potassium/chloride transporter), member 5; Mediates electroneutral potassium-chloride cotransport in mature neurons. Transport occurs under isotonic conditions, but is activated 20-fold by cell swelling. Important for Cl(-) homeostasis in neurons (1139 aa)
            score_image   0.788
TSPAN16
tetraspanin 16 (245 aa)
            score_image   0.752
NPC1L1
NPC1-like 1; Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorbtion. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down- regulates its expression and secretion by inhibiting its maturation and accelerating [...] (1359 aa)
            score_image   0.745
SLC12A7
solute carrier family 12 (potassium/chloride transporters), member 7; Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May mediate K(+) uptake into Deiters’ cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti. May be required for basolateral Cl(-) extrusion in the kidney and contribute to renal acidification (By similarity) (1083 aa)
            score_image   0.667
Your Current Organism:
Homo sapiens
NCBI taxonomy Id: 9606
Other names: H. sapiens, Homo, Homo sapiens, human, man
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