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NPC1L1 (NPC1 like intracellular cholesterol transporter 1)

Identity

Alias_namesNPC1 (Niemann-Pick disease, type C1, gene)-like 1
NPC1-like 1
NPC1 like 1
Other aliasNPC11L1
HGNC (Hugo) NPC1L1
LocusID (NCBI) 29881
Atlas_Id 70917
Location 7p13  [Link to chromosome band 7p13]
Location_base_pair Starts at 44512536 and ends at 44541315 bp from pter ( according to hg38-Dec_2013)

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)NPC1L1   7898
Cards
Entrez_Gene (NCBI)NPC1L1  29881  NPC1 like intracellular cholesterol transporter 1
AliasesNPC11L1
GeneCards (Weizmann)NPC1L1
Ensembl hg19 (Hinxton)ENSG00000015520 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000015520 [Gene_View]  chr7:44512536-44541315 [Contig_View]  NPC1L1 [Vega]
ICGC DataPortalENSG00000015520
TCGA cBioPortalNPC1L1
AceView (NCBI)NPC1L1
Genatlas (Paris)NPC1L1
WikiGenes29881
SOURCE (Princeton)NPC1L1
Genetics Home Reference (NIH)NPC1L1
Genomic and cartography
GoldenPath hg38 (UCSC)NPC1L1  -     chr7:44512536-44541315 -  7p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPC1L1  -     7p13   [Description]    (hg19-Feb_2009)
EnsemblNPC1L1 - 7p13 [CytoView hg19]  NPC1L1 - 7p13 [CytoView hg38]
Mapping of homologs : NCBINPC1L1 [Mapview hg19]  NPC1L1 [Mapview hg38]
OMIM608010   
Gene and transcription
Genbank (Entrez)AF192522 AF192523 AY437865 AY515256 AY927603
RefSeq transcript (Entrez)NM_001101648 NM_001300967 NM_013389
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NPC1L1
Cluster EST : UnigeneHs.567486 [ NCBI ]
CGAP (NCI)Hs.567486
Alternative Splicing GalleryENSG00000015520
Gene ExpressionNPC1L1 [ NCBI-GEO ]   NPC1L1 [ EBI - ARRAY_EXPRESS ]   NPC1L1 [ SEEK ]   NPC1L1 [ MEM ]
Gene Expression Viewer (FireBrowse)NPC1L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29881
GTEX Portal (Tissue expression)NPC1L1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHC9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHC9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHC9
Splice isoforms : SwissVarQ9UHC9
PhosPhoSitePlusQ9UHC9
Domaine pattern : Prosite (Expaxy)SSD (PS50156)   
Domains : Interpro (EBI)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)NPC1L1
DMDM Disease mutations29881
Blocks (Seattle)NPC1L1
PDB (SRS)3QNT   
PDB (PDBSum)3QNT   
PDB (IMB)3QNT   
PDB (RSDB)3QNT   
Structural Biology KnowledgeBase3QNT   
SCOP (Structural Classification of Proteins)3QNT   
CATH (Classification of proteins structures)3QNT   
SuperfamilyQ9UHC9
Human Protein AtlasENSG00000015520
Peptide AtlasQ9UHC9
HPRD09725
IPIIPI00002984   IPI00641846   IPI00640209   IPI01013791   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHC9
IntAct (EBI)Q9UHC9
FunCoupENSG00000015520
BioGRIDNPC1L1
STRING (EMBL)NPC1L1
ZODIACNPC1L1
Ontologies - Pathways
QuickGOQ9UHC9
Ontology : AmiGOprotein binding  plasma membrane  cholesterol biosynthetic process  drug binding  sterol transport  integral component of membrane  apical plasma membrane  Rab GTPase binding  intestinal cholesterol absorption  cholesterol transport  cytoplasmic vesicle membrane  myosin V binding  brush border membrane  lipoprotein metabolic process  response to drug  
Ontology : EGO-EBIprotein binding  plasma membrane  cholesterol biosynthetic process  drug binding  sterol transport  integral component of membrane  apical plasma membrane  Rab GTPase binding  intestinal cholesterol absorption  cholesterol transport  cytoplasmic vesicle membrane  myosin V binding  brush border membrane  lipoprotein metabolic process  response to drug  
Pathways : KEGGFat digestion and absorption   
NDEx NetworkNPC1L1
Atlas of Cancer Signalling NetworkNPC1L1
Wikipedia pathwaysNPC1L1
Orthology - Evolution
OrthoDB29881
GeneTree (enSembl)ENSG00000015520
Phylogenetic Trees/Animal Genes : TreeFamNPC1L1
HOVERGENQ9UHC9
HOGENOMQ9UHC9
Homologs : HomoloGeneNPC1L1
Homology/Alignments : Family Browser (UCSC)NPC1L1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPC1L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPC1L1
dbVarNPC1L1
ClinVarNPC1L1
1000_GenomesNPC1L1 
Exome Variant ServerNPC1L1
ExAC (Exome Aggregation Consortium)NPC1L1 (select the gene name)
Genetic variants : HAPMAP29881
Genomic Variants (DGV)NPC1L1 [DGVbeta]
DECIPHERNPC1L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPC1L1 
Mutations
ICGC Data PortalNPC1L1 
TCGA Data PortalNPC1L1 
Broad Tumor PortalNPC1L1
OASIS PortalNPC1L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPC1L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNPC1L1
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
BioMutasearch NPC1L1
DgiDB (Drug Gene Interaction Database)NPC1L1
DoCM (Curated mutations)NPC1L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPC1L1 (select a term)
intoGenNPC1L1
Cancer3DNPC1L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608010   
Orphanet
MedgenNPC1L1
Genetic Testing Registry NPC1L1
NextProtQ9UHC9 [Medical]
TSGene29881
GENETestsNPC1L1
Target ValidationNPC1L1
Huge Navigator NPC1L1 [HugePedia]
snp3D : Map Gene to Disease29881
BioCentury BCIQNPC1L1
ClinGenNPC1L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29881
Chemical/Pharm GKB GenePA31699
Clinical trialNPC1L1
Miscellaneous
canSAR (ICR)NPC1L1 (select the gene name)
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPC1L1
EVEXNPC1L1
GoPubMedNPC1L1
iHOPNPC1L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:32:13 CEST 2017

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