PKD1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

PKD1

Aliases

PBP, PC1, Pc-1, TRPP1

Entrez Gene ID

5310

Gene Name

Polycystin 1, transient receptor potential channel interacting

Chromosomal Location

16p13.3

HGNC ID

HGNC:9008

Summary

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 is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. 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. [provided by RefSeq, Oct 2008]

RefSeq DNA

NG_008617.1

RefSeq mRNA

NM_001009944.2, NM_000296.4, NM_001009944.3

e!Ensembl

Gene	ENSG00000008710
Transcript	ENST00000262304, ENST00000423118, ENST00000561668, ENST00000487932, ENST00000562425, ENST00000567946, ENST00000568591, ENST00000483024, ENST00000488185
Protein	ENSP00000262304, ENSP00000399501, ENSP00000461391, ENSP00000457132, ENSP00000455753, ENSP00000457984, ENSP00000457162, ENSP00000456670, ENSP00000456672

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
				Lys121Gln	27785750

Gene Ontology (GO)

Show/Hide all(40 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007156	Biological process	Homophilic cell adhesion via plasma membrane adhesion molecules	TAS	10861291
GO:0007160	Biological process	Cell-matrix adhesion	TAS	7663510
GO:0007161	Biological process	Calcium-independent cell-matrix adhesion	TAS	10861291
GO:0007507	Biological process	Heart development	IEP	11891195
GO:0009653	Biological process	Anatomical structure morphogenesis	TAS	9326937
GO:0021510	Biological process	Spinal cord development	IEP	11891195
GO:0021915	Biological process	Neural tube development	IEP	11891195
GO:0043588	Biological process	Skin development	IEP	11891195
GO:0045737	Biological process	Positive regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	16311606
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	16311606
GO:0048565	Biological process	Digestive tract development	IEP	11891195
GO:0048754	Biological process	Branching morphogenesis of an epithelial tube	IDA	12482949
GO:0048806	Biological process	Genitalia development	IEP	11891195
GO:0051216	Biological process	Cartilage development	IEP	11891195
GO:0051290	Biological process	Protein heterotetramerization	IDA	30093605
GO:0060428	Biological process	Lung epithelium development	IEP	11891195
GO:0061136	Biological process	Regulation of proteasomal protein catabolic process	IDA	23001567
GO:0072164	Biological process	Mesonephric tubule development	IEP	11891195
GO:0072177	Biological process	Mesonephric duct development	IEP	11891195
GO:0072205	Biological process	Metanephric collecting duct development	IEP	11891195
GO:0072218	Biological process	Metanephric ascending thin limb development	IEP	11891195
GO:0072237	Biological process	Metanephric proximal tubule development	IEP	11891195
GO:0072287	Biological process	Metanephric distal tubule morphogenesis	IEP	11891195
GO:0198738	Biological process	Cell-cell signaling by wnt	IDA	27214281
GO:2000045	Biological process	Regulation of G1/S transition of mitotic cell cycle	IDA	16311606
GO:0005886	Cellular component	Plasma membrane	IDA	23001567
GO:0005887	Cellular component	Integral component of plasma membrane	IDA	30093605
GO:0005929	Cellular component	Cilium	IDA	28154160
GO:0016021	Cellular component	Integral component of membrane	NAS	10097141
GO:0016323	Cellular component	Basolateral plasma membrane	IDA	10770959
GO:0034703	Cellular component	Cation channel complex	IDA	30093605
GO:0034704	Cellular component	Calcium channel complex	IDA	27214281
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867
GO:0070062	Cellular component	Extracellular exosome	IDA	15326289
GO:0005262	Molecular function	Calcium channel activity	IDA	27214281
GO:0005515	Molecular function	Protein binding	IPI	10097141, 15563610, 19556541, 20168298, 20856870, 24939912
GO:0019901	Molecular function	Protein kinase binding	IPI	17980165
GO:0019904	Molecular function	Protein domain specific binding	IPI	9171830
GO:0042813	Molecular function	Wnt-activated receptor activity	IDA	27214281
GO:0044325	Molecular function	Ion channel binding	IPI	9192675

Protein Information

Protein Name

Polycystin-1, autosomal dominant polycystic kidney disease 1 protein, polycystic kidney disease 1 (autosomal dominant), polycystic kidney disease-associated protein, transient receptor potential cation channel, subfamily P, member 1

Function

Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Both PKD1 and PKD2 are required for channel activity (PubMed:27214281). Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions.

Refseq Proteins

NP_001009944.2, NP_000287.4, NP_001009944.3

UniProt

P98161

PDB

1B4R, 6A70

Pfam

Pfam Accession	Pfam ID
PF00059	Lectin_C
PF13855	LRR_8
PF00801	PKD
PF08016	PKD_channel
PF01477	PLAT
PF02010	REJ
PF01822	WSC