ZFIN ID: ZDB-GENE-030131-55
Gene Name: actin alpha 1, skeletal muscle b
Gene Symbol: acta1b    Nomenclature History

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Previous Names: actc1, actc (1), cfk (1), cardiofunk, hm:zeh0631, zeh0631

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 13 Mapping Details/Browsers
Description: Predicted to have ATP binding activity. Involved in embryonic heart tube development and skeletal muscle fiber development. Predicted to localize to actin cytoskeleton. Is expressed in several structures, including cardiovascular system; eye; fast muscle myoblast; segmental plate; and trunk. Human ortholog(s) of this gene implicated in congenital fiber-type disproportion and nemaline myopathy 3. Orthologous to human ACTA1 (actin alpha 1, skeletal muscle).
Genome Resources: Alliance (1),  Gene:407658 (1),  Ensembl(GRCz11):ENSDARG00000055618 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
s11 Point Mutation Unknown Unknown ENU
sa10892 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa35480 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-acta1b N/A 1
    DISEASE ASSOCIATED WITH acta1b HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    congenital fiber-type disproportion Alliance Myopathy, congenital, with fiber-type disproportion 1 255310
    nemaline myopathy 3 Alliance Myopathy, actin, congenital, with cores 161800
    Myopathy, actin, congenital, with excess of thin myofilaments 161800
    Nemaline myopathy 3, autosomal dominant or recessive 161800
    ?Myopathy, scapulohumeroperoneal 616852
    DISEASE ASSOCIATED WITH acta1b VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process skeletal muscle fiber development (more)
    Cellular Component cytoplasm (more)
    Molecular Function ATP binding (more)
    GO Terms (all 8)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA acta1b-201 (1)    Ensembl 1542
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM acta1b No data available
    MARKER RELATIONSHIPS
    acta1b Contained in: [BAC] DKEY-162B3 (1) (order this)
    acta1b Encodes: [EST] zeh0631
    [cDNA] MGC:110101 (1)
    acta1b Has Artifact: [EST] fc12a01
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_214784 (1) 1522 nt
    Genomic GenBank:CR762497 (1) 258636 nt Blast at MegaBLAST
    Polypeptide UniProtKB:Q4KMI7 (1) 377 aa
    Sequence Information (all 12)
    ORTHOLOGY for acta1b ( Chr: 13 )
    CITATIONS (56)