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    mkks MKKS centrosomal shuttling protein [ Danio rerio (zebrafish) ]

    Gene ID: 393134, updated on 9-Dec-2024

    Summary

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    Official Symbol
    mkksprovided by ZNC
    Official Full Name
    MKKS centrosomal shuttling proteinprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-040426-757
    See related
    Ensembl:ENSDARG00000016139 AllianceGenome:ZFIN:ZDB-GENE-040426-757
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    bbs6; zgc:55608
    Summary
    Predicted to enable ATP binding activity and unfolded protein binding activity. Involved in cilium assembly; heart looping; and melanosome transport. Acts upstream of or within several processes, including Kupffer's vesicle development; convergent extension involved in gastrulation; and pigment granule aggregation in cell center. Located in 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 (MKKS centrosomal shuttling protein). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See mkks in Genome Data Viewer
    Location:
    chromosome: 13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 13 NC_007124.7 (35472803..35481989)
    105 previous assembly GRCz10 (GCF_000002035.5) 13 NC_007124.6 (35346955..35356161)

    Chromosome 13 - NC_007124.7Genomic Context describing neighboring genes Neighboring gene jagged canonical Notch ligand 1b Neighboring gene SLX4 interacting protein Neighboring gene uncharacterized LOC137487424 Neighboring gene steroid-5-alpha-reductase, alpha polypeptide 2b Neighboring gene mediator of cell motility 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. Kim JC, et al. J Cell Sci, 2005 Mar 1. PMID 15731008
    2. Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model. Castro-Sánchez S, et al. Sci Rep, 2019 Sep 10. PMID 31506453, Free PMC Article
    3. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Stoetzel C, et al. Am J Hum Genet, 2007 Jan. PMID 17160889, Free PMC Article
    4. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Stoetzel C, et al. Nat Genet, 2006 May. PMID 16582908
    5. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Blacque OE, et al. Cell Mol Life Sci, 2006 Sep. PMID 16909204, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC55608

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unfolded protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within Kupffer's vesicle development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within Kupffer's vesicle development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within camera-type eye development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within convergent extension IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within convergent extension IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within convergent extension involved in gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of left/right symmetry IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart looping IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heart looping IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within inner ear development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within intracellular transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within melanosome transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within melanosome transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in melanosome transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within pigment granule aggregation in cell center IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein folding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    molecular chaperone MKKS
    Names
    Bardet-Biedl syndrome 6
    McKusick-Kaufman syndrome

    NCBI Reference Sequences (RefSeq)

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    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_200165.1 → NP_956459.1  molecular chaperone MKKS

      See identical proteins and their annotated locations for NP_956459.1

      Status: PROVISIONAL

      Source sequence(s)
      BC045401
      UniProtKB/TrEMBL
      A0A8M9QJK7, F1QCQ8, Q7ZVV0
      Related
      ENSDARP00000024495.5, ENSDART00000011583.6
      Conserved Domains (2) summary
      pfam00118
      Location:29 → 562
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
      cl02777
      Location:23 → 559
      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: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007124.7 Reference GRCz11 Primary Assembly

      Range
      35472803..35481989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021480540.2 → XP_021336215.1  molecular chaperone MKKS isoform X1

      UniProtKB/TrEMBL
      A0A8M9QJK7, A0A8M9QNB5, F1QCQ8
      Conserved Domains (1) summary
      pfam00118
      Location:29 → 565
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
    Nucleotide Protein Strain
    Heading Accession and Version

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