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0NPC1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameNPC1
DescriptionNiemann-pick c1 protein precursor.
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0016021 integral to membrane (TAS)
0005764 lysosome (TAS)
0005624 membrane fraction (TAS)
0005478 intracellular transporter activity (TAS)
0015248 sterol transporter activity (TAS)
0004888 transmembrane receptor activity (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
The transmembrane protein.atched.s a receptor for the morphogene Sonic Hedgehog. In Drosophila melanogaster.his protein associates with the smoothened protein to transduce hedgehog signals.eading to the activation of wingless.ecapentaplegic and patched itself. It participates in cell interactions that establish pattern within the segment and imaginal disks during development. The mouse homolog may play a role in epidermal development. The human Niemann-Pick C1 protein.efects in which cause Niemann-Pick type II disease.s also a member of this family. This protein is involved in the intracellular trafficking of cholesterol.nd may play a role in vesicular trafficking in glia. process that may be crucial for maintaining the structural functional integrity of nerve terminals.
  IPR003392:Patched
The Niemann-Pick C type protein is an integral membrane protein.hich indicates that it is most likely involved in cholesterol transport or acts as some component of cholesterol homeostasis.The defective protein has been associated with Niemann-Pick disease which is described in humans as autosomal recessive lipidosis. It is characterized by the lysosomal accumulation of unestrified cholesterol.
  IPR004765:Niemann-Pick C type protein
IPR003392:Patched 
Evalue:-11.508638381958 
Location:363-1253
SequencesProtein: NPC1_HUMAN (1278 aa)
mRNA: NM_000271
Local Annotation
Synapse Ontology
endosome of the presynaptic compartment. A cellular structure that is involved in the transport of proteins in the neuron after the proteins are endocytosed from the outside to the inside of the cell.
sdb:0088 endosome  (Evidence:keywords)
the mechanism by which the restiong potential is held.
sdb:0288 maintain membrane potential  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 262 residues, 19365462-19366246Exon2: 56 residues, 19367316-19367479Exon3: 40 residues, 19368407-19368521Exon4: 79 residues, 19369430-19369662Exon5: 70 residues, 19370634-19370838Exon6: 45 residues, 19372503-19372633Exon7: 40 residues, 19373316-19373432Exon8: 65 residues, 19373772-19373963Exon9: 32 residues, 19374409-19374499Exon10: 49 residues, 19375029-19375170Exon11: 44 residues, 19375267-19375395Exon12: 40 residues, 19377416-19377531Exon13: 63 residues, 19378305-19378488Exon14: 65 residues, 19378921-19379111Exon15: 36 residues, 19381967-19382070Exon16: 35 residues, 19385588-19385689Exon17: 77 residues, 19388719-19388946Exon18: 125 residues, 19390204-19390575Exon19: 26 residues, 19391078-19391152Exon20: 85 residues, 19394192-19394442Exon21: 58 residues, 19395321-19395489Exon22: 60 residues, 19402784-19402960Exon23: 37 residues, 19406035-19406142Exon24: 43 residues, 19407413-19407536Exon25: 61 residues, 19420248-19420426Exon26: 2 residues, -Jump to NPC1_HUMAN  
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Loci Cluster (Details)Loci: 3059 19707003-19789025 ~-82K 17131(LAMA3)(+)Loci: 4333 19365462-19420426 ~-55K 17127(NPC1)(-)Link out to UCSC