ZFIN ID: ZDB-GENE-040426-757
Gene Name: McKusick-Kaufman syndrome
Gene Symbol: mkks    Nomenclature History

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Previous Names: bbs6, zgc:55608

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 13 Mapping Details/Browsers
Description: Predicted to have ATP binding activity and unfolded protein binding activity. Involved in several processes, including embryonic morphogenesis; establishment of pigment granule localization; and sensory organ development. Localizes to the cytoplasm and nucleus. Used to study ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome; congenital heart disease; and obesity. Orthologous to human MKKS (McKusick-Kaufman syndrome).
Genome Resources: Alliance (1),  Gene:393134 (1),  Ensembl(GRCz11):ENSDARG00000016139 (1)
GENE EXPRESSION
All Expression Data: 3 figures from 3 publications
Directly Submitted Expression Data: 1 figure (1 image) from Thisse et al., 2004 [MGC:55608]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Larval:Day 5 (120.0h-144.0h, 3.9mm, 6 teeth)
 
Curated Microarray Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa9366 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa22346 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-mkks N/A 8
    MO2-mkks N/A 3
    MO3-mkks N/A 2
    MO4-mkks N/A 2
    DISEASE ASSOCIATED WITH mkks HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Bardet-Biedl syndrome 6 Alliance Bardet-Biedl syndrome 6 605231
    McKusick-Kaufman syndrome Alliance McKusick-Kaufman syndrome 236700
    DISEASE ASSOCIATED WITH mkks VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    ciliopathy WT + MO1-mkks control Tobin et al., 2008
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process camera-type eye development (more)
    Cellular Component cytoplasm (more)
    Molecular Function protein binding (more)
    GO Terms (all 22)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Family IPR002423 Chaperonin Cpn60/TCP-1 family
    Homologous_superfamily IPR027409 GroEL-like apical domain superfamily
    Homologous_superfamily IPR027410 TCP-1-like chaperonin intermediate domain superfamily
    Homologous_superfamily IPR027413 GroEL-like equatorial domain superfamily
    Family IPR028790 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA mkks-201 (1)    Ensembl 1815
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM mkks
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(hsp70l:EGFP-mkks) hsp70l EGFPmkks Danio rerio 1 1
    MARKER RELATIONSHIPS
    mkks Contained in: [BAC] CH73-386L23 (1)
    mkks Encodes: [cDNA] MGC:55608 (1), MGC:192400 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_200165 (1) 1831 bp
    Genomic GenBank:CU681845 (1) 52504 bp
    Select Tool
    Polypeptide UniProtKB:F1QCQ8 (1) 563 aa
    Sequence Information (all 17)
    ORTHOLOGY for mkks ( Chr: 13 )
    CITATIONS (35)