Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NPC1 (NPC intracellular cholesterol transporter 1)

Identity

Alias (NCBI)NPC
POGZ
SLC65A1
HGNC (Hugo) NPC1
HGNC Alias symbSLC65A1
HGNC Previous nameNiemann-Pick disease, type C1
LocusID (NCBI) 4864
Atlas_Id 54509
Location 18q11.2  [Link to chromosome band 18q11]
Location_base_pair Starts at 23531442 and ends at 23586506 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HIST1H2BE (6p22.2) / NPC1 (18q11.2)NPC1 (18q11.2) / FGD4 (12p11.21)NPC1 (18q11.2) / GREB1L (18q11.1)
NPC1 (18q11.2) / NPC1 (18q11.2)NPC1 (18q11.2) / OSBPL1A (18q11.2)NPC1 18q11.2 / FGD4 12p11.21
NPC1 18q11.2 / OSBPL1A 18q11.2

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    NPC intracellular cholesterol transporter 1
AliasesNPC; POGZ; SLC65A1
GeneCards (Weizmann)NPC1
Ensembl hg19 (Hinxton)ENSG00000141458 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141458 [Gene_View]  ENSG00000141458 [Sequence]  chr18:23531442-23586506 [Contig_View]  NPC1 [Vega]
ICGC DataPortalENSG00000141458
TCGA cBioPortalNPC1
AceView (NCBI)NPC1
Genatlas (Paris)NPC1
SOURCE (Princeton)NPC1
Genetics Home Reference (NIH)NPC1
Genomic and cartography
GoldenPath hg38 (UCSC)NPC1  -     chr18:23531442-23586506 -  18q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPC1  -     18q11.2   [Description]    (hg19-Feb_2009)
GoldenPathNPC1 - 18q11.2 [CytoView hg19]  NPC1 - 18q11.2 [CytoView hg38]
ImmunoBaseENSG00000141458
Genome Data Viewer NCBINPC1 [Mapview hg19]  
OMIM257220   607623   
Gene and transcription
Genbank (Entrez)AB209048 AB971140 AF002020 AI242474 AK293779
RefSeq transcript (Entrez)NM_000271
Consensus coding sequences : CCDS (NCBI)NPC1
Gene ExpressionNPC1 [ NCBI-GEO ]   NPC1 [ EBI - ARRAY_EXPRESS ]   NPC1 [ SEEK ]   NPC1 [ MEM ]
Gene Expression Viewer (FireBrowse)NPC1 [ Firebrowse - Broad ]
GenevisibleExpression of NPC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4864
GTEX Portal (Tissue expression)NPC1
Human Protein AtlasENSG00000141458-NPC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15118   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15118  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15118
PhosPhoSitePlusO15118
Domaine pattern : Prosite (Expaxy)SSD (PS50156)   
Domains : Interpro (EBI)NPC1-like    NPC1_N    Ptc/Disp    SSD   
Domain families : Pfam (Sanger)NPC1_N (PF16414)    Patched (PF02460)    Sterol-sensing (PF12349)   
Domain families : Pfam (NCBI)pfam16414    pfam02460    pfam12349   
Conserved Domain (NCBI)NPC1
PDB (RSDB)3GKH    3GKI    3GKJ    3JD8    5F18    5F1B    5HNS    5JNX    5KWY    5U73    5U74    6UOX    6W5R    6W5S    6W5T    6W5U    6W5V   
PDB Europe3GKH    3GKI    3GKJ    3JD8    5F18    5F1B    5HNS    5JNX    5KWY    5U73    5U74    6UOX    6W5R    6W5S    6W5T    6W5U    6W5V   
PDB (PDBSum)3GKH    3GKI    3GKJ    3JD8    5F18    5F1B    5HNS    5JNX    5KWY    5U73    5U74    6UOX    6W5R    6W5S    6W5T    6W5U    6W5V   
PDB (IMB)3GKH    3GKI    3GKJ    3JD8    5F18    5F1B    5HNS    5JNX    5KWY    5U73    5U74    6UOX    6W5R    6W5S    6W5T    6W5U    6W5V   
Structural Biology KnowledgeBase3GKH    3GKI    3GKJ    3JD8    5F18    5F1B    5HNS    5JNX    5KWY    5U73    5U74    6UOX    6W5R    6W5S    6W5T    6W5U    6W5V   
SCOP (Structural Classification of Proteins)3GKH    3GKI    3GKJ    3JD8    5F18    5F1B    5HNS    5JNX    5KWY    5U73    5U74    6UOX    6W5R    6W5S    6W5T    6W5U    6W5V   
CATH (Classification of proteins structures)3GKH    3GKI    3GKJ    3JD8    5F18    5F1B    5HNS    5JNX    5KWY    5U73    5U74    6UOX    6W5R    6W5S    6W5T    6W5U    6W5V   
SuperfamilyO15118
AlphaFold pdb e-kbO15118   
Human Protein Atlas [tissue]ENSG00000141458-NPC1 [tissue]
HPRD09622
Protein Interaction databases
DIP (DOE-UCLA)O15118
IntAct (EBI)O15118
BioGRIDNPC1
STRING (EMBL)NPC1
ZODIACNPC1
Ontologies - Pathways
QuickGOO15118
Ontology : AmiGOvirus receptor activity  transmembrane signaling receptor activity  protein binding  extracellular region  nuclear envelope  lysosome  lysosomal membrane  lysosomal membrane  endoplasmic reticulum  Golgi apparatus  integral component of plasma membrane  protein glycosylation  endocytosis  autophagy  lysosomal transport  adult walking behavior  cholesterol metabolic process  bile acid metabolic process  gene expression  sterol transporter activity  cholesterol binding  membrane  integral component of membrane  negative regulation of macroautophagy  cholesterol transport  membrane raft organization  late endosome membrane  intracellular cholesterol transport  cholesterol efflux  low-density lipoprotein particle clearance  signaling receptor activity  response to drug  cholesterol homeostasis  cholesterol homeostasis  cholesterol homeostasis  membrane raft  response to cadmium ion  viral entry into host cell  perinuclear region of cytoplasm  negative regulation of cell death  extracellular exosome  cellular response to steroid hormone stimulus  cellular response to low-density lipoprotein particle stimulus  establishment of protein localization to membrane  integral component of lysosomal membrane  
Ontology : EGO-EBIvirus receptor activity  transmembrane signaling receptor activity  protein binding  extracellular region  nuclear envelope  lysosome  lysosomal membrane  lysosomal membrane  endoplasmic reticulum  Golgi apparatus  integral component of plasma membrane  protein glycosylation  endocytosis  autophagy  lysosomal transport  adult walking behavior  cholesterol metabolic process  bile acid metabolic process  gene expression  sterol transporter activity  cholesterol binding  membrane  integral component of membrane  negative regulation of macroautophagy  cholesterol transport  membrane raft organization  late endosome membrane  intracellular cholesterol transport  cholesterol efflux  low-density lipoprotein particle clearance  signaling receptor activity  response to drug  cholesterol homeostasis  cholesterol homeostasis  cholesterol homeostasis  membrane raft  response to cadmium ion  viral entry into host cell  perinuclear region of cytoplasm  negative regulation of cell death  extracellular exosome  cellular response to steroid hormone stimulus  cellular response to low-density lipoprotein particle stimulus  establishment of protein localization to membrane  integral component of lysosomal membrane  
Pathways : KEGGLysosome   
NDEx NetworkNPC1
Atlas of Cancer Signalling NetworkNPC1
Wikipedia pathwaysNPC1
Orthology - Evolution
OrthoDB4864
GeneTree (enSembl)ENSG00000141458
Phylogenetic Trees/Animal Genes : TreeFamNPC1
Homologs : HomoloGeneNPC1
Homology/Alignments : Family Browser (UCSC)NPC1
Gene fusions - Rearrangements
Fusion : MitelmanNPC1/FGD4 [18q11.2/12p11.21]  
Fusion : MitelmanNPC1/GREB1L [18q11.2/18q11.1]  
Fusion : MitelmanNPC1/OSBPL1A [18q11.2/18q11.2]  
Fusion : QuiverNPC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPC1
dbVarNPC1
ClinVarNPC1
MonarchNPC1
1000_GenomesNPC1 
Exome Variant ServerNPC1
GNOMAD BrowserENSG00000141458
Varsome BrowserNPC1
ACMGNPC1 variants
VarityO15118
Genomic Variants (DGV)NPC1 [DGVbeta]
DECIPHERNPC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPC1 
Mutations
ICGC Data PortalNPC1 
TCGA Data PortalNPC1 
Broad Tumor PortalNPC1
OASIS PortalNPC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNPC1
Mutations and Diseases : HGMDNPC1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaNPC1
DgiDB (Drug Gene Interaction Database)NPC1
DoCM (Curated mutations)NPC1
CIViC (Clinical Interpretations of Variants in Cancer)NPC1
Cancer3DNPC1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM257220    607623   
Orphanet18801    18803    18802    18805    18804   
DisGeNETNPC1
MedgenNPC1
Genetic Testing Registry NPC1
NextProtO15118 [Medical]
GENETestsNPC1
Target ValidationNPC1
Huge Navigator NPC1 [HugePedia]
ClinGenNPC1
Clinical trials, drugs, therapy
MyCancerGenomeNPC1
Protein Interactions : CTDNPC1
Pharm GKB GenePA31698
PharosO15118
Clinical trialNPC1
Miscellaneous
canSAR (ICR)NPC1
HarmonizomeNPC1
DataMed IndexNPC1
Probes
Litterature
PubMed195 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNPC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:23:07 CEST 2021

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