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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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