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

    Gene ID: 43649, updated on 9-Dec-2024

    Summary

    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 visceral mesoderm derivative. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

    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

    General gene information

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables lipid antigen binding PubMed 
    enables lipopolysaccharide binding PubMed 
    enables lipoteichoic acid binding PubMed 
    enables peptidoglycan binding PubMed 
    enables sterol binding  
    enables sterol binding  
    enables sterol binding PubMed 
    Process Evidence Code Pubs
    involved_in intracellular cholesterol transport  
    involved_in positive regulation of defense response to bacterium PubMed 
    involved_in sterol transport  
    involved_in sterol transport PubMed 
    Component Evidence Code Pubs
    located_in extracellular region PubMed 
    located_in extracellular space PubMed 

    General protein information

    Preferred Names
    Niemann-Pick type C-2h
    Names
    CG11315-PA
    CG11315-PB
    CG11315-PC
    Npc2h-PA
    Npc2h-PB
    Npc2h-PC

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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 ...
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