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    Npc2a Niemann-Pick type C-2a [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 33374, updated on 10-May-2024

    Summary

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    Official Symbol
    Npc2aprovided by FlyBase
    Official Full Name
    Niemann-Pick type C-2aprovided by FlyBase
    Primary source
    FLYBASE:FBgn0031381
    Locus tag
    Dmel_CG7291
    See related
    AllianceGenome:FB:FBgn0031381
    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
    BcDNA:GH22047; BcDNA:RH53228; BEST:GH08376; CG7291; CT22505; Dmel\CG7291; DmML3; dnpc2a; NPC2; npc2a
    Summary
    Enables several functions, including lipopolysaccharide binding activity; lipoteichoic acid binding activity; and peptidoglycan binding activity. Involved in several processes, including positive regulation of defense response to bacterium; sterol homeostasis; and synaptic target recognition. Located in extracellular space. Is expressed in several structures, including adult heart; embryonic/larval central nervous system; and embryonic/larval digestive system. Human ortholog(s) of this gene implicated in Niemann-Pick disease and Niemann-Pick disease type C2. Orthologous to human NPC2 (NPC intracellular cholesterol transporter 2). [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    all
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    Genomic context

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    See Npc2a in Genome Data Viewer
    Location:
    22B8-22B8; 2-3 cM
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2L NT_033779.5 (1988290..1988940)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2L NT_033779.4 (1988290..1988940)

    Chromosome 2L - NT_033779.5Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene Glutamate oxaloacetate transaminase 2 Neighboring gene long non-coding RNA:CR42874 Neighboring gene Odorant-binding protein 22a

    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. 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
    2. ML -- a conserved domain involved in innate immunity and lipid metabolism. Inohara N, et al. Trends Biochem Sci, 2002 May. PMID 12076526
    3. 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
    4. The Fruit Fly Drosophila melanogaster as a Model System to Study Cholesterol Metabolism and Homeostasis. Niwa R, et al. Cholesterol, 2011. PMID 21512589, Free PMC Article
    5. New players in the regulation of ecdysone biosynthesis. Huang X, et al. J Genet Genomics, 2008 Jan. PMID 18222403

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. may play a role in the immune deficiency pathway
      Title: Drosophila melanogaster NPC2 proteins bind bacterial cell wall components and may function in immune signal pathways.
    2. Data suggest that npc2a functions redundantly with npc2b in regulating sterol homeostasis and ecdysteroid biosynthesis, probably by controlling the availability of sterol substrate.
      Title: Drosophila Niemann-Pick type C-2 genes control sterol homeostasis and steroid biosynthesis: a model of human neurodegenerative disease.
    Submit: New GeneRIF Correction

    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables cholesterol transfer activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables lipid antigen binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables lipopolysaccharide binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables lipoteichoic acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptidoglycan binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    acts_upstream_of ecdysteroid biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in intracellular cholesterol transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular cholesterol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of defense response to bacterium IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in sterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sterol transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sterol transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synaptic target recognition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    Niemann-Pick type C-2a
    Names
    CG7291-PA
    Niemann-Pick type C-2
    Npc2a-PA
    epididymal secretory protein

    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_033779.5 Reference assembly

      Range
      1988290..1988940
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_134793.5 → NP_608637.1  Niemann-Pick type C-2a [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_608637.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q9VQ62
      Related
      FBpp0077492
      Conserved Domains (1) summary
      cd00916
      Location:21 → 145
      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
    Q9VQ62.1 Q9VQ62

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