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PMID:12482949

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Citation

Qian, F, Boletta, A, Bhunia, AK, Xu, H, Liu, L, Ahrabi, AK, Watnick, TJ, Zhou, F and Germino, GG (2002) Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. Proc. Natl. Acad. Sci. U.S.A. 99:16981-6

Abstract

Polycystin-1 plays an essential role in renal tubular morphogenesis, and disruption of its function causes cystogenesis in human autosomal-dominant polycystic kidney disease (ADPKD). We demonstrated that polycystin-1 undergoes cleavage at G protein coupled receptor proteolytic site in a process that requires the receptor for egg jelly domain. Most of the N-terminal fragment remains tethered at the cell surface, although a small amount is secreted. PKD1-associated mutations in the receptor for egg jelly domain disrupt cleavage, abolish the ability of polycystin-1 to activate signal transducer and activator of transcription-1, and induce tubulogenesis in vitro. We conclude that the cleavage of polycystin-1 is likely essential for its biologic activity.

Links

PubMed PMC139255 Online version:10.1073/pnas.252484899

Keywords

Amino Acid Sequence; Humans; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Polycystic Kidney, Autosomal Dominant/genetics; Proteins/chemistry; Proteins/metabolism; Receptors, Cell Surface/chemistry; Receptors, Cell Surface/physiology; Signal Transduction; TRPP Cation Channels

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:PKD1

involved_in

GO:0048754: branching morphogenesis of an epithelial tube

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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