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FLASH GENE
Symbol PKD1L1 contributors: mct - updated : 16-11-2016
HGNC name polycystic kidney disease 1 like 1
HGNC id 18053
Corresponding disease
HTX8 abnormal left-right axis with visceral heterotaxy (situs ambiguus) 8
Location 7p12.3      Physical location : 47.814.289 - 47.988.037
Synonym name
  • polycystin 1L1
  • PC1-like 1 protein
  • Synonym symbol(s) PRO19563
    DNA
    TYPE functioning gene
    STRUCTURE 184.02 kb     57 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    57 - 9075 - 2849 - 2002 11863367
    - polyA site 2400 - - fetal and adult heart, adult testis 2002 11863367
    7 TM domains
    - polyA site 2100 - - adult testis 2002 11863367
    6 TM domains
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiensAdult
     heart     Homo sapiensFetal
    Reproductivemale systemtestis    Homo sapiensAdult
     male systemtestis    Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveLeydig cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text heart
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal extracellular region two immunoglobulin (Ig)-like polycystic kidney disease (PKD) domains,
  • one small receptor for egg jelly (REJ) domain
  • one GPS domain
  • a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain,
  • one coiled-coil domain
  • eleven putative transmembrane domains
  • a C-terminal intracellular coiled-coil (CC)
  • HOMOLOGY
    intraspecies paralog to PKD1
    Homologene
    FAMILY
  • polycystin family
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • PKD1L1 and PKD2 form a complex that functions as the nodal flow sensor in the motile cilia of the medaka Kupffer's vesicle
  • complexes with PKD2 on motile cilia and functions to establish the left-right axis
  • PKD1L1 is not required for lateral plate mesoderm (LPM) NODAL pathway activation per se, but rather to restrict NODAL to the left side downstream of nodal flow
  • can mediate a response to flow coheres with a mechanosensation model of flow sensation in which the force of fluid flow drives asymmetric gene expression in the embryo
  • involvement of PKD1L1 in the L-R patterning in vertebrates
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • PKD1L1-PKD2L1 heteromeric channel establishes the cilia as a unique calcium compartment within cells that modulates established hedgehog pathways
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PKD1Ll1 and PKD2 localise to the cilium and biochemical experiments demonstrate that they can physically interact
  • PKD1L1-PKD2L1 acts as a ciliary calcium channel controlling ciliary calcium concentration and thereby modifying SMO-activated GLI2 translocation and GLI1 expression
  • acts as an upstream genetic repressor of PKD2 (pMID: 27272319)
  • interacts through the C-terminal coiled coil (CC) domain with the C-terminal region of PKD2 in the node
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HTX8
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in a Pkd1l1-/- mouse model, approximately one-third of the homozygous mutant mice showed situs inversus (SI) without other phenotype or lesions suggestive of underlying primary ciliary dyskinesia (PCD) such as impaired mucociliary clearance or reproductive defects