MGP Database

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MGP005342

Ontology/Pathway Information

Entrez Gene ID54903
Gene NameMeckel syndrome, type 1
Gene Symbol MKS1
SpeciesHomo sapiens
Gene Ontology (GO Annotations)
GO IDSourceTypeDescription
GO:0005814 IEA:EnsemblCcentriole
GO:0005813 IDA:UniProtKBCcentrosome
GO:0036064 IDA:UniProtKBCciliary basal body
GO:0005737 IDA:UniProtKBCcytoplasm
GO:0016020 IEA:EnsemblCmembrane
GO:0036038 ISS:UniProtKBCTCTN-B9D complex
GO:0048754 IEA:EnsemblPbranching morphogenesis of an epithelial tube
GO:0042384 IMP:UniProtKBPcilium assembly
GO:0060271 ISS:UniProtKBPcilium morphogenesis
REACTOME Pathway Links
REACTOME Pathway IDDescription
REACT_267965Anchoring of the basal body to the plasma membrane
REACT_268265Assembly of the primary cilium
REACT_268323Hedgehog 'off' state
REACT_264135Organelle biogenesis and maintenance
REACT_264508Signaling by Hedgehog
REACT_111102Signal Transduction
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