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

Gene ID: 43649, updated on 18-Sep-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 several structures, including adult heart; embryonic/larval fat body; embryonic/larval salivary gland; head mesoderm; and visceral mesoderm derivative. 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
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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 (35) 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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