PKHD1
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Official Full Name
polycystic kidney and hepatic disease 1 (autosomal recessive) -
Overview
Fibrocystin is a type I membrane protein that undergoes regulated proteolysis. Many proteolytic cleavages occur on the ectodomain whereas at least one cleavage occurs on the cytoplasmic portion of Fibrocystin. The latter gener- ates a C-terminal intracellular fragment that localizes to the nucleus. This proteolysis requires activation of protein kinase C (PKC) and release of intra- cellular calcium. Fibrocystin is expressed in the cilia of the bile duct epitheli- um and leads to abnormalities in the rubric of the ductal plate malformation. The intracellular C-terminus of Fibrocystin interacts with calcium modulating cyclophilin ligand (CAML), a protein implicated in calcium signaling. Fibro- cystin may participate in the mediation of intracellular calcium in the distal nephron in a manner similar to PKD1 and PKD2. Mutations in the PKHD1 gene, which encodes Fibrocystin, result in autosomal recessive polycystic kidney disease (ARPKD), a severe form of polycystic kidney disease characterized by enlarged kidneys and congenital hepatic fibrosis. -
Synonyms
PKHD1;polycystic kidney and hepatic disease 1 (autosomal recessive);FCYT;ARPKD;TIGM1;fibrocystin;tigmin;polyductin;TIG multiple domains 1;polycystic kidney and hepatic disease 1 protein;Fibrocystin;Polycystic kidney and hepatic disease 1 protein;Polyductin;Tigmin
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Involved Pathway
PKHD1 involved in several pathways and played different roles in them. We selected most pathways PKHD1 participated on our site, such as , which may be useful for your reference. Also, other proteins which involved in the same pathway with PKHD1 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
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Protein Function
PKHD1 has several biochemical functions, for example, . Some of the functions are cooperated with other proteins, some of the functions could acted by PKHD1 itself. We selected most functions PKHD1 had, and list some proteins which have the same functions with PKHD1. You can find most of the proteins on our site.
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Interacting Protein
PKHD1 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with PKHD1 here. Most of them are supplied by our site. Hope this information will be useful for your research of PKHD1.
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References
- Bakeberg, JL; Tammachote, R; et al. Epitope-Tagged Pkhd1 Tracks the Processing, Secretion, and Localization of Fibrocystin. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 22:2266-2277(2011).
- Togawa, H; Nakanishi, K; et al. Epithelial-to-mesenchymal transition in cyst lining epithelial cells in an orthologous PCK rat model of autosomal-recessive polycystic kidney disease. AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY 300:F511-F520(2011).
