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Pkd1 - polycystin 1, transient receptor potential channel interacting Gene

Also Known as PC1; mFLJ00285

Species: Mus musculus

Gene Type: protein coding

Gene ID: 18763

About Pkd1

Chromosome 17: 24,768,808-24,815,482 forward strand.GRCm39:CM001010.3

This gene has 10 transcripts (splice variants), 194 orthologues, 10 paralogues and is associated with 131 phenotypes. Ubiquitous expression in ovary adult (RPKM 37.1), lung adult (RPKM 32.2) and 25 other tissues.

Summary

Enables Calcium Channel activity. Involved in several processes, including cytoplasmic sequestering of transcription factor; placenta development; and protein export from nucleus. Acts upstream of or within several processes, including animal organ development; circulatory system development; and receptor signaling pathway via JAK-STAT. Located in several cellular components, including Golgi apparatus; cell surface; and motile cilium. Part of polycystin complex. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and respiratory system. Used to study autosomal recessive polycystic kidney disease; hypertrophic cardiomyopathy; and polycystic kidney disease 1. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; intracranial aneurysm; and polycystic kidney disease 1. Orthologous to human PKD1 (polycystin 1, transient receptor potential channel interacting). [provided by Alliance of Genome Resources, Apr 2022]

Pkd1 Products (1)

mRNA	Protein	Name
NM_013630.3	NP_038658.2	polycystin-1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium channel activity	IMP IMP: Inferred from mutant phenotype	12514735	MGI
enables monoatomic cation channel activity	IPI IPI: Inferred from physical interaction	15548533	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	11901144	MGI
enables transcription regulator inhibitor activity	IMP IMP: Inferred from mutant phenotype	16311606	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within blood vessel development	IMP IMP: Inferred from mutant phenotype	10677526	MGI
involved in branching morphogenesis of an epithelial tube	IDA IDA: Inferred from direct assay	24939912	MGI
involved in calcium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	12514735	MGI
involved in calcium ion transport	IDA IDA: Inferred from direct assay	12514735	MGI
acts upstream of or within calcium ion transport	IMP IMP: Inferred from mutant phenotype	12514735	MGI
acts upstream of or within cartilage condensation	IMP IMP: Inferred from mutant phenotype	11593033	MGI
involved in cell surface receptor signaling pathway via JAK-STAT	EXP EXP: Inferred from Experiment	12007403	MGI
acts upstream of or within cell surface receptor signaling pathway via JAK-STAT	IDA IDA: Inferred from direct assay	12007403	MGI
acts upstream of or within cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	10677526	MGI
acts upstream of or within detection of mechanical stimulus	IDA IDA: Inferred from direct assay	15545994	MGI
acts upstream of or within detection of mechanical stimulus	IMP IMP: Inferred from mutant phenotype	12514735	MGI
involved in embryonic placenta development	IMP IMP: Inferred from mutant phenotype	20862291	MGI
acts upstream of or within establishment of cell polarity	IMP IMP: Inferred from mutant phenotype	24767999	MGI
acts upstream of or within heart development	IMP IMP: Inferred from mutant phenotype	11593033	MGI
acts upstream of or within in utero embryonic development	IGI IGI: Inferred from genetic interaction	16282979	MGI
acts upstream of or within in utero embryonic development	IMP IMP: Inferred from mutant phenotype	16282979	MGI
acts upstream of or within kidney development	IGI IGI: Inferred from genetic interaction	21685914	MGI
acts upstream of or within kidney development	IMP IMP: Inferred from mutant phenotype	21518438	MGI
involved in kidney development	IMP IMP: Inferred from mutant phenotype	20862291	MGI
acts upstream of or within liver development	IGI IGI: Inferred from genetic interaction	21685914	MGI
acts upstream of or within lymph vessel morphogenesis	IMP IMP: Inferred from mutant phenotype	24767999	MGI
acts upstream of or within nitrogen cycle metabolic process	IGI IGI: Inferred from genetic interaction	21685914	MGI
involved in peptidyl-serine phosphorylation	IMP IMP: Inferred from mutant phenotype	20181743	MGI
involved in placenta blood vessel development	IMP IMP: Inferred from mutant phenotype	20862291	MGI
involved in protein export from nucleus	IMP IMP: Inferred from mutant phenotype	20181743	MGI
acts upstream of or within regulation of cell adhesion	IMP IMP: Inferred from mutant phenotype	24767999	MGI
acts upstream of or within regulation of cell cycle	IDA IDA: Inferred from direct assay	12007403	MGI
acts upstream of or within regulation of mitotic spindle organization	IMP IMP: Inferred from mutant phenotype	21685914	MGI
acts upstream of or within regulation of proteasomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	23001567	MGI
acts upstream of or within response to fluid shear stress	IMP IMP: Inferred from mutant phenotype	18285569	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	25405894	MGI
located in cell surface	IDA IDA: Inferred from direct assay	24939912	MGI
located in cilium	IDA IDA: Inferred from direct assay	12514735	MGI
located in cytoplasm	IMP IMP: Inferred from mutant phenotype	16311606	MGI
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	25405894	MGI
located in motile cilium	IDA IDA: Inferred from direct assay	15858826	MGI
located in nucleus	IDA IDA: Inferred from direct assay	15545994	MGI
located in plasma membrane	IPI IPI: Inferred from physical interaction	15548533	MGI
part of polycystin complex	IDA IDA: Inferred from direct assay	11901144	MGI
part of polycystin complex	IPI IPI: Inferred from physical interaction	11901144	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Pkd1 Protein Structure

LRRNT

LRR_8

LRR_1

PCC

LRR_1

GPS

PLAT_polycystin

PKD_channel

0
700
1400
2100
2800
3500
4293 a.a.

Protein Preferred Names	Protein Names
polycystin-1	autosomal dominant polycystic kidney disease 1 protein homolog polycystic kidney disease 1 homolog polycystic kidney disease 1 homolog polycystin-1 polycystin 1, transient receptor poteintial channel interacting

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-15698	CRT0066101	Inhibitor	99.88%	Phase 1

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13687	IKK 16	Inhibitor	99.88%	Unkown
HY-15698A	CRT0066101 dihydrochloride	Inhibitor	99.97%	Unkown
HY-13941	1-Naphthyl PP1	Inhibitor	99.36%	Unkown
HY-13687A	IKK 16 hydrochloride	Inhibitor	99.95%	Unkown
HY-12239	CID755673	Inhibitor	99.13%	Unkown
HY-118052	BPKDi	Inhibitor	99.74%	Unkown
HY-13454	CID 2011756	Inhibitor	96.98%	Unkown
HY-15528	kb NB 142-70	Inhibitor	98.02%	Unkown
HY-128142	PKC/PKD-IN-1	Inhibitor	98.35%	Unkown
HY-151374	3-IN-PP1	Inhibitor	99.37%	Unkown
HY-15698B	CRT0066101 trihydrochloride	Inhibitor	/	Unkown
HY-151372	Protein kinase D inhibitor 1	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Pkd1	NCBI	NCBI:5310