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    ncr-2 NPC intracellular cholesterol transporter 1 homolog 2 [ Caenorhabditis elegans ]

    Gene ID: 176165, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ncr-2
    Official Full Name
    NPC intracellular cholesterol transporter 1 homolog 2
    Primary source
    WormBase:WBGene00003562
    Locus tag
    CELE_F09G8.4
    See related
    AllianceGenome:WB:WBGene00003562
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Predicted to enable cholesterol binding activity. Involved in cholesterol homeostasis; cholesterol transport; and nematode larval development. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in XXXL; XXXR; gonadal sheath cell; spermatheca; and ventral nerve cord. Used to study Niemann-Pick disease. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Orthologous to human NPC1 (NPC intracellular cholesterol transporter 1). [provided by Alliance of Genome Resources, Nov 2024]
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    Genomic context

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    See ncr-2 in Genome Data Viewer
    Location:
    chromosome: III
    Exon count:
    19
    Sequence:
    Chromosome: III; NC_003281.10 (8258345..8265805)

    Chromosome III - NC_003281.10Genomic Context describing neighboring genes Neighboring gene Kinetochore null protein 1 Neighboring gene Uncharacterized protein Neighboring gene Putative cuticle collagen 91 Neighboring gene Small ribosomal subunit protein uS9m Neighboring gene Uncharacterized protein

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003281.10

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation. Godeiro-Júnior C, et al. Mov Disord, 2006 Dec. PMID 17044092
    2. A model for niemann-pick type C disease in the nematode Caenorhabditis elegans. Sym M, et al. Curr Biol, 2000 May 4. PMID 10801441
    3. CUP-1 is a novel protein involved in dietary cholesterol uptake in Caenorhabditis elegans. Valdes VJ, et al. PLoS One, 2012. PMID 22479487, Free PMC Article
    4. NCR-1 and NCR-2, the C. elegans homologs of the human Niemann-Pick type C1 disease protein, function upstream of DAF-9 in the dauer formation pathways. Li J, et al. Development, 2004 Nov. PMID 15509773
    5. Human NPC1L1 and NPC1 can functionally substitute for the ncr genes to promote reproductive development in C. elegans. Smith MM, et al. Biochim Biophys Acta, 2007 Sep. PMID 17662536

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.
      Title: Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cholesterol homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol homeostasis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in cholesterol transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in dauer larval development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in intestinal cholesterol absorption IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vulval development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    NPC intracellular cholesterol transporter 1 homolog 2
    NP_498813.1
    • Confirmed by transcript evidence

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_003281.10 Reference assembly

      Range
      8258345..8265805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_066412.4 → NP_498813.1  NPC intracellular cholesterol transporter 1 homolog 2 [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_498813.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      P34389, Q8MYQ6
      Conserved Domains (3) summary
      TIGR00917
      Location:85 → 1236
      2A060601; Niemann-Pick C type protein family
      pfam16414
      Location:29 → 242
      NPC1_N; Niemann-Pick C1 N terminus
      cl21543
      Location:619 → 783
      MMPL; MMPL family
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P34389.2

    Gene LinkOut

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