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    Npc2c Niemann-Pick type C-2c [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 41233, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Npc2cprovided by FlyBase
    Official Full Name
    Niemann-Pick type C-2cprovided by FlyBase
    Primary source
    FLYBASE:FBgn0037783
    Locus tag
    Dmel_CG3934
    See related
    AllianceGenome:FB:FBgn0037783
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    CG3934; Dmel\CG3934; DmML5A; npc2c
    Summary
    Predicted to enable sterol binding activity. Predicted to be involved in sterol transport. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Npc2c in Genome Data Viewer
    Location:
    85F8-85F8; 3-49 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3R NT_033777.3 (10060252..10061136)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3R NT_033777.2 (5885974..5886858)

    Chromosome 3R - NT_033777.3Genomic Context describing neighboring genes Neighboring gene antisense RNA:CR44192 Neighboring gene Niemann-Pick type C-2e Neighboring gene Niemann-Pick type C-2d Neighboring gene antisense RNA:CR45205 Neighboring gene pseudo Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. ML -- a conserved domain involved in innate immunity and lipid metabolism. Inohara N, et al. Trends Biochem Sci, 2002 May. PMID 12076526
    2. The Drosophila DHR96 nuclear receptor binds cholesterol and regulates cholesterol homeostasis. Horner MA, et al. Genes Dev, 2009 Dec 1. PMID 19952106, Free PMC Article
    3. The Effect of Common Inversion Polymorphisms In(2L)t and In(3R)Mo on Patterns of Transcriptional Variation in Drosophila melanogaster. Lavington E, et al. G3 (Bethesda), 2017 Nov 6. PMID 28916647, Free PMC Article
    4. Drosophila melanogaster NPC2 proteins bind bacterial cell wall components and may function in immune signal pathways. Shi XZ, et al. Insect Biochem Mol Biol, 2012 Aug. PMID 22580186, Free PMC Article
    5. Drosophila Niemann-Pick type C-2 genes control sterol homeostasis and steroid biosynthesis: a model of human neurodegenerative disease. Huang X, et al. Development, 2007 Oct. PMID 17804599

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables sterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sterol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sterol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular cholesterol transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sterol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    Niemann-Pick type C-2c
    Names
    CG3934-PA
    Npc2c-PA

    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. NT_033777.3 Reference assembly

      Range
      10060252..10061136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_141719.2 → NP_649976.1  Niemann-Pick type C-2c [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_649976.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      G2J5Z6, Q9VH31
      Related
      FBpp0081654
      Conserved Domains (1) summary
      cd00916
      Location:26 → 155
      Npc2_like; Niemann-Pick type C2 (Npc2) is a lysosomal protein in which a mutation in the gene causes a rare form of Niemann-Pick type C disease, an autosomal recessive lipid storage disorder characterized by accumulation of low-density lipoprotein-derived ...
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9VH31 Q9VH31

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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