PKD1

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Polycystic kidney disease 1 (autosomal dominant)
PDB rendering based on 1b4r.
Available structures: 1b4r
Identifiers
Symbol(s)	PKD1; PBP
External IDs	OMIM: 601313 MGI: 97603 HomoloGene: 250
Gene ontology Molecular Function: • molecular_function • protein binding • sugar binding Cellular Component: • cellular_component • integral to plasma membrane • membrane • integral to membrane Biological Process: • homophilic cell adhesion • calcium-independent cell-matrix adhesion • neuropeptide signaling pathway • biological_process • anatomical structure morphogenesis
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	5310	18763
Ensembl	ENSG00000008710	ENSMUSG00000032855
Uniprot	P98161	n/a
Refseq	NM_000296 (mRNA) NP_000287 (protein)	NM_013630 (mRNA) NP_038658 (protein)
Location	Chr 16: 2.08 - 2.13 Mb	Chr 17: 24.28 - 24.32 Mb
Pubmed search	[1]	[2]

Polycystic kidney disease 1 (autosomal dominant), also known as PKD1, is a human gene.

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It may function as an integral membrane protein involved in cell-cell/matrix interactions, and may modulate intracellular calcium homoeostasis and other signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene have been associated with autosomal dominant polycystic kidney disease. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described.^[1]

[edit] See also

• TRPP

[edit] References

[edit] Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.