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

Gene ID: 33374, updated on 9-Dec-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 midgut; embryonic/larval salivary gland; and ganglia. 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, Dec 2024]
Orthologs
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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 (45) 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 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

Gene LinkOut

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