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    Npc2h Niemann-Pick type C-2h [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 43649, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Npc2hprovided by FlyBase
    Official Full Name
    Niemann-Pick type C-2hprovided by FlyBase
    Primary source
    FLYBASE:FBgn0039801
    Locus tag
    Dmel_CG11315
    See related
    AllianceGenome:FB:FBgn0039801
    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:GH26608; BcDNA:RH04252; BcDNA:RH68460; CG11315; Dmel\CG11315; DmML1A; npc2h
    Summary
    Enables several functions, including lipopolysaccharide binding activity; lipoteichoic acid binding activity; and peptidoglycan binding activity. Involved in positive regulation of defense response to bacterium. Located in extracellular space. Is expressed in adult head; adult heart; embryonic/larval salivary gland; head mesoderm; and somatic trunk mesoderm derivative. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Npc2h in Genome Data Viewer
    Location:
    100A3-100A3; 3-101 cM
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3R NT_033777.3 (30745479..30746290, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3R NT_033777.2 (26571201..26572012, complement)

    Chromosome 3R - NT_033777.3Genomic Context describing neighboring genes Neighboring gene long non-coding RNA:CR43238 Neighboring gene uncharacterized protein Neighboring gene Niemann-Pick type C-2g Neighboring gene Zn finger homeodomain 1 Neighboring gene antisense RNA:CR45189

    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. 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
    3. 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
    4. The DHR96 nuclear receptor controls triacylglycerol homeostasis in Drosophila. Sieber MH, et al. Cell Metab, 2009 Dec. PMID 19945405, Free PMC Article
    5. Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery. Rigon L, et al. Biomedicines, 2021 Mar 7. PMID 33800050, Free PMC Article

    See all (36) 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 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
    involved_in intracellular cholesterol transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of defense response to bacterium IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    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 
    Component Evidence Code Pubs
    located_in extracellular region HDA PubMed 
    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-2h
    Names
    CG11315-PA
    CG11315-PB
    CG11315-PC
    Npc2h-PA
    Npc2h-PB
    Npc2h-PC

    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
      30745479..30746290 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_170521.3 → NP_733400.1  Niemann-Pick type C-2h, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_733400.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q8IMH5
      Related
      FBpp0085083
      Conserved Domains (1) summary
      cl00274
      Location:26 → 126
      ML; The ML (MD-2-related lipid-recognition) domain is present in MD-1, MD-2, GM2 activator protein, Niemann-Pick type C2 (Npc2) protein, phosphatidylinositol/phosphatidylglycerol transfer protein (PG/PI-TP), mite allergen Der p 2 and several proteins of ...

    2. NM_143567.4 → NP_651824.1  Niemann-Pick type C-2h, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_651824.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9VA41
      Related
      FBpp0085084
      Conserved Domains (1) summary
      cd00916
      Location:26 → 153
      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 ...

    3. NM_001260447.2 → NP_001247376.1  Niemann-Pick type C-2h, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001247376.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9VA41
      Conserved Domains (1) summary
      cd00916
      Location:26 → 153
      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
    Q8IMH5 Q8IMH5
    Q8SWT0 Q8SWT0
    Q8SXV5 Q8SXV5
    Q9VA41 Q9VA41

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