ZFIN ID: ZDB-GENE-030131-3161
Gene Name: Niemann-Pick disease, type C1
Gene Symbol: npc1
Previous Names: im:7149020, wu:fb53a12, wu:fc29a12
Location: Chr: 2 Details
Nomenclature History
GENE EXPRESSION
All Expression Data: 9 figures from 4 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)
  brain, eye, gill, nervous system (all 7) expand
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Mutagen Suppliers
sa19662 Point Mutation ENU
Targeting reagents: MO1-npc1 (1), MO2-npc1 (1)
PHENOTYPE
Data: 9 figures from 2 publications
Observed in: actin cytoskeleton organization, blood island thrombocyte, brain, cell death (all 14) expand
DISEASE ASSOCIATED WITH npc1 HUMAN ORTHOLOG
Disease Ontology Term OMIM Term OMIM Phenotype ID
Niemann-Pick disease 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 hedgehog receptor activity (more)
GO Terms (all 9)
PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR000731 (1)
  • InterPro:IPR003392 (1)
  • InterPro:IPR004765 (1)
  • InterPro:IPR032190 (1)
  • PROSITE:PS50156 (1)
  • Pfam:PF02460 (1)
  • Pfam:PF16414 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA npc1-001 (1) 5008
    GENE PRODUCT DESCRIPTION
    ANTIBODIES
    Ab1-npc1 (1)
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM npc1 No data available
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    npc1Contained in: [Fosmid] CH1073-418D18 (1) (order this), ZFOS-728C2 (1)
    npc1Encodes: [EST] fb53a12 (1), fc29a12, IMAGE:7149020 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001243875 (1) 4994bp
    Genomic GenBank:FP245481 (1) 43929bp
    Select Tool
    Polypeptide UniProtKB:F6N6I8 (1) 1277aa
    Sequence Clusters UniGene:108239 (1)
    Sequence Information (all 22)
    OTHER npc1 GENE PAGES
  • Gene:553330 (1)
  • VEGA:OTTDARG00000034703 (1)
  • Ensembl(GRCz10):ENSDARG00000017180 (1)
  • ORTHOLOGY for npc1 (Chr: 2)
    Species Symbol Chromosome Accession # Evidence
    Human NPC1 18
  • Gene:4864
  • OMIM:607623
  • HGNC:7897
  • Amino acid sequence comparison (3)
    Mouse Npc1 18
  • MGI:1097712
  • Gene:18145
  • Amino acid sequence comparison (1)
    Download Curated Orthology
    CITATIONS (16)