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FLASH GENE
Symbol TMEM67 contributors: mct/pgu - updated : 30-09-2013
HGNC name transmembrane protein 67
HGNC id 28396
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal extracellular domain of meckelin is particularly rich in cysteine residues
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text localized both to the primary cilium and to the plasma membrane in ciliated cell-lines and primary cells
    basic FUNCTION
  • mediating a fundamental developmental stage of ciliary formation and epithelial morphogenesis
  • implicated in mediating primary ciliary function
  • possible role for the extracellular domain of meckelin in mediating intracellular transport from the ER
  • required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication
  • is required for endoplasmic reticulum-associated degradation of surfactant protein C
  • having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis
  • important role for meckelin in intraciliary transport of phototransduction molecules and their effects on subsequent outer segment morphogenesis and maintenance
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component formed a complex with Meckelin (TMEM67)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ER lumenal domain of MKS3 interacted with a complex that included mutant SFTPC and associated chaperones, whereas the region predicted to encode the transmembrane domains of MKS3 interacted with cytosolic VCP
  • interacting with MKS1, a soluble protein
  • TMEM67 forms a functional complex with FLNA that is disrupted in MKS3 and causes defects in neuronal migration and Wnt signalling
  • cell & other
    REGULATION
    Other up-regulated by ER stress
    ASSOCIATED DISORDERS
    corresponding disease(s) MKS3 , JBTS6 , NPHP11 , COACH3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS