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npc1 Niemann-Pick disease, type C1 [ Leucoraja erinaceus (little skate) ]

Gene ID: 129696395, updated on 12-Oct-2024

Summary

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Gene symbol
npc1
Gene description
Niemann-Pick disease, type C1
See related
EnsemblRapid:ENSLERG00010024822
Gene type
protein coding
RefSeq status
MODEL
Organism
Leucoraja erinaceus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Chondrichthyes; Elasmobranchii; Batoidea; Rajiformes; Rajidae; Leucoraja
Orthologs
human zebrafish all
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Genomic context

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See npc1 in Genome Data Viewer
Location:
chromosome: 4
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_04 current Leri_hhj_1 (GCF_028641065.1) 4 NC_073380.1 (52484818..52526534, complement)

Chromosome 4 - NC_073380.1Genomic Context describing neighboring genes Neighboring gene insulin-like growth factor-binding protein complex acid labile subunit Neighboring gene RIO kinase 3 (yeast) Neighboring gene regulator of MON1-CCZ1 Neighboring gene ankyrin repeat domain 29 Neighboring gene laminin subunit alpha-3-like

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_073380.1 Chromosome 4 Reference Leri_hhj_1 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. 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

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables lipid transporter activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
NPC intracellular cholesterol transporter 1

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_028641065.1-RS_2023_04

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

Reference Leri_hhj_1 Primary Assembly

Genomic

  1. NC_073380.1 Reference Leri_hhj_1 Primary Assembly

    Range
    52484818..52526534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_055634256.1 → XP_055490231.1  NPC intracellular cholesterol transporter 1

    Related
    ENSLERP00010048941.1, ENSLERT00010069557.1
Nucleotide Protein
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