ZFIN ID: ZDB-GENE-090506-7
Gene Name: collagen and calcium binding EGF domains 1
Gene Symbol: ccbe1    Nomenclature History

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Previous Names: fof (1), full of fluid (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 21 Mapping Details/Browsers
Description: Predicted to have calcium ion binding activity. Involved in vascular endothelial growth factor signaling pathway and vasculature development. Predicted to localize to collagen trimer and extracellular region. Is expressed in several structures, including axial vasculature; epiphysis; head; intermediate mesoderm; and myoseptum. Human ortholog(s) of this gene implicated in Hennekam syndrome. Orthologous to human CCBE1 (collagen and calcium binding EGF domains 1).
Genome Resources: Alliance (1),  Gene:555629 (1),  Ensembl(GRCz11):ENSDARG00000086158 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
hu3613 Point Mutation Unknown Missense
hu10965 Small Deletion Unknown Frameshift, Premature Stop TALEN
la019987Tg Transgenic Insertion Unknown Unknown DNA
sa1019 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa17588 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
    CRISPR1-ccbe1
    1
    CRISPR2-ccbe1
    1
    MO1-ccbe1 N/A 16
    MO2-ccbe1 N/A 1
    TALEN1-ccbe1 1
    DISEASE ASSOCIATED WITH ccbe1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Hennekam syndrome Alliance Hennekam lymphangiectasia-lymphedema syndrome 1 235510
    DISEASE ASSOCIATED WITH ccbe1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process blood vessel morphogenesis (more)
    Cellular Component collagen trimer (more)
    Molecular Function calcium ion binding (more)
    GO Terms (all 12)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA ccbe1-202 (1)    Ensembl 317
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM ccbe1
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(shha:ccbe1,TagRFP) shha ccbe1TagRFP Danio rerio 1 3
    MARKER RELATIONSHIPS
    ccbe1 Contained in: [BAC] CH211-203M19 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001163923 (1) 1517 nt
    Genomic GenBank:BX548051 (1) 162546 nt
    Select Tool
    Polypeptide UniProtKB:A8WGB1 (1) 401 aa
    Sequence Information (all 24)
    ORTHOLOGY for ccbe1 ( Chr: 21 )
    CITATIONS (52)