Gene table of NPC1 : NPC intracellular cholesterol transporter 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with NPC1	OMIM link	Number of associated genes	genes
257220	NIEMANN-PICK DISEASE, TYPE C1	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	NPC1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Lysosome	hsa04142	5.78

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
lipid transporter activity	GO:0005319	5.03
sterol binding	GO:0032934	5.98
signaling receptor activity	GO:0038023	2.49
cholesterol binding	GO:0015485	6.1
protein binding	GO:0005515	0.46
alcohol binding	GO:0043178	5.53
transporter activity	GO:0005215	2.57
virus receptor activity	GO:0001618	5.49
lipid binding	GO:0008289	3.26
small molecule binding	GO:0036094	1.89
molecular transducer activity	GO:0060089	2.32
transmembrane signaling receptor activity	GO:0004888	2.57
substrate-specific transporter activity	GO:0022892	2.72
receptor activity	GO:0004872	2.32
signal transducer activity	GO:0004871	2.28
organic cyclic compound binding	GO:0097159	1.05
steroid binding	GO:0005496	5.24
sterol transporter activity	GO:0015248	6.85
transmembrane receptor activity	GO:0099600	2.53
binding	GO:0005488	0.18