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    NPC1 NPC intracellular cholesterol transporter 1 [ Homo sapiens (human) ]

    Gene ID: 4864, updated on 20-Apr-2017
    Official Symbol
    NPC1provided by HGNC
    Official Full Name
    NPC intracellular cholesterol transporter 1provided by HGNC
    Primary source
    HGNC:HGNC:7897
    See related
    Ensembl:ENSG00000141458 MIM:607623; Vega:OTTHUMG00000131873
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NPC
    Summary
    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]
    Orthologs
    Location:
    18q11.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (23506184..23586617, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (21086148..21166581, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene Cdk5 and Abl enzyme substrate 1 Neighboring gene transmembrane protein 241 Neighboring gene RIO kinase 3 Neighboring gene chromosome 18 open reading frame 8 Neighboring gene ankyrin repeat domain 29 Neighboring gene ribosomal protein S10 pseudogene 27

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Niemann-Pick disease type C1
    MedGen: C3179455 OMIM: 257220 GeneReviews: Niemann-Pick Disease Type C
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag NPC2-deficient cells exhibit Gag accumulation in late endosomal/lysosomal (LE/L) compartments of these cells as well as decreased NPC1 expression after HIV infection PubMed
    gag Niemann-Pick type C-1 (NPC1)-deficient (NPCD) cells exhibit few HIV-1 budding events. HIV-1 Gag accumulates in late endosomal/lysosomal (LE/L) compartments in NPCD cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Irinotecan Pathway, organism-specific biosystem (from WikiPathways)
      Irinotecan Pathway, organism-specific biosystemThis pathway shows the biotransformation of the chemotherapy prodrug irinotecan to form the active metabolite SN-38, an inhibitor of DNA topoisomerase I. SN-38 is primarily metabolized to the inactiv...
    • LDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
      LDL-mediated lipid transport, organism-specific biosystemLDL (low density lipoproteins) are complexes of a single molecule of apoprotein B-100 (apoB-100) non-covalently associated with triacylglycerol, free cholesterol, cholesterol esters, and phospholipid...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ98532

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cholesterol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    sterol transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    virus receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    autophagy IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    bile acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to low-density lipoprotein particle stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to steroid hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cholesterol homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    establishment of protein localization to membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane raft organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell death IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of macroautophagy IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein glycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
     
    response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    viral entry into host cell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    Niemann-Pick C1 protein
    Names
    truncated Niemann-Pick C1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012795.1 RefSeqGene

      Range
      5001..60119
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000271.4NP_000262.2  Niemann-Pick C1 protein precursor

      See identical proteins and their annotated locations for NP_000262.2

      Status: REVIEWED

      Source sequence(s)
      AB209048, AF002020, BC063302, DR159421
      Consensus CDS
      CCDS11878.1
      UniProtKB/Swiss-Prot
      O15118
      Related
      ENSP00000269228.4, OTTHUMP00000162699, ENST00000269228.9, OTTHUMT00000254823
      Conserved Domains (3) summary
      TIGR00917
      Location:251252
      2A060601; Niemann-Pick C type protein family
      pfam12349
      Location:649802
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      pfam16414
      Location:23267
      NPC1_N; Niemann-Pick C1 N terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      23506184..23586617 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258277.1XP_005258334.1  Niemann-Pick C1 protein isoform X1

      Conserved Domains (3) summary
      TIGR00917
      Location:251268
      2A060601; Niemann-Pick C type protein family
      pfam12349
      Location:666819
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      pfam16414
      Location:23267
      NPC1_N; Niemann-Pick C1 N terminus
    2. XM_011526015.1XP_011524317.1  Niemann-Pick C1 protein isoform X9

      Related
      ENSP00000467636.1, OTTHUMP00000261014, ENST00000591051.1, OTTHUMT00000445479
      Conserved Domains (3) summary
      TIGR00917
      Location:11113
      2A060601; Niemann-Pick C type protein family
      pfam12349
      Location:511664
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      pfam16414
      Location:1112
      NPC1_N; Niemann-Pick C1 N terminus
    3. XM_005258279.2XP_005258336.1  Niemann-Pick C1 protein isoform X3

      Conserved Domains (3) summary
      TIGR00917
      Location:251251
      2A060601; Niemann-Pick C type protein family
      pfam12349
      Location:649802
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      pfam16414
      Location:23267
      NPC1_N; Niemann-Pick C1 N terminus
    4. XM_017025787.1XP_016881276.1  Niemann-Pick C1 protein isoform X8

    5. XM_006722479.3XP_006722542.1  Niemann-Pick C1 protein isoform X5

      Conserved Domains (3) summary
      TIGR00917
      Location:251269
      2A060601; Niemann-Pick C type protein family
      pfam12349
      Location:666819
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      pfam16414
      Location:23267
      NPC1_N; Niemann-Pick C1 N terminus
    6. XM_017025785.1XP_016881274.1  Niemann-Pick C1 protein isoform X6

    7. XM_017025784.1XP_016881273.1  Niemann-Pick C1 protein isoform X4

    8. XM_017025786.1XP_016881275.1  Niemann-Pick C1 protein isoform X7

    9. XM_005258278.4XP_005258335.1  Niemann-Pick C1 protein isoform X2

      Conserved Domains (3) summary
      TIGR00917
      Location:251269
      2A060601; Niemann-Pick C type protein family
      pfam12349
      Location:666819
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      pfam16414
      Location:23267
      NPC1_N; Niemann-Pick C1 N terminus

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      21038743..21093877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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