ZFIN ID: ZDB-GENE-130514-1
Gene Name: mucolipin 1b
Gene Symbol: mcoln1b    Nomenclature History

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Previous Name: mcoln1.2 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 3 Mapping Details/Browsers
Description: Predicted to have NAADP-sensitive calcium-release channel activity. Involved in autophagy; neuromast hair cell development; and retina homeostasis. Localizes to late endosome and lysosome. Is expressed in several structures, including heart; nervous system; neural rod; otic vesicle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in glycoproteinosis and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin 1).
Genome Resources: Alliance (1),  Gene:795916 (1),  Ensembl(GRCz11):ENSDARG00000058848 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
hg84 Small Deletion Exon 2 Frameshift, Premature Stop CRISPR
hg85 Small Deletion Exon 2 Frameshift, Premature Stop CRISPR
sa19939 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa33083 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa38370 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa39982 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-mcoln1b 1
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH mcoln1b HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    mucolipidosis type IV Alliance Mucolipidosis IV 252650
    DISEASE ASSOCIATED WITH mcoln1b VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process autophagy (more)
    Cellular Component late endosome (more)
    Molecular Function cation channel activity (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA mcoln1b-201 (1)    Ensembl 1838
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM mcoln1b No data available
    MARKER RELATIONSHIPS
    mcoln1b Contained in: [BAC] CH211-274J7
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:XM_001336163 (1) 2576 nt
    Genomic GenBank:BX284638 (1) 160026 nt
    Select Tool
    Polypeptide UniProtKB:E7FBN6 (1) 565 aa
    Sequence Information (all 7)
    ORTHOLOGY for mcoln1b ( Chr: 3 )
    CITATIONS (21)