ZFIN ID: ZDB-GENE-030131-7050
Gene Name: dynein, cytoplasmic 1, heavy chain 1
Gene Symbol: dync1h1    Nomenclature History

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Previous Names: fk70a07, wu:fk70a07

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 17 Mapping Details/Browsers
Description: Predicted to have ATP binding activity and microtubule motor activity. Involved in camera-type eye photoreceptor cell differentiation and central nervous system myelination. Predicted to localize to dynein complex. Is expressed in eye photoreceptor cell; photoreceptor outer segment layer; and retinal photoreceptor layer. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2O; autosomal dominant non-syndromic intellectual disability 13; and spinal muscular atrophy with lower extremity predominance 1. Orthologous to human DYNC1H1 (dynein cytoplasmic 1 heavy chain 1).
Genome Resources: Alliance (1),  Gene:335110 (1),  Ensembl(GRCz11):ENSDARG00000014717 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
hi3684Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • ihb270 Indel Unknown Unknown CRISPR
    ihb271 Insertion Exon 1 Unknown CRISPR
    mw20 Point Mutation Unknown Premature Stop
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa9468 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa19157 Point Mutation Unknown Splice Site ENU
    sa30693 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa42839 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa42840 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa42841 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa44865 Point Mutation Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • sa45588 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • vu76 Point Mutation Unknown Premature Stop ENU
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-dync1h1 1
    MO1-dync1h1 N/A 5
    DISEASE ASSOCIATED WITH dync1h1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    autosomal dominant non-syndromic intellectual disability 13 Alliance Mental retardation, autosomal dominant 13 614563
    Charcot-Marie-Tooth disease axonal type 2O Alliance Charcot-Marie-Tooth disease, axonal, type 20 614228
    spinal muscular atrophy with lower extremity predominance 1 Alliance Spinal muscular atrophy, lower extremity-predominant 1, AD 158600
    DISEASE ASSOCIATED WITH dync1h1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process camera-type eye photoreceptor cell differentiation (more)
    Cellular Component dynein complex (more)
    Molecular Function ATP binding (more)
    GO Terms (all 10)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS No data available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab2-dync1h1 polyclonal IgG Rabbit IHC Proteintech
    2
    Ab3-dync1h1 polyclonal Rabbit IHC Santa Cruz Biotechnology, Inc.
    1
    Ab1-dync1h1 polyclonal Rabbit IHC, WB 1
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM dync1h1 No data available
    MARKER RELATIONSHIPS
    dync1h1 Encodes: [EST] fk70a07
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001042745 (1) 14187 nt
    Genomic GenBank:CABZ01078852 (1)
    Polypeptide UniProtKB:Q2LEK1 (1) 4643 aa
    Sequence Information (all 19)
    ORTHOLOGY for dync1h1 ( Chr: 17 )
    CITATIONS (34)