polycystin-1; autosomal dominant polycystic kidney disease 1 protein (PKD1)

Function

• may be an ion-channel regulator
• PKD1 & PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis
• involved in adhesive protein-protein & protein-carbohydrate interactions
• interacts with PKD2
• PKD1 requires the presence of PKD2 for stable expression

Structure

• the LDL-receptor class A domain is atypical; the potential Ca+2-binding site is missing
• belongs to the polycystin family
• contains 1 C-type lectin domain
• contains 1 GPS domain
• contains 1 LDL-receptor class A domain
• contains 6 LRR repeats (leucine-rich repeats)
• contains 17 PKD domains
• contains 1 PLAT domain
• contains 1 REJ domain
• contains 1 WSC domain

Compartment

membrane

Alternative splicing

named isoforms=3

Pathology

• defects in PKD1 are the cause of autosomal-dominant polycystic kidney disease type 1

More general terms

• transmembrane 11e protein
• polycystin
• phosphoprotein
• leucine-rich repeat-containing protein (LRRC)

Additional terms

• adult polycystic kidney disease; autosomal dominant polycystic kidney disease
• polycystic kidney disease protein 1-like 1; polycystin-1L1; PC1-like 1 protein (PKD1L1)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5310
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5310
• OMIM: https://mirror.omim.org/entry/173900
• OMIM: https://mirror.omim.org/entry/601313
• UniProt: http://www.uniprot.org/uniprot/P98161.html