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    Mkks McKusick-Kaufman syndrome [ Rattus norvegicus (Norway rat) ]

    Gene ID: 311456, updated on 18-Apr-2019

    Summary

    Official Symbol
    Mkksprovided by RGD
    Official Full Name
    McKusick-Kaufman syndromeprovided by RGD
    Primary source
    RGD:1308814
    See related
    Ensembl:ENSRNOG00000006705
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. [provided by RefSeq, Nov 2013]
    Expression
    Biased expression in Heart (RPKM 91.2), Brain (RPKM 90.1) and 9 other tissues See more
    Orthologs

    Genomic context

    See Mkks in Genome Data Viewer
    Location:
    3q36
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    106 current Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (129866542..129885213, complement)
    104 previous assembly Rnor_5.0 (GCF_000001895.4) 3 NC_005102.3 (136347547..136365815, complement)

    Chromosome 3 - NC_005102.4Genomic Context describing neighboring genes Neighboring gene synaptosome associated protein 25 Neighboring gene uncharacterized LOC108350473 Neighboring gene hypothetical LOC100361315 Neighboring gene SLX4 interacting protein Neighboring gene uncharacterized LOC108350474 Neighboring gene jagged canonical Notch ligand 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    General gene information

    Markers

    Homology

    Clone Names

    • MGC95109

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II repressing transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II repressing transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    molecular_function ND
    No biological Data available
    more info
     
    unfolded protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    artery smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    artery smooth muscle contraction ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    biological_process ND
    No biological Data available
    more info
     
    brain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    brain morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    cartilage development ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex development ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    chaperone-mediated protein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chaperone-mediated protein complex assembly ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    detection of mechanical stimulus involved in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    detection of mechanical stimulus involved in sensory perception of sound ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    face development IEA
    Inferred from Electronic Annotation
    more info
     
    face development ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    fat cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    hippocampus development ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    leptin-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    negative regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    negative regulation of actin filament polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of actin filament polymerization ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    negative regulation of appetite by leptin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of appetite by leptin-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    negative regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of blood pressure ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor cell maintenance ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of multicellular organism growth ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    protein folding IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cilium beat frequency involved in ciliary motility IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cilium beat frequency involved in ciliary motility ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    regulation of stress fiber assembly IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of stress fiber assembly ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    response to leptin ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    sensory perception of smell IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of smell ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    social behavior IEA
    Inferred from Electronic Annotation
    more info
     
    social behavior ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    spermatid development ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    striatum development IEA
    Inferred from Electronic Annotation
    more info
     
    striatum development ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    vasodilation IEA
    Inferred from Electronic Annotation
    more info
     
    vasodilation ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    kinociliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    kinociliary basal body ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    motile cilium ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
    PubMed 

    General protein information

    Preferred Names
    McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
    Names
    McKusick-Kaufman syndrome protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001008353.2NP_001008354.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

      See identical proteins and their annotated locations for NP_001008354.1

      Status: REVIEWED

      Source sequence(s)
      BC083863, CB586701
      UniProtKB/TrEMBL
      Q5XI30
      Related
      ENSRNOP00000009540.3, ENSRNOT00000009540.5
      Conserved Domains (2) summary
      pfam00118
      Location:29569
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:32456
      chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...

    RefSeqs of Annotated Genomes: Rattus norvegicus Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference Rnor_6.0 Primary Assembly

    Genomic

    1. NC_005102.4 Reference Rnor_6.0 Primary Assembly

      Range
      129866542..129885213 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_008762254.2XP_008760476.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform X1

      See identical proteins and their annotated locations for XP_008760476.1

      UniProtKB/TrEMBL
      Q5XI30
      Conserved Domains (2) summary
      pfam00118
      Location:29569
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:32456
      chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...

    Alternate Rn_Celera

    Genomic

    1. AC_000071.1 Alternate Rn_Celera

      Range
      122920784..122939041 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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