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    MKKS McKusick-Kaufman syndrome [ Homo sapiens (human) ]

    Gene ID: 8195, updated on 13-Feb-2019

    Summary

    Official Symbol
    MKKSprovided by HGNC
    Official Full Name
    McKusick-Kaufman syndromeprovided by HGNC
    Primary source
    HGNC:HGNC:7108
    See related
    Ensembl:ENSG00000125863 MIM:604896
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KMS; MKS; BBS6; HMCS
    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. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
    Expression
    Ubiquitous expression in kidney (RPKM 13.4), testis (RPKM 12.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See MKKS in Genome Data Viewer
    Location:
    20p12.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (10404780..10434239, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (10385428..10414887, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a pseudogene 6 Neighboring gene SDA1 domain containing 1 pseudogene 2 Neighboring gene SLX4 interacting protein Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 pseudogene Neighboring gene microRNA 6870 Neighboring gene jagged canonical Notch ligand 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • BBSome-mediated cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
      BBSome-mediated cargo-targeting to cilium, organism-specific biosystemThe BBSome is a stable complex consisting of 7 Bardet-Biedl proteins (BBS1, 2, 4, 5, 7, 8 and 9) and BBIP10 that has roles in promoting IFT and trafficking proteins to the cilum (Blacque et al, 2004;...
    • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
      Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
    • Cilium Assembly, organism-specific biosystem (from REACTOME)
      Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II repressing transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
     
    brain morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chaperone-mediated protein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    convergent extension involved in gastrulation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    detection of mechanical stimulus involved in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    face development IEA
    Inferred from Electronic Annotation
    more info
     
    fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    gonad development TAS
    Traceable Author Statement
    more info
    PubMed 
    heart development TAS
    Traceable Author Statement
    more info
    PubMed 
    heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hippocampus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    melanosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of actin filament polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of appetite by leptin-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor cell maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pigment granule aggregation in cell center ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    protein folding IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cilium beat frequency involved in ciliary motility ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of stress fiber assembly IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of smell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    social behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    striatum development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vasodilation IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    centrosome IDA
    Inferred from Direct Assay
    more info
     
    ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    kinociliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
    Names
    Bardet-Biedl syndrome 6 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.

    Genomic

    1. NG_009109.2 RefSeqGene

      Range
      4980..34439
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018848.3NP_061336.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

      See identical proteins and their annotated locations for NP_061336.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF221993, AK296439, AL034430
      Consensus CDS
      CCDS13111.1
      UniProtKB/Swiss-Prot
      Q9NPJ1
      UniProtKB/TrEMBL
      B7Z3W9
      Related
      ENSP00000382008.2, ENST00000399054.6
      Conserved Domains (2) summary
      pfam00118
      Location:29569
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:32476
      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_170784.2NP_740754.1  McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

      See identical proteins and their annotated locations for NP_740754.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF221992, AK296439, AL034430, DA209180
      Consensus CDS
      CCDS13111.1
      UniProtKB/Swiss-Prot
      Q9NPJ1
      UniProtKB/TrEMBL
      B7Z3W9
      Related
      ENSP00000246062.4, ENST00000347364.7
      Conserved Domains (2) summary
      pfam00118
      Location:29569
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:32476
      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 ...

    RNA

    1. NR_072977.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AK296439, DA209180

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

      Range
      10404780..10434239 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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