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Npc2c Niemann-Pick type C-2c [ Drosophila melanogaster (fruit fly) ]

Gene ID: 41233, updated on 4-Jan-2025

Summary

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Official Symbol
Npc2cprovided by FlyBase
Official Full Name
Niemann-Pick type C-2cprovided by FlyBase
Primary source
FLYBASE:FBgn0037783
Locus tag
Dmel_CG3934
See related
AllianceGenome:FB:FBgn0037783
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
CG3934; Dmel\CG3934; DmML5A; npc2c
Summary
Predicted to enable sterol binding activity. Predicted to be involved in sterol transport. [provided by Alliance of Genome Resources, Jan 2025]
Orthologs
all
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Genomic context

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See Npc2c in Genome Data Viewer
Location:
85F8-85F8; 3-49 cM
Exon count:
3
Annotation release Status Assembly Chr Location
Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3R NT_033777.3 (10060252..10061136)
Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3R NT_033777.2 (5885974..5886858)

Chromosome 3R - NT_033777.3Genomic Context describing neighboring genes Neighboring gene antisense RNA:CR44192 Neighboring gene Niemann-Pick type C-2e Neighboring gene Niemann-Pick type C-2d Neighboring gene antisense RNA:CR45205 Neighboring gene pseudo Neighboring gene uncharacterized protein

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. The Drosophila DHR96 nuclear receptor binds cholesterol and regulates cholesterol homeostasis. Horner MA, et al. Genes Dev, 2009 Dec 1. PMID 19952106, Free PMC Article
  3. The Effect of Common Inversion Polymorphisms In(2L)t and In(3R)Mo on Patterns of Transcriptional Variation in Drosophila melanogaster. Lavington E, et al. G3 (Bethesda), 2017 Nov 6. PMID 28916647, Free PMC Article
  4. 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
  5. 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

See all (34) 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 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 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 

General protein information

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Preferred Names
Niemann-Pick type C-2c
Names
CG3934-PA
Npc2c-PA

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
    10060252..10061136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_141719.2 → NP_649976.1  Niemann-Pick type C-2c [Drosophila melanogaster]

    See identical proteins and their annotated locations for NP_649976.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    G2J5Z6, Q9VH31
    Related
    FBpp0081654
    Conserved Domains (1) summary
    cd00916
    Location:26 → 155
    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
Q9VH31 Q9VH31

Gene LinkOut

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