ZFIN ID: ZDB-GENE-040704-3
Gene Name: RanBP-type and C3HC4-type zinc finger containing 1
Gene Symbol: rbck1    Nomenclature History

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Previous Name: zgc:91964

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 22 Mapping Details/Browsers
Description: Predicted to have metal ion binding activity and transferase activity. Involved in embryonic cranial skeleton morphogenesis. Human ortholog(s) of this gene implicated in glycogen storage disease. Is expressed in pharyngeal arch. Orthologous to human RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1).
Genome Resources: Alliance (1),  Gene:431715 (1),  Ensembl(GRCz11):ENSDARG00000031954 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la014129Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la022114Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-rbck1 N/A 1
    MO2-rbck1 N/A 1
    DISEASE ASSOCIATED WITH rbck1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Polyglucosan body myopathy 1 with or without immunodeficiency 615895
    DISEASE ASSOCIATED WITH rbck1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process embryonic cranial skeleton morphogenesis (more)
    Cellular Component LUBAC complex (more)
    Molecular Function metal ion binding (more)
    GO Terms (all 10)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR000626 Ubiquitin-like domain
    Domain IPR001841 Zinc finger, RING-type
    Domain IPR001876 Zinc finger, RanBP2-type
    Domain IPR002867 IBR domain
    Homologous_superfamily IPR013083 Zinc finger, RING/FYVE/PHD-type
    Conserved_site IPR017907 Zinc finger, RING-type, conserved site
    Family IPR026261 RanBP-type and C3HC4-type zinc finger-containing protein 1/SHARPIN
    Homologous_superfamily IPR029071 Ubiquitin-like domain superfamily
    Homologous_superfamily IPR036443 Zinc finger, RanBP2-type superfamily
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA rbck1-201 (1)    Ensembl 2629
    rbck1-203 (1)    Ensembl 493
    rbck1-204 (1)    Ensembl 518
    ncRNA rbck1-004 (1)    Ensembl 204
    rbck1-005 (1)    Ensembl 490
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM rbck1 No data available
    MARKER RELATIONSHIPS
    rbck1 Contained in: [BAC] DKEY-102C8 (1) (order this)
    rbck1 Encodes: [cDNA] MGC:91964 (1), MGC:192378 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001002168 (1) 2640 bp
    Genomic GenBank:BX324213 (1) 94824 bp
    Select Tool
    Polypeptide UniProtKB:Q6GMF9 (1) 515 aa
    Sequence Information (all 25)
    ORTHOLOGY for rbck1 ( Chr: 22 )
    CITATIONS (22)