This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein ... See more...

Aliases for NPC1 Gene

Aliases for NPC1 Gene

  • NPC Intracellular Cholesterol Transporter 1 2 3 4 5
  • Niemann-Pick C1 Protein 3 4
  • SLC65A1 2 3
  • Niemann-Pick Disease, Type C1 2
  • Truncated Niemann-Pick C1 3
  • POGZ 3
  • NPC1 5
  • NPC 3

External Ids for NPC1 Gene

Previous GeneCards Identifiers for NPC1 Gene

  • GC18M021004
  • GC18M020843
  • GC18M019363
  • GC18M019365
  • GC18M021111
  • GC18M017967

Summaries for NPC1 Gene

Entrez Gene Summary for NPC1 Gene

  • This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]

GeneCards Summary for NPC1 Gene

NPC1 (NPC Intracellular Cholesterol Transporter 1) is a Protein Coding gene. Diseases associated with NPC1 include Niemann-Pick Disease, Type C1 and Headache. Among its related pathways are Lipoprotein metabolism and Lysosome. Gene Ontology (GO) annotations related to this gene include cholesterol binding. An important paralog of this gene is NPC1L1.

UniProtKB/Swiss-Prot Summary for NPC1 Gene

  • Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:9211849, PubMed:9927649, PubMed:10821832, PubMed:18772377, PubMed:27238017, PubMed:12554680). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:9211849, PubMed:9927649, PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:28784760). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable).
  • (Microbial infection) Acts as an endosomal entry receptor for ebolavirus.

Gene Wiki entry for NPC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPC1 Gene

Genomics for NPC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NPC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J023582 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 642.1 +1.5 1466 5.9 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 REST TFE3 SOX13 ZNF692 NPC1 RMC1 ANKRD29 CABLES1 TMEM241 CABYR ENSG00000199366 lnc-RMC1-4
GH18J023502 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 28.2 +82.7 82680 3.2 SP1 GATAD2A HNRNPL PRDM10 ZNF629 TFE3 IKZF1 POLR2A ZNF692 BACH1 RMC1 lnc-NPC1-8 NPC1 TMEM241 MN297534
GH18J023539 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 40.2 +45.2 45205 3.1 IKZF1 JUND IKZF2 DPF2 HDAC1 SOX6 EP300 NONO GTF2E2 ZNF766 lnc-ANKRD29-2 NPC1 RMC1 ANKRD29 FJ601684-198
GH18J023590 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 38.2 -7.7 -7659 6.9 CEBPB BRCA1 JUN RCOR1 GTF2F1 JUND FOSL1 USF2 EP300 FOSL2 NPC1 ANKRD29 RMC1 piR-41306-121 lnc-RMC1-4
GH18J023567 Enhancer 1 ENCODE dbSUPER 29.6 +14.7 14675 8 GATAD2A TFE3 RCOR2 JUND PRDM1 RBFOX2 RXRB IRF2 CEBPA FOXK2 NPC1 RMC1 LAMA3 ANKRD29 TMEM241 piR-33422-184 lnc-ANKRD29-1 FJ601684-198
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPC1

Top Transcription factor binding sites by QIAGEN in the NPC1 gene promoter:
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • STAT3

Genomic Locations for NPC1 Gene

Genomic Locations for NPC1 Gene
chr18:23,506,184-23,586,506
(GRCh38/hg38)
Size:
80,323 bases
Orientation:
Minus strand
chr18:21,086,148-21,166,862
(GRCh37/hg19)
Size:
80,715 bases
Orientation:
Minus strand

Genomic View for NPC1 Gene

Genes around NPC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPC1 Gene

Proteins for NPC1 Gene

  • Protein details for NPC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15118-NPC1_HUMAN
    Recommended name:
    NPC intracellular cholesterol transporter 1
    Protein Accession:
    O15118
    Secondary Accessions:
    • B4DET3
    • Q9P130

    Protein attributes for NPC1 Gene

    Size:
    1278 amino acids
    Molecular mass:
    142167 Da
    Quaternary structure:
    • Interacts (via the second lumenal domain) with NPC2 (PubMed:18772377, PubMed:27238017, PubMed:27551080). Interacts with TMEM97 (PubMed:19583955). Interacts with TIM1 (PubMed:25855742).
    • (Microbial infection) Interacts with ebolavirus glycoprotein.

