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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
    Physical map
    LOC392896 7 similar to Splicing factor, arginine/serine-rich, 46kD PRO1866 TENS1 7p12.3 tensin-like SH2 domain-containing 1 MRPL42P4 7p12.3 tensin-like SH2 domain-containing 1 LOC346472 7p12.3 similar to Splicing factor, arginine/serine-rich, 46kD TENS1 7p12.3 tensin-like SH2 domain-containing 1 MGC16075 7p12.3 hypothetical protein MGC16075 PKD1L1 7p13-p12 polycystic kidney disease 1 like 1 FLJ21075 7p12.3 hypothetical protein FLJ21075 HUS1 7p13-p12 HUS1 checkpoint homolog (S. pombe) MGC33329 7p12.3 hypothetical protein MGC33329 LOC136288 7p12.3 hypothetical protein LOC136288 UPP1 7p12.3 uridine phosphorylase 1 LOC393062 7 similar to Mtr3 (mRNA transport regulator 3)-homolog; Mtr3 (mRNA transport regulator 3)-homolog (yeast) MGC16075 7p12.3 hypothetical protein MGC16075 PKD1L1 7p13-p12 polycystic kidney disease 1 like 1 FLJ21075 7p12.3 hypothetical protein FLJ21075 ABCA13 7p12.3 ATP binding cassette gene, sub-family A (ABC1), member 13 LOC393063 7 similar to 60S ribosomal protein L32 C7orf33 7q36.1 chromosome 7 open reading frame 33 LOC393064 7 similar to Huntingtin interacting protein K HUS1 7p13-p12 HUS1 checkpoint homolog (S. pombe) CUL1 7q35-q36 cullin 1 MGC33329 7p12.3 hypothetical protein MGC33329 LOC136288 7p12.3 hypothetical protein LOC136288 UPP1 7p12.3 uridine phosphorylase 1 LOC392834 7 similar to Enhancer of zeste homolog 2 (ENX-1) ABCA13 7p12.3 ATP binding cassette gene, sub-family A (ABC1), member 13 RNY5 7q36 RNA, Y5 small cytoplasmic (associated with Ro protein) ERP70 7q35 protein disulfide isomerase related protein (calcium-binding protein, intestinal-related) DKFZp762I137 7q36.1 hypothetical protein DKFZp762I137 LOC155054 7q36.1 hypothetical protein LOC155054 ZNF398 7q36.1 zinc finger protein 398 ZNF282 7q35-q36 zinc finger protein 282 LOC392669 7 hypothetical gene supported by BC028690 ZNF212 7q36.1 zinc finger protein 212 LOC392835 7 similar to KIAA1285 protein LOC392897 7 similar to GDP dissociation inhibitor isoform 2; GDI-2 LOC393065 7 similar to nucleophosmin 1; nucleolar phosphoprotein B23; numatrin; nucleophosmin/nucleoplasmin family, member 1 MGC26484 7p12.3 hypothetical protein MGC26484 KIAA1285 7q36.1 hypothetical protein MGC26484 FLJ31413 7q36.1 hypothetical protein FLJ31413 LOC393066 7 similar to KIAA1285 protein
    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