mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for NPC1
Gene summary
Basic gene Info.Gene symbolNPC1
Gene nameNiemann-Pick disease, type C1
CytomapUCSC genome browser: 18q11.2
Type of geneprotein-coding
DescriptionNiemann-Pick C1 protein
Modification date20141222
dbXrefs MIM : 607623
Ensembl : ENSG00000141458
HPRD : 09622
Vega : OTTHUMG00000131873
ProteinUniProt: O15118
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NPC1
BioGPS: 4864
PathwayNCI Pathway Interaction Database: NPC1
Pathway Commons: NPC1
ContextiHOP: NPC1
ligand binding site mutation search in PubMed: NPC1
UCL Cancer Institute: NPC1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006486protein glycosylation10821832
GO:0030301cholesterol transport18772377
GO:0033344cholesterol efflux16141411
GO:0042632cholesterol homeostasis12719428
GO:0090150establishment of protein localization to membrane23360953

Ligand binding site mutations for NPC1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Protein structure related information for NPC1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for NPC1 from PDB

Differential gene expression and gene-gene network for NPC1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of NPC1 and the right PPI network was created from samples without mutations in the LBS of NPC1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for NPC1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0220756Niemann-Pick Disease, Type C58Biomarker, GeneticVariation
umls:C3179455NIEMANN-PICK DISEASE, TYPE C126Biomarker, GeneticVariation
umls:C0028754Obesity9Biomarker, GeneticVariation
umls:C0023890Liver Cirrhosis1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for NPC1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NPC1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of NPC1
Multiple alignments for O15118 in multiple species
LBSAA sequence# speciesSpecies
A201N--GQAPFTIT1Homo sapiens
A201PMLGGSPFQIN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A201N--GQAPFTII1Mus musculus
F108NLLNLFCELTC1Homo sapiens
F108NFNNLFCHFTC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F108NLMTLFCELTC1Mus musculus
F203-GQAPFTITPV1Homo sapiens
F203LGGSPFQINYK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F203-GQAPFTIIPV1Mus musculus
I205QAPFTITPVFS1Homo sapiens
I205GSPFQINYKY-1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I205QAPFTIIPVFS1Mus musculus
L111NLFCELTCSPR1Homo sapiens
L111NLFCHFTCAAD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L111TLFCELTCSPH1Mus musculus
L176KALGLLCGKDA1Homo sapiens
L176YAMDLIGG---1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L176KALGLLCGRDA1Mus musculus
L83RQLQTLKDNLQ1Homo sapiens
L83DQVVALRDNLQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L83QQLQTLKSNLQ1Mus musculus
L89KDNLQLPLQFL1Homo sapiens
L89RDNLQKAQPLI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L89KSNLQLPLQFL1Mus musculus
M193NWIEYMFNKDN2Homo sapiens, Mus musculus
M193QFLKFLGDAKP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N198MFNKDN--GQA2Homo sapiens, Mus musculus
N198LGDAKPMLGGS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N41DK-RYNCEYSG1Homo sapiens
N41NELPCPVPRSF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N41DK-RYNCKYSG1Mus musculus
N86QTLKDNLQLPL1Homo sapiens
N86VALRDNLQKAQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N86QTLKSNLQLPL1Mus musculus
P202--GQAPFTITP1Homo sapiens
P202MLGGSPFQINY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P202--GQAPFTIIP1Mus musculus
P90DNLQLPLQFLS1Homo sapiens
P90DNLQKAQPLIS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P90SNLQLPLQFLS1Mus musculus
Q200DN--GQAPFTI2Homo sapiens, Mus musculus
Q200KPMLGGSPFQI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q79CCDVRQLQTLK1Homo sapiens
Q79CCTKDQVVALR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q79CCDIQQLQTLK1Mus musculus
T112LFCELTCSPRQ1Homo sapiens
T112LFCHFTCAADQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T112LFCELTCSPHQ1Mus musculus
T82VRQLQTLKDNL1Homo sapiens
T82KDQVVALRDNL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T82IQQLQTLKSNL1Mus musculus
Y192TNWIEYMFNKD2Homo sapiens, Mus musculus
Y192SQFLKFLGDAK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)

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