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NPC1 (Niemann-Pick disease, type C1)

Identity

Other namesNPC
HGNC (Hugo) NPC1
LocusID (NCBI) 4864
Location 18q11.2
Location_base_pair Starts at 21111463 and ends at 21166581 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)NPC1   7897
Cards
Entrez_Gene (NCBI)NPC1  4864  Niemann-Pick disease, type C1
GeneCards (Weizmann)NPC1
Ensembl hg19 (Hinxton)ENSG00000141458 [Gene_View]  chr18:21111463-21166581 [Contig_View]  NPC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000141458 [Gene_View]  chr18:21111463-21166581 [Contig_View]  NPC1 [Vega]
ICGC DataPortalENSG00000141458
cBioPortalNPC1
AceView (NCBI)NPC1
Genatlas (Paris)NPC1
WikiGenes4864
SOURCE (Princeton)NPC1
Genomic and cartography
GoldenPath hg19 (UCSC)NPC1  -     chr18:21111463-21166581 -  18q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NPC1  -     18q11.2   [Description]    (hg38-Dec_2013)
EnsemblNPC1 - 18q11.2 [CytoView hg19]  NPC1 - 18q11.2 [CytoView hg38]
Mapping of homologs : NCBINPC1 [Mapview hg19]  NPC1 [Mapview hg38]
OMIM257220   607623   
Gene and transcription
Genbank (Entrez)AB209048 AF002020 AI242474 AK293779 AK295715
RefSeq transcript (Entrez)NM_000271
RefSeq genomic (Entrez)AC_000150 NC_000018 NC_018929 NG_012795 NT_010966 NW_001838467 NW_004929410
Consensus coding sequences : CCDS (NCBI)NPC1
Cluster EST : UnigeneHs.715623 [ NCBI ]
CGAP (NCI)Hs.715623
Alternative Splicing GalleryENSG00000141458
Gene ExpressionNPC1 [ NCBI-GEO ]     NPC1 [ SEEK ]   NPC1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15118 (Uniprot)
NextProtO15118  [Medical]
With graphics : InterProO15118
Splice isoforms : SwissVarO15118 (Swissvar)
Domaine pattern : Prosite (Expaxy)SSD (PS50156)   
Domains : Interpro (EBI)NP_C_type    Patched    SSD   
Related proteins : CluSTrO15118
Domain families : Pfam (Sanger)Patched (PF02460)   
Domain families : Pfam (NCBI)pfam02460   
DMDM Disease mutations4864
Blocks (Seattle)O15118
PDB (SRS)3GKH    3GKI    3GKJ   
PDB (PDBSum)3GKH    3GKI    3GKJ   
PDB (IMB)3GKH    3GKI    3GKJ   
PDB (RSDB)3GKH    3GKI    3GKJ   
Human Protein AtlasENSG00000141458
Peptide AtlasO15118
HPRD09622
IPIIPI00005107   IPI00646796   IPI01010174   
Protein Interaction databases
DIP (DOE-UCLA)O15118
IntAct (EBI)O15118
FunCoupENSG00000141458
BioGRIDNPC1
IntegromeDBNPC1
STRING (EMBL)NPC1
Ontologies - Pathways
QuickGOO15118
Ontology : AmiGOreceptor activity  transmembrane signaling receptor activity  protein binding  extracellular region  nuclear envelope  lysosome  lysosomal membrane  endoplasmic reticulum  Golgi apparatus  integral component of plasma membrane  protein glycosylation  endocytosis  autophagy  lysosomal transport  signal transduction  signal transduction  adult walking behavior  hedgehog receptor activity  cholesterol metabolic process  bile acid metabolic process  sterol transporter activity  cholesterol binding  membrane  integral component of membrane  negative regulation of macroautophagy  cholesterol transport  membrane raft organization  late endosome membrane  cholesterol efflux  response to drug  cholesterol homeostasis  cholesterol homeostasis  membrane raft  response to cadmium ion  perinuclear region of cytoplasm  negative regulation of cell death  extracellular vesicular exosome  cellular response to steroid hormone stimulus  cellular response to low-density lipoprotein particle stimulus  establishment of protein localization to membrane  
Ontology : EGO-EBIreceptor activity  transmembrane signaling receptor activity  protein binding  extracellular region  nuclear envelope  lysosome  lysosomal membrane  endoplasmic reticulum  Golgi apparatus  integral component of plasma membrane  protein glycosylation  endocytosis  autophagy  lysosomal transport  signal transduction  signal transduction  adult walking behavior  hedgehog receptor activity  cholesterol metabolic process  bile acid metabolic process  sterol transporter activity  cholesterol binding  membrane  integral component of membrane  negative regulation of macroautophagy  cholesterol transport  membrane raft organization  late endosome membrane  cholesterol efflux  response to drug  cholesterol homeostasis  cholesterol homeostasis  membrane raft  response to cadmium ion  perinuclear region of cytoplasm  negative regulation of cell death  extracellular vesicular exosome  cellular response to steroid hormone stimulus  cellular response to low-density lipoprotein particle stimulus  establishment of protein localization to membrane  
Pathways : KEGGLysosome   
Protein Interaction DatabaseNPC1
DoCM (Curated mutations)NPC1
Wikipedia pathwaysNPC1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerNPC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPC1
dbVarNPC1
ClinVarNPC1
1000_GenomesNPC1 
Exome Variant ServerNPC1
SNP (GeneSNP Utah)NPC1
SNP : HGBaseNPC1
Genetic variants : HAPMAPNPC1
Genomic VariantsNPC1  NPC1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000141458 
Somatic Mutations in Cancer : COSMICNPC1 
CONAN: Copy Number AnalysisNPC1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)18:21111463-21166581
Mutations and Diseases : HGMDNPC1
OMIM257220    607623   
MedgenNPC1
NextProtO15118 [Medical]
GENETestsNPC1
Disease Genetic AssociationNPC1
Huge Navigator NPC1 [HugePedia]  NPC1 [HugeCancerGEM]
snp3D : Map Gene to Disease4864
DGIdb (Drug Gene Interaction db)NPC1
General knowledge
Homologs : HomoloGeneNPC1
Homology/Alignments : Family Browser (UCSC)NPC1
Phylogenetic Trees/Animal Genes : TreeFamNPC1
Chemical/Protein Interactions : CTD4864
Chemical/Pharm GKB GenePA31698
Clinical trialNPC1
Cancer Resource (Charite)ENSG00000141458
Other databases
Probes
Litterature
PubMed119 Pubmed reference(s) in Entrez
CoreMineNPC1
GoPubMedNPC1
iHOPNPC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:29:56 CET 2014

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