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FLASH GENE
Symbol PKHD1 contributors: mct - updated : 16-01-2009
HGNC name polycystic kidney and hepatic disease 1 (autosomal recessive)
HGNC id 9016
Corresponding disease
ARPKD polycystic kidney disease, infantile type with hepatic fibrosis 1
Location 6p12.2      Physical location : 51.480.144 - 51.952.423
Synonym name
  • polyductin
  • tigmin
  • TIG multiple domains 1
  • fibrocystin
  • Synonym symbol(s) FCYT, TIGM1, FPC, FLJ46150, DKFZp686C01112
    DNA
    TYPE functioning gene
    STRUCTURE 472.30 kb     67 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    TFAP2BL1 6p12.3 transcription factor AP-2 beta (activating enhancer binding protein 2 beta)-like 1 TFAP2B 6p12 transcription factor AP-2 beta (activating enhancer binding protein 2 beta) RPS17L4 6p12.3 ribosomal protein S17-like 4 FTHP1 6p21.1-p12 ferritin, heavy polypeptide pseudogene 1 LOC389397 6 hypothetical gene supported by BC000383; BC004432; NM_152857 LOC391926 6 similar to 40S ribosomal protein S15a PKHD1 6p12.2 polycystic kidney and hepatic disease 1 (autosomal recessive) IL17 2q31 interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8) IL17F 6p12 interleukin 17F SLC25A20P 6p12 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene MCM3 6p12 MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) C6orf33 6p12.1 chromosome 6 open reading frame 33 EFHC1 6p12.1 EF-hand domain (C-terminal) containing 1 TRAM2 6p21.3 translocation associated membrane protein 2 TMEM14A 6p12.3 transmembrane protein 14A LOC391927 6 similar to class-alpha glutathione S-transferase LOC391928 6 similar to Glutathione S-transferase A1 (GTH1) (HA subunit 1) (GST-epsilon) (GSTA1-1) (GST class-alpha) GSTA2 6p12.2 glutathione S-transferase A2 LOC391929 6 similar to glutathione transferase (EC 2.5.1.18) alpha-3 [similarity] - human
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    71 polyA site 14000 - 3858 - 2002 11898128
    also called polyductin M
    61 splicing 11604 371 3396 - 2010 20554582
    tigmin
    67 splicing 16235 447 4074 adult kidney, liver, and pancreas 2010 20554582
  • fibrocystin (polyductin S)
  • a single transmembrane domain and an intracellular C-terminus
  • involvement in cilia function
  • cytoplasmic C-terminal region with 192 AAs
  • receptor-like protein
  • in addition, cleavage and release of its ectodomain into the renal tubular/duct lumen
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     gallbladder   lowly Homo sapiens
     mouthtongue   
    Endocrinepancreas   moderately
    Reproductivemale systemtestis   
    Urinarykidneytubulecollecting duct predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveepithelial cell Homo sapiens
    Urinaryduct cell Homo sapiens
    Urinarytubular cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • signal peptide
  • multiple copies (6 to 7) of a domain TIG/IPT (immunoglobulin-like fold shared by plexing and transcription factors)
  • TMEM2 homology domain
  • DKFZ homology domain
  • transmembrane domain
  • C terminal EF-hand domain (to associate with a calcium ion), and a large extracellular domain that is tethered to the C-terminal stalk by disulfide bridges, cleaved at a probable proprotein convertase site, and with a PKD2 -binding domain
  • HOMOLOGY
    interspecies ortholog to rattus Arpkd
    Homologene
    FAMILY
    CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • type I membrane protein, ciliary localization, in primary apical cilia
  • localized in the primary cilia of kidney tubular epithelia cells and cholangiocytes of bile ducts
  • endogenous form localizes to the centrosome and mitotic spindle in human renal epithelial cells
  • basic FUNCTION
  • may be a receptor protein that acts in collecting-duct and biliary differentiation
  • functional and/or structural component of primary cilia in kidney tubular cells
  • novel function in centrosome duplication and mitotic spindle assembly during cell division and mitotic defects due to its dysfunction contribute to cystogenesis in ARPKD
  • may form a signaling complex at the spindle pole with other cystogenic proteins and modulate mitotic spindle orientation and bipolarity during mitosis, in addition to their role in primary cilia in fully differentiated cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • interacts with CAMLG, a protein with an intracellular distribution that is similar to that of PKD2
  • interacting with PKD1, PKD2 (PKD1 locus could potentially be important modifiers of ARPKD disease severity)
  • interaction with PI3K/Akt pathway which is involved in apoptotic function in PKHD1-silenced cells, and PI3K/Akt inhibition correlates with upregulation of NFKB activity
  • cell & other
    REGULATION
    Other regulated by TCF2 (C-terminal domain of TCF2 is required for the activation of PKHD1)
    ASSOCIATED DISORDERS
    corresponding disease(s) ARPKD
    related resource Autosomal Recessive Polycystic Kidney Disease
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    caused by mutation of TCF2 produce kidney cysts
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS