Sequence Detail

ID/Version

E9PZ36 (UniProt | EBI)

Last sequence update: 2011-04-05
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Fibrocystin {ECO:0000305};AltName: Full=Polycystic kidney and hepatic disease 1 protein;AltName: Full=Polyductin;Flags: Precursor;

Provider

SWISS-PROT

Sequence

Polypeptide 4059 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Pkhd1	polycystic kidney and hepatic disease 1	77	103	2	20

Sequence references in MGI

J:102836 Nagano J, et al., Fibrocystin interacts with CAML, a protein involved in Ca2+ signaling. Biochem Biophys Res Commun. 2005 Dec 16;338(2):880-9
J:131370 Gallagher AR, et al., Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. Am J Pathol. 2008 Feb;172(2):417-29
J:143394 Kim I, et al., Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol. 2008 Mar;19(3):455-68
J:167782 Hu B, et al., Cystogenesis in ARPKD results from increased apoptosis in collecting duct epithelial cells of Pkhd1 mutant kidneys. Exp Cell Res. 2011 Jan 15;317(2):173-87
J:185863 Nishio S, et al., Loss of oriented cell division does not initiate cyst formation. J Am Soc Nephrol. 2010 Feb;21(2):295-302
J:186064 Williams SS, et al., Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2008 May;23(5):733-41
J:187735 Bakeberg JL, et al., Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin. J Am Soc Nephrol. 2011 Dec;22(12):2266-77
J:215153 Follit JA, et al., Arf4 is required for Mammalian development but dispensable for ciliary assembly. PLoS Genet. 2014 Feb;10(2):e1004170
J:246963 Badgandi HB, et al., Tubby family proteins are adapters for ciliary trafficking of integral membrane proteins. J Cell Biol. 2017 Mar 06;216(3):743-760
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89
J:296099 Follit JA, et al., The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence. J Cell Biol. 2010 Jan 11;188(1):21-8
J:296109 Outeda P, et al., A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism. Kidney Int. 2017 Nov;92(5):1130-1144
J:296131 Hiesberger T, et al., Proteolytic cleavage and nuclear translocation of fibrocystin is regulated by intracellular Ca2+ and activation of protein kinase C. J Biol Chem. 2006 Nov 10;281(45):34357-64
J:296158 Kaimori JY, et al., Polyductin undergoes notch-like processing and regulated release from primary cilia. Hum Mol Genet. 2007 Apr 15;16(8):942-56