PKHD1, PKHD1 ciliary IPT domain containing fibrocystin/polyductin

PKHD1, PKHD1 ciliary IPT domain containing fibrocystin/polyductin

• The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]

• Gene Synonyms (fibrocystin, PKHD1, fibrocystin/polyductin, TIG multiple domains 1, fibrocystin/polyductin complex, polycystic kidney and hepatic disease 1 (autosomal recessive), polycystic kidney and hepatic disease 1 protein, polyductin, tigmin, ARPKD, FCYT, FPC, PKD4, TIGM1,)
• NCBI Gene ID: 5314
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P08F94
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

PKHD1 ciliary IPT domain containing fibrocystin/polyductin interacts with:

• leucine rich repeat containing G protein-coupled receptor 4
  Nedd4 family interacting protein 2
  NEDD4 like E3 ubiquitin protein ligase
  proteasome 26S subunit, non-ATPase 14
  ring finger protein 123
  SMAD specific E3 ubiquitin protein ligase 1
  SMAD specific E3 ubiquitin protein ligase 2

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.