ZFIN ID: ZDB-GENE-030131-3161
Gene Name: Niemann-Pick disease, type C1
Gene Symbol: npc1    Nomenclature History

{{control.fieldName}} Edit

ID: {{control.nomenID}}
{{control.fieldName}}:
Reason:
Comments:

Attributions

{{pub.zdbID}}
Previous Names: im:7149020, wu:fb53a12, wu:fc29a12

Add new Alias

Alias
Attribution

Attributions for Alias: {{control.newAlias}}

{{pub.zdbID}}

Delete Alias:

(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 2 Mapping Details/Browsers
Description: Predicted to have lipid transporter activity. Involved in several processes, including cholesterol homeostasis; epiboly involved in gastrulation with mouth forming second; and megakaryocyte development. Predicted to localize to integral component of membrane. Is expressed in several structures, including heart; liver; nervous system; pleuroperitoneal region; and yolk syncytial layer. Used to study Niemann-Pick disease type C1. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Orthologous to human NPC1 (NPC intracellular cholesterol transporter 1).
Genome Resources: Alliance (1),  Gene:553330 (1),  Ensembl(GRCz11):ENSDARG00000017180 (2)
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)
 
High Throughput Expression: GEO (1) , Expression Atlas (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
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-npc1 1
    CRISPR2-npc1 1
    CRISPR3-npc1 1
    MO1-npc1 N/A 4
    MO2-npc1 N/A 1
    DISEASE ASSOCIATED WITH npc1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Niemann-Pick disease type C1 Alliance 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 11)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA npc1-201 (1)    Ensembl 5008
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab2-npc1 monoclonal IgG Rabbit IHC, WB Abcam plc
    2
    Ab1-npc1 polyclonal IgG Rabbit 1
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM npc1 No data available
    MARKER RELATIONSHIPS
    npc1 Contained in: [Fosmid] CH1073-418D18 (1), ZFOS-728C2 (1)
    npc1 Encodes: [EST] fb53a12 (1), fc29a12, IMAGE:7149020 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001243875 (1) 4994 nt
    Genomic GenBank:FP245481 (1) 43929 nt
    Select Tool
    Polypeptide UniProtKB:A0A2R8Q2J0 (1) 1277 aa
    Sequence Information (all 25)
    ORTHOLOGY for npc1 ( Chr: 2 )
    CITATIONS (30)