    Three dimensional structures from OCA and Proteopedia for NPC1 Gene

    Alternative splice isoforms for NPC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPC1 Gene

Post-translational modifications for NPC1 Gene

  • N-glycosylated.
  • Glycosylation at Asn70, Asn122, Asn135, Asn158, Asn185, Asn452, Asn459, Asn222, Asn478, Asn598, Asn524, Asn557, Asn572, Asn916, Asn931, Asn961, Asn968, Asn1064, and Asn1072
  • Ubiquitination at Lys84 and Lys585
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

No data available for DME Specific Peptides for NPC1 Gene

Domains & Families for NPC1 Gene

Gene Families for NPC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for NPC1 Gene

InterPro:
Blocks:
  • Patched family
ProtoNet:

Suggested Antigen Peptide Sequences for NPC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51802, highly similar to Niemann-Pick C1 protein (B4DET3_HUMAN)
  • Niemann-Pick C1 protein (NPC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15118

UniProtKB/Swiss-Prot:

NPC1_HUMAN :
  • A cysteine-rich N-terminal domain and a C-terminal domain containing a di-leucine motif necessary for lysosomal targeting are critical for mobilization of cholesterol from lysosomes.
  • Belongs to the patched family.
Domain:
  • A cysteine-rich N-terminal domain and a C-terminal domain containing a di-leucine motif necessary for lysosomal targeting are critical for mobilization of cholesterol from lysosomes.
Family:
  • Belongs to the patched family.
genes like me logo Genes that share domains with NPC1: view

Function for NPC1 Gene

Molecular function for NPC1 Gene

UniProtKB/Swiss-Prot Function:
Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:9211849, PubMed:9927649, PubMed:10821832, PubMed:18772377, PubMed:27238017, PubMed:12554680). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:9211849, PubMed:9927649, PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:28784760). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as an endosomal entry receptor for ebolavirus.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesterol(in) = cholesterol(out); Xref=Rhea:RHEA:39747, ChEBI:CHEBI:16113; Evidence={ECO:0000269|PubMed:18772377};.
GENATLAS Biochemistry:
glycoprotein regulator of intracellular cholesterol trafficking,predominantly expressed in perisynaptic astrocytic glial processes,homolog to the mediators of cholesterol homeostasis and to the TM region of Drosophila patched

Phenotypes From GWAS Catalog for NPC1 Gene

Gene Ontology (GO) - Molecular Function for NPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0004888 transmembrane signaling receptor activity TAS 10521290
GO:0005319 lipid transporter activity IEA --
GO:0005515 protein binding IPI 16757520
GO:0015248 sterol transporter activity TAS 9927649
genes like me logo Genes that share ontologies with NPC1: view
genes like me logo Genes that share phenotypes with NPC1: view

Human Phenotype Ontology for NPC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NPC1 Gene

MGI Knock Outs for NPC1:
  • Npc1 Npc1<tm1.2Apl>
  • Npc1 Npc1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NPC1 Gene

Localization for NPC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPC1 Gene

Late endosome membrane. Multi-pass membrane protein. Lysosome membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPC1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
lysosome 5
extracellular 4
endosome 4
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,ISS --
GO:0005635 nuclear envelope IEA,IDA 12554680
GO:0005764 lysosome TAS,ISS --
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with NPC1: view

Pathways & Interactions for NPC1 Gene

PathCards logo

SuperPathways for NPC1 Gene

SuperPathway Contained pathways
1 Lipoprotein metabolism
2 Metabolism
3 Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
.01
-
4 Statin Pathway
5 Lysosome
genes like me logo Genes that share pathways with NPC1: view

Pathways by source for NPC1 Gene

2 KEGG pathways for NPC1 Gene
2 GeneGo (Thomson Reuters) pathways for NPC1 Gene
  • Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
  • Cholesterol and Sphingolipids transport / Generic schema (normal and CF)

Gene Ontology (GO) - Biological Process for NPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA,IDA 10821832
GO:0006629 lipid metabolic process IEA --
GO:0006869 lipid transport IEA --
GO:0006897 endocytosis IEA --
GO:0006914 autophagy IGI 19074461
genes like me logo Genes that share ontologies with NPC1: view

No data available for SIGNOR curated interactions for NPC1 Gene

Drugs & Compounds for NPC1 Gene

(5) Drugs for NPC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for NPC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NPC1: view

Transcripts for NPC1 Gene

mRNA/cDNA for NPC1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPC1

Alternative Splicing Database (ASD) splice patterns (SP) for NPC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18a · 18b ^ 19a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 19b · 19c ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b ^ 26
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8: -
SP9:
SP10: -
SP11:
SP12:
SP13:

Relevant External Links for NPC1 Gene

GeneLoc Exon Structure for
NPC1

Expression for NPC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NPC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NPC1 Gene

This gene is overexpressed in Breast (10.5), Amniocyte (8.9), and Bone (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NPC1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPC1

SOURCE GeneReport for Unigene cluster for NPC1 Gene:

Hs.715623

Evidence on tissue expression from TISSUES for NPC1 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Skin(2.8)
  • Kidney(2.7)
  • Blood(2.6)
  • Spleen(2.6)
  • Adrenal gland(2.6)
  • Intestine(2.5)
  • Lymph node(2.3)
  • Lung(2.3)
  • Bone marrow(2.3)
  • Heart(2.2)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NPC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
  • lung
Abdomen:
  • liver
  • spleen
  • stomach
Pelvis:
  • pelvis
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with NPC1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for NPC1 Gene

Orthologs for NPC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NPC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NPC1 30 31
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NPC1 30 31
  • 86.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NPC1 30 31
  • 84.34 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NPC1 31
  • 84 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Npc1 30 17 31
  • 83.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Npc1 30
  • 83.23 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia NPC1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NPC1 30 31
  • 74.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NPC1 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia npc1 30
  • 69.92 (n)
Str.1588 30
Zebrafish
(Danio rerio)
Actinopterygii npc1 30 31
  • 67.01 (n)
OneToOne
wufc29a12 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008137 30
  • 52.14 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Npc1a 30 31
  • 52.08 (n)
ManyToMany
NPC1 32
  • 43 (a)
Npc1b 31
  • 38 (a)
ManyToMany
NPC1b 32
  • 38 (a)
Worm
(Caenorhabditis elegans)
Secernentea npc-1 32
  • 28 (a)
npc-2 32
  • 26 (a)
ncr-2 31
  • 25 (a)
ManyToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F27137g 30
  • 46.53 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCR1 30 31 33
  • 45.61 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL008W 30
  • 45.48 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G38350 30
  • 48.11 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1022 31
  • 55 (a)
OneToMany
-- 31
  • 50 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU04090 30
  • 49.5 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.9699 30
Species where no ortholog for NPC1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NPC1 Gene

ENSEMBL:
Gene Tree for NPC1 (if available)
TreeFam:
Gene Tree for NPC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NPC1: view image

Paralogs for NPC1 Gene

Paralogs for NPC1 Gene

(2) SIMAP similar genes for NPC1 Gene using alignment to 7 proteins:

  • NPC1_HUMAN
  • B4DET3_HUMAN
  • K7EIH7_HUMAN
  • K7ENZ0_HUMAN
  • K7EQ23_HUMAN
  • K7ERM4_HUMAN
  • K7ERW2_HUMAN

Pseudogenes.org Pseudogenes for NPC1 Gene

genes like me logo Genes that share paralogs with NPC1: view

Variants for NPC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPC1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
645173 Pathogenic: Niemann-Pick disease type C1 23,544,377(-) CA/C FRAMESHIFT_VARIANT
657686 Pathogenic: Niemann-Pick disease type C1 23,535,467(-) A/G SPLICE_DONOR_VARIANT
659101 Uncertain Significance: Niemann-Pick disease type C1 23,561,428(-) T/C MISSENSE_VARIANT
663971 Uncertain Significance: Niemann-Pick disease type C1 23,534,510(-) G/A MISSENSE_VARIANT
666978 Likely Pathogenic: Niemann-Pick disease, type C 23,535,535(-) G/GT FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for NPC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NPC1 Gene

Variant ID Type Subtype PubMed ID
esv1106737 CNV insertion 17803354
esv34149 CNV loss 18971310
esv3641971 CNV loss 21293372
nsv509688 CNV insertion 20534489
nsv576572 CNV loss 21841781

Variation tolerance for NPC1 Gene

Residual Variation Intolerance Score: 13.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.74; 97.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPC1 Gene

Human Gene Mutation Database (HGMD)
NPC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPC1 Gene

Disorders for NPC1 Gene

MalaCards: The human disease database

(41) MalaCards diseases for NPC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

NPC1_HUMAN
  • Niemann-Pick disease C1 (NPC1) [MIM:257220]: A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected. {ECO:0000269 PubMed:10480349, ECO:0000269 PubMed:10521290, ECO:0000269 PubMed:10521297, ECO:0000269 PubMed:11182931, ECO:0000269 PubMed:11333381, ECO:0000269 PubMed:11349231, ECO:0000269 PubMed:11479732, ECO:0000269 PubMed:11545687, ECO:0000269 PubMed:11754101, ECO:0000269 PubMed:12401890, ECO:0000269 PubMed:12408188, ECO:0000269 PubMed:12554680, ECO:0000269 PubMed:12955717, ECO:0000269 PubMed:15774455, ECO:0000269 PubMed:16098014, ECO:0000269 PubMed:16126423, ECO:0000269 PubMed:16802107, ECO:0000269 PubMed:27238017, ECO:0000269 PubMed:9211849, ECO:0000269 PubMed:9634529}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NPC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NPC1: view

No data available for Genatlas for NPC1 Gene

Publications for NPC1 Gene

  1. Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. (PMID: 11479732) Ribeiro I … Millat G (Human genetics 2001) 3 4 23 41
  2. Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol. (PMID: 19563754) Kwon HJ … Infante RE (Cell 2009) 3 4 23
  3. Identification of cholesterol-regulating genes by targeted RNAi screening. (PMID: 19583955) Bartz F … Runz H (Cell metabolism 2009) 3 4 23
  4. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. (PMID: 19252935) Fancello T … Filocamo M (Neurogenetics 2009) 3 23 41
  5. NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes. (PMID: 18772377) Infante RE … Goldstein JL (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 23

Products for NPC1 Gene

Sources for NPC1 Gene