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ZIRC
ZFIN ID: ZDB-GENE-030131-3161
Gene Name: Niemann-Pick disease, type C1
Gene Symbol: npc1
Sequence Ontology ID : SO:0001217

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Previous Names: im:7149020, wu:fb53a12, wu:fc29a12

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(Including Attributions)
Location: Chr: 2 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Predicted to have lipid transporter activity. Involved in several processes, including cholesterol homeostasis; epiboly involved in gastrulation with mouth forming second; and megakaryocyte  ...
GENE EXPRESSION
All Expression Data: 13 figures from 7 publications
Directly Submitted Expression Data: 5 figures (5 images) from Thisse et al., 2004 [IMAGE:7149020]
Wild-type Stages, Structures: Cleavage:2-cell (0.75h-1.0h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
hg37 Indel Exon 7 Frameshift, Premature Stop CRISPR
ihb334 Insertion Exon 2 Premature Stop CRISPR
  • China Zebrafish Resource Center (CZRC) (order this)
  • ihb335 Small Deletion Exon 2 Premature Stop CRISPR
  • China Zebrafish Resource Center (CZRC) (order this)
  • sa19662 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • y535 Indel Exon 2 Frameshift, Premature Stop CRISPR
    Targeting reagents:
    DISEASE ASSOCIATED WITH npc1 HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    Niemann-Pick disease type C1 Niemann-Pick disease, type C1 257220
    Niemann-Pick disease, type D 257220
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process response to hypoxia (more)
    Cellular Component integral component of membrane (more)
    Molecular Function lipid transporter activity (more)
    GO Terms (all 10)
    TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA npc1-201 (1) 5008
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM npc1 No data available
    MARKER RELATIONSHIPS
    npc1 Contained in: [Fosmid] CH1073-418D18 (1) (order this), ZFOS-728C2 (1)
    npc1 Encodes: [EST] fb53a12 (1), fc29a12, IMAGE:7149020 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001243875 (1) 4994 bp
    Genomic GenBank:FP245481 (1) 43929 bp
    Select Tool
    Polypeptide UniProtKB:A0A2R8Q2J0 (1) 1277 aa
    Sequence Clusters UniGene:108239 (1)
    Sequence Information (all 26)
    ORTHOLOGY for npc1 ( Chr: 2 )
    CITATIONS (28)