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    Mkks McKusick-Kaufman syndrome [ Mus musculus (house mouse) ]

    Gene ID: 59030, updated on 5-Mar-2019

    Summary

    Official Symbol
    Mkksprovided by MGI
    Official Full Name
    McKusick-Kaufman syndromeprovided by MGI
    Primary source
    MGI:MGI:1891836
    See related
    Ensembl:ENSMUSG00000027274
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Bbs6; AI463362; AI957237; 1300013E18Rik
    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. Alternatively spliced transcripts encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
    Expression
    Ubiquitous expression in heart adult (RPKM 8.1), bladder adult (RPKM 6.4) and 28 other tissues See more
    Orthologs

    Genomic context

    See Mkks in Genome Data Viewer
    Location:
    2; 2 F3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 2 NC_000068.7 (136873780..136891505, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (136699516..136717142, complement)

    Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39943 Neighboring gene predicted gene, 46767 Neighboring gene SLX4 interacting protein Neighboring gene predicted gene, 38479 Neighboring gene jagged 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

    Markers

    Homology

    Clone Names

    • MGC143766

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II repressing transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    unfolded protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    artery smooth muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    brain morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chaperone-mediated protein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chaperone-mediated protein complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    detection of mechanical stimulus involved in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    face development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fat cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    hippocampus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    leptin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of actin filament polymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of appetite by leptin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of blood pressure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    non-motile cilium assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein folding IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cilium beat frequency involved in ciliary motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to leptin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sensory perception of smell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    social behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    striatum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vasodilation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    kinociliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    kinociliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    motile cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
    Names
    McKusick-Kaufman syndrome protein
    McKusick-Kaufman syndrome protein; MKKS protein
    protein Bbs6 homolog

    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_001141946.1NP_001135418.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform 1

      See identical proteins and their annotated locations for NP_001135418.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      BC080765, BY735964
      Consensus CDS
      CCDS16794.1
      UniProtKB/Swiss-Prot
      Q9JI70
      Related
      ENSMUSP00000028730.6, ENSMUST00000028730.12
      Conserved Domains (2) summary
      pfam00118
      Location:29569
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:32469
      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 ...
    2. NM_001286981.1NP_001273910.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform 2

      See identical proteins and their annotated locations for NP_001273910.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame segment in the coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AI662260, AK004987, AK008406, BY735964, CJ157733
      UniProtKB/TrEMBL
      Q9DBF3
      Conserved Domains (2) summary
      pfam00118
      Location:29501
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:32401
      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 ...
    3. NM_001286983.1NP_001273912.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon, which results in a downstream start codon compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC100336, BY735964, CJ157733
      Conserved Domains (1) summary
      cl02777
      Location:373
      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 ...
    4. NM_021527.2NP_067502.2  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform 1

      See identical proteins and their annotated locations for NP_067502.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC080765, BY735964, CJ157733
      Consensus CDS
      CCDS16794.1
      UniProtKB/Swiss-Prot
      Q9JI70
      Related
      ENSMUSP00000105716.2, ENSMUST00000110089.8
      Conserved Domains (2) summary
      pfam00118
      Location:29569
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:32469
      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: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000068.7 Reference GRCm38.p4 C57BL/6J

      Range
      136873780..136891505 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006499970.1XP_006500033.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform X1

      See identical proteins and their annotated locations for XP_006500033.1

      UniProtKB/Swiss-Prot
      Q9JI70
      Conserved Domains (2) summary
      pfam00118
      Location:29569
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:32469
      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 ...
    2. XM_011239721.1XP_011238023.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform X1

      See identical proteins and their annotated locations for XP_011238023.1

      UniProtKB/Swiss-Prot
      Q9JI70
      Conserved Domains (2) summary
      pfam00118
      Location:29569
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:32469
      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 ...
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