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    Npc1b Niemann-Pick type C-1b [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 33072, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Npc1bprovided by FlyBase
    Official Full Name
    Niemann-Pick type C-1bprovided by FlyBase
    Primary source
    FLYBASE:FBgn0261675
    Locus tag
    Dmel_CG12092
    See related
    AllianceGenome:FB:FBgn0261675
    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
    151; 4; 7; AF2/19; CG12092; Dmel\CG12092; dncp1b; dnpc1b; l(1)19Ec; l(1)2-3; l(1)R-9-28; l151; l152; lN5; lt2-14a; npc1b; NPC1b; Q256; R-9-28; R9-28
    Old locus tag
    Dmel_CG11233
    Summary
    Predicted to enable cholesterol binding activity. Involved in dorsal closure; intestinal cholesterol absorption; and nervous system development. Predicted to be active in plasma membrane. Is expressed in adult head; embryonic/larval anterior midgut; and embryonic/larval posterior midgut. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Orthologous to human NPC1 (NPC intracellular cholesterol transporter 1) and NPC1L1 (NPC1 like intracellular cholesterol transporter 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Npc1b in Genome Data Viewer
    Location:
    19E5-19E5; 1-65 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) X NC_004354.4 (20934869..20939503)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) X NC_004354.3 (20805896..20810530)

    Chromosome X - NC_004354.4Genomic Context describing neighboring genes Neighboring gene shaking B Neighboring gene Inhibitor-3 Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene Serine protease 6

    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. Phylogeny and evolution of the cholesterol transporter NPC1 in insects. Zheng JC, et al. J Insect Physiol, 2018 May-Jun. PMID 29649482
    2. Drosophila NPC1b promotes an early step in sterol absorption from the midgut epithelium. Voght SP, et al. Cell Metab, 2007 Mar. PMID 17339027
    3. Mutations of a Drosophila NPC1 gene confer sterol and ecdysone metabolic defects. Fluegel ML, et al. Genetics, 2006 Jan. PMID 16079224, Free PMC Article
    4. A Drosophila model of the Niemann-Pick type C lysosome storage disease: dnpc1a is required for molting and sterol homeostasis. Huang X, et al. Development, 2005 Nov. PMID 16221727
    5. Understanding and Treating Niemann-Pick Type C Disease: Models Matter. Pallottini V, et al. Int J Mol Sci, 2020 Nov 26. PMID 33256121, Free PMC Article

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lipid transporter activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in central nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cholesterol homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cholesterol transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in dorsal closure IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intestinal cholesterol absorption IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intestinal cholesterol absorption IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in peripheral nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane ISM
    Inferred from Sequence Model
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    Niemann-Pick type C-1b
    Names
    CG12092-PA
    NPC1b
    Niemann-Pick
    Npc1b-PA
    lethal (1) 19Ec
    section 4
    section 7

    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_004354.4 Reference assembly

      Range
      20934869..20939503
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_134573.3 → NP_608417.2  Niemann-Pick type C-1b [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_608417.2

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q9VRC9
      Conserved Domains (4) summary
      TIGR00917
      Location:24 → 1220
      2A060601; Niemann-Pick C type protein family
      pfam12349
      Location:623 → 775
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      pfam16414
      Location:24 → 270
      NPC1_N; Niemann-Pick C1 N terminus
      cl11424
      Location:265 → 331
      nitrilase; Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9VRC9.2 Q9VRC9

    Gene LinkOut

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