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    NPC1 NPC intracellular cholesterol transporter 1 [ Bos taurus (domestic cattle) ]

    Gene ID: 286772, updated on 1-Jan-2025

    Summary

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    Official Symbol
    NPC1provided by VGNC
    Official Full Name
    NPC intracellular cholesterol transporter 1provided by VGNC
    Primary source
    VGNC:VGNC:32194
    See related
    BGD:BT11606; Ensembl:ENSBTAG00000015195
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Bos taurus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
    Orthologs
    human mouse all
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    Genomic context

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    See NPC1 in Genome Data Viewer
    Location:
    chromosome: 24
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_12 current ARS-UCD2.0 (GCF_002263795.3) 24 NC_037351.1 (33058694..33105394)

    Chromosome 24 - NC_037351.1Genomic Context describing neighboring genes Neighboring gene U6 spliceosomal RNA Neighboring gene ankyrin repeat domain 29 Neighboring gene uncharacterized LOC101904227 Neighboring gene regulator of MON1-CCZ1 Neighboring gene transfer RNA cysteine (anticodon ACA) Neighboring gene RIO kinase 3

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_037351.1 Chromosome 24 Reference ARS-UCD2.0 Primary Assembly

    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Dominette sequence data
    • BioProject: PRJNA294306
    • Analysis date: Tue Dec 17 08:57:05 2024

    Bibliography

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    Related articles in PubMed

    1. Identification of bovine NPC1 gene cSNPs and their effects on body size traits of Qinchuan cattle. Dang Y, et al. Gene, 2014 May 1. PMID 24607034
    2. A whole-genome assembly of the domestic cow, Bos taurus. Zimin AV, et al. Genome Biol, 2009. PMID 19393038, Free PMC Article
    3. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
    4. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The NPC1 gene might be involved in the regulation of bovine growth and body development.
      Title: Identification of bovine NPC1 gene cSNPs and their effects on body size traits of Qinchuan cattle.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables cholesterol binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables lipid transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in intestinal cholesterol absorption IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NPC intracellular cholesterol transporter 1
    Names
    Niemann-Pick disease, type C1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_174758.2 → NP_777183.1  NPC intracellular cholesterol transporter 1 precursor

      See identical proteins and their annotated locations for NP_777183.1

      Status: PROVISIONAL

      Source sequence(s)
      AF299073
      UniProtKB/TrEMBL
      B0JYK2, F1MXT8, Q9GLC9
      Related
      ENSBTAP00000020219.5, ENSBTAT00000020219.6
      Conserved Domains (3) summary
      TIGR00917
      Location:25 → 1251
      2A060601; Niemann-Pick C type protein family
      pfam12349
      Location:649 → 801
      Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
      pfam16414
      Location:23 → 267
      NPC1_N; Niemann-Pick C1 N terminus

    RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2024_12

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference ARS-UCD2.0 Primary Assembly

    Genomic

    1. NC_037351.1 Reference ARS-UCD2.0 Primary Assembly

      Range
      33058694..33105394
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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    Research Materials