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    Mks1 Meckel syndrome, type 1 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 32200, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mks1provided by FlyBase
    Official Full Name
    Meckel syndrome, type 1provided by FlyBase
    Primary source
    FLYBASE:FBgn0030395
    Locus tag
    Dmel_CG15730
    See related
    AllianceGenome:FB:FBgn0030395
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    CG15730; Dmel\CG15730; dMks1; mks1; MKS1
    Summary
    Involved in axoneme assembly; ciliary transition zone assembly; and non-motile cilium assembly. Located in ciliary cap and ciliary transition zone. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1. Orthologous to human MKS1 (MKS transition zone complex subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Mks1 in Genome Data Viewer
    Location:
    11A12-11A12; 1-38 cM
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) X NC_004354.4 (12494395..12496597, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) X NC_004354.3 (12388428..12390630, complement)

    Chromosome X - NC_004354.4Genomic Context describing neighboring genes Neighboring gene Cuticular protein 11A Neighboring gene Larval serum protein 1 alpha Neighboring gene meduse Neighboring gene heavyweight Neighboring gene Cuticular protein 11B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Drosophila transition fibers are essential for IFT-dependent ciliary elongation but not basal body docking and ciliary budding. Hou Y, et al. Curr Biol, 2023 Feb 27. PMID 36669498
    2. Cep131-Cep162 and Cby-Fam92 complexes cooperatively maintain Cep290 at the basal body and contribute to ciliogenesis initiation. Wu Z, et al. PLoS Biol, 2024 Mar. PMID 38442096, Free PMC Article
    3. Drosophila PLP assembles pericentriolar clouds that promote centriole stability, cohesion and MT nucleation. Roque H, et al. PLoS Genet, 2018 Feb. PMID 29425198, Free PMC Article
    4. Dzip1 and Fam92 form a ciliary transition zone complex with cell type specific roles in Drosophila. Lapart JA, et al. Elife, 2019 Dec 10. PMID 31821146, Free PMC Article
    5. Phosphatidylinositol 4,5-bisphosphate regulates cilium transition zone maturation in Drosophila melanogaster. Gupta A, et al. J Cell Sci, 2018 Aug 17. PMID 30054387

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Process Evidence Code Pubs
    involved_in axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ciliary transition zone assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MKS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary cap IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    meckel syndrome, type 1
    Names
    CG15730-PA
    Mks1-PA
    meckel syndrome, type 1 homologue

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_004354.4 Reference assembly

      Range
      12494395..12496597 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_132576.2 → NP_572804.1  meckel syndrome, type 1 [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_572804.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q8T8W8, Q9VYM3
      Related
      FBpp0073500
      Conserved Domains (1) summary
      pfam07162
      Location:442 → 613
      B9-C2; Ciliary basal body-associated, B9 protein
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9VYM3.1 Q9VYM3

    Gene LinkOut

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