Pkd1 polycystin 1, transient receptor potential channel interacting [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Pkd1provided by RGD
Official Full Name: polycystin 1, transient receptor potential channel interactingprovided by RGD
Primary source: RGD:3333
See related: Ensembl:ENSRNOG00000010771 AllianceGenome:RGD:3333
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable several functions, including Wnt-activated receptor activity; protein kinase binding activity; and transmembrane transporter binding activity. Predicted to contribute to calcium channel activity. Involved in positive regulation of cytosolic calcium ion concentration. Located in Golgi apparatus and lateral plasma membrane. Used to study polycystic kidney disease. 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]
Expression: Biased expression in Lung (RPKM 191.2), Heart (RPKM 147.1) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q12

Exon count:: 48

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (14077733..14125682)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (13573779..13621138)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (13914057..13962008)

Chromosome 10 - NC_086028.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PKD1 alleviates oxidative stress-inhibited osteogenesis of rat bone marrow-derived mesenchymal stem cells through TAZ activation.
Title: PKD1 alleviates oxidative stress-inhibited osteogenesis of rat bone marrow-derived mesenchymal stem cells through TAZ activation.
Polycystin-1 mitigates damage and regulates CTGF expression through AKT activation during cardiac ischemia/reperfusion.
Title: Polycystin-1 mitigates damage and regulates CTGF expression through AKT activation during cardiac ischemia/reperfusion.
PKD1 enhances the stability of N-cadherin on cell membrane and promotes synapse morphogenesis and synaptic plasticity in an activity-dependent manner
Title: PKD1 Promotes Functional Synapse Formation Coordinated with N-Cadherin in Hippocampus.
PKD1 mediates the PKC effects on KV11.1 and we found that PKD targets S284 in the N-terminus of the channel.
Title: PKD Phosphorylation as Novel Pathway of KV11.1 Regulation.
These findings provide novel evidence that PC1 is involved in the regulation of cardiac LTCCs through a Gibetagamma-AKT-Cavbeta2 pathway, suggesting a new mechanism for regulation of cardiac function.
Title: Mechanical stretch increases L-type calcium channel stability in cardiomyocytes through a polycystin-1/AKT-dependent mechanism.
PAK-mediated phosphorylation of PKD1 at Ser203 triggers its membrane dissociation and subsequent entry into the nucleus, thereby regulating the phosphorylation of PKD1 nuclear targets, including class IIa histone deacetylases.
Title: Protein kinase D1 (PKD1) phosphorylation on Ser(203) by type I p21-activated kinase (PAK) regulates PKD1 localization.
detected a marked increase in the localization of beta-catenin in the nucleus of crypt epithelial cells in the ileum of PKD1
Title: Positive cross talk between protein kinase D and β-catenin in intestinal epithelial cells: impact on β-catenin nuclear localization and phosphorylation at Ser552.
formation of the Hsp20-PKD1 complex is essential for PKD1 nuclear translocation, signaling mechanisms leading to hypertrophy
Title: Small heat shock protein 20 (Hsp20) facilitates nuclear import of protein kinase D 1 (PKD1) during cardiac hypertrophy.
Overexpression of a C-terminal fragment of PC-1 was sufficient to trigger neonatal rat ventricular myocyte hypertrophy. PC-1 knockdown prevented neonatal rat ventricular myocyte expression of alpha 1C protein triggered by hypotonic medium.
Title: Polycystin-1 Is a Cardiomyocyte Mechanosensor That Governs L-Type Ca2+ Channel Protein Stability.
Both polycystins were detected on the spindle and mid-body of mitotic cells, while fibrocystin was on centrosome throughout cell cycle.
Title: Expression of polycystins and fibrocystin on primary cilia of lung cells.

Submit: New GeneRIF Correction See all GeneRIFs (15)

General gene information

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Markers

Pkd1 (e-PCR), detects polymorphism
- UniSTS:526977

RH143904 (e-PCR)
- UniSTS:233150

RH94522 (e-PCR)
- UniSTS:119770

RH138827 (e-PCR)
- UniSTS:220914

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables Wnt receptor activity	ISO Inferred from Sequence Orthology more info
contributes_to calcium channel activity	ISO Inferred from Sequence Orthology more info
enables calcium channel activity	ISO Inferred from Sequence Orthology more info
contributes_to monoatomic cation channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables monoatomic cation channel activity	ISO Inferred from Sequence Orthology more info
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables transcription regulator inhibitor activity	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within blood vessel development	ISO Inferred from Sequence Orthology more info
involved_in branching morphogenesis of an epithelial tube	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cartilage condensation	ISO Inferred from Sequence Orthology more info
involved_in cartilage development	ISO Inferred from Sequence Orthology more info
involved_in cell surface receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell surface receptor signaling pathway via JAK-STAT	ISO Inferred from Sequence Orthology more info
involved_in cell surface receptor signaling pathway via JAK-STAT	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell-cell adhesion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within detection of mechanical stimulus	ISO Inferred from Sequence Orthology more info
involved_in digestive tract development	ISO Inferred from Sequence Orthology more info
involved_in embryonic placenta development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment of epithelial cell polarity	ISO Inferred from Sequence Orthology more info
involved_in genitalia development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart development	ISO Inferred from Sequence Orthology more info
involved_in heart development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within in utero embryonic development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within kidney development	ISO Inferred from Sequence Orthology more info
involved_in kidney development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within liver development	ISO Inferred from Sequence Orthology more info
involved_in lung epithelium development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lymph vessel morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in mesonephric duct development	ISO Inferred from Sequence Orthology more info
involved_in mesonephric tubule development	ISO Inferred