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mutLBSgeneDB |
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| Gene summary for NPC1 |
 Gene summary |
| Basic gene Info. | Gene symbol | NPC1 |
| Gene name | Niemann-Pick disease, type C1 | |
| Synonyms | NPC | |
| Cytomap | UCSC genome browser: 18q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000271.4, | |
| Description | Niemann-Pick C1 protein | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 607623 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000141458 | ||
| HPRD : 09622 | ||
| Vega : OTTHUMG00000131873 | ||
| Protein | UniProt: O15118 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NPC1 | |
| BioGPS: 4864 | ||
| Pathway | NCI Pathway Interaction Database: NPC1 | |
| KEGG: NPC1 | ||
| REACTOME: NPC1 | ||
| Pathway Commons: NPC1 | ||
| Context | iHOP: NPC1 | |
| ligand binding site mutation search in PubMed: NPC1 | ||
| UCL Cancer Institute: NPC1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006486 | protein glycosylation | 10821832 | GO:0030301 | cholesterol transport | 18772377 | GO:0033344 | cholesterol efflux | 16141411 | GO:0042632 | cholesterol homeostasis | 12719428 | GO:0090150 | establishment of protein localization to membrane | 23360953 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | I205 | T206I | STAD | 1 |
| 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. |
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| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | I205 | T206I | -0.77541291 |
| (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 |
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| 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) |
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| Phenotype information for NPC1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0220756 | Niemann-Pick Disease, Type C | 58 | Biomarker, GeneticVariation |
| umls:C3179455 | NIEMANN-PICK DISEASE, TYPE C1 | 26 | Biomarker, GeneticVariation |
| umls:C0028754 | Obesity | 9 | Biomarker, GeneticVariation |
| umls:C0004134 | Ataxia | 2 | Biomarker |
| umls:C0004153 | Atherosclerosis | 1 | Therapeutic |
| umls:C0013362 | Dysarthria | 1 | Biomarker |
| umls:C0023890 | Liver Cirrhosis | 1 | Biomarker |
| umls:C0029089 | Ophthalmoplegia | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NPC1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CLR | CHOLESTEROL | 3gki | A | I205 | HC3 | 25-HYDROXYCHOLESTEROL | 3gkj | A | I205 |
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| Conservation information for LBS of NPC1 |
| Multiple alignments for O15118 in multiple species |
| LBS | AA sequence | # species | Species | A201 | N--GQAPFTIT | 1 | Homo sapiens | A201 | PMLGGSPFQIN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A201 | N--GQAPFTII | 1 | Mus musculus | F108 | NLLNLFCELTC | 1 | Homo sapiens | F108 | NFNNLFCHFTC | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F108 | NLMTLFCELTC | 1 | Mus musculus | F203 | -GQAPFTITPV | 1 | Homo sapiens | F203 | LGGSPFQINYK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F203 | -GQAPFTIIPV | 1 | Mus musculus | I205 | QAPFTITPVFS | 1 | Homo sapiens | I205 | GSPFQINYKY- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I205 | QAPFTIIPVFS | 1 | Mus musculus | L111 | NLFCELTCSPR | 1 | Homo sapiens | L111 | NLFCHFTCAAD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L111 | TLFCELTCSPH | 1 | Mus musculus | L176 | KALGLLCGKDA | 1 | Homo sapiens | L176 | YAMDLIGG--- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L176 | KALGLLCGRDA | 1 | Mus musculus | L83 | RQLQTLKDNLQ | 1 | Homo sapiens | L83 | DQVVALRDNLQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L83 | QQLQTLKSNLQ | 1 | Mus musculus | L89 | KDNLQLPLQFL | 1 | Homo sapiens | L89 | RDNLQKAQPLI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L89 | KSNLQLPLQFL | 1 | Mus musculus | M193 | NWIEYMFNKDN | 2 | Homo sapiens, Mus musculus | M193 | QFLKFLGDAKP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N198 | MFNKDN--GQA | 2 | Homo sapiens, Mus musculus | N198 | LGDAKPMLGGS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N41 | DK-RYNCEYSG | 1 | Homo sapiens | N41 | NELPCPVPRSF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N41 | DK-RYNCKYSG | 1 | Mus musculus | N86 | QTLKDNLQLPL | 1 | Homo sapiens | N86 | VALRDNLQKAQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N86 | QTLKSNLQLPL | 1 | Mus musculus | P202 | --GQAPFTITP | 1 | Homo sapiens | P202 | MLGGSPFQINY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P202 | --GQAPFTIIP | 1 | Mus musculus | P90 | DNLQLPLQFLS | 1 | Homo sapiens | P90 | DNLQKAQPLIS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P90 | SNLQLPLQFLS | 1 | Mus musculus | Q200 | DN--GQAPFTI | 2 | Homo sapiens, Mus musculus | Q200 | KPMLGGSPFQI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q79 | CCDVRQLQTLK | 1 | Homo sapiens | Q79 | CCTKDQVVALR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q79 | CCDIQQLQTLK | 1 | Mus musculus | T112 | LFCELTCSPRQ | 1 | Homo sapiens | T112 | LFCHFTCAADQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T112 | LFCELTCSPHQ | 1 | Mus musculus | T82 | VRQLQTLKDNL | 1 | Homo sapiens | T82 | KDQVVALRDNL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T82 | IQQLQTLKSNL | 1 | Mus musculus | Y192 | TNWIEYMFNKD | 2 | Homo sapiens, Mus musculus | Y192 | SQFLKFLGDAK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) |
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