Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MKS1 contributors: npt/mct/pgu - updated : 24-08-2017
HGNC name Meckel syndrome, type 1
HGNC id 7121
PROTEIN
PHYSICAL PROPERTIES globular
STRUCTURE
motifs/domains
  • a conserved B9 domain
    • HOMOLOGY
    interspecies homolog to murine Mks1
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • localize to transition zones/basal bodies of sensory cilia
    • basic FUNCTION
  • mediating a fundamental developmental stage of ciliary formation and epithelial morphogenesis
  • function redundantly with the nephrocystins to regulate the formation and/or maintenance of cilia and dendrites in the amphid and phasmid ciliated sensory neurons
  • required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication
  • protein associated with the base of the cilium in vertebrates and nematodes
  • having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis
  • critical for ciliogenesis, spheroid formation, and Hh signaling
  • play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels
  • TMEM231 and B9D1 are essential for each other and other complex components such as MKS1 to localize to the transition zone
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the flagellar apparatus basal body proteome
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with meckelin, a putative receptor
  • functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (B9D1, B9D2) proteins
  • MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content, through an ARL13B-dependent mechanism
  • genetic interaction of MKS1 with components of intraflagellar transport (IFT) machinery suggests that the transition zone complex facilitates IFT to promote cilium assembly and structure
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MKS1 , BBS13 , JBTS28
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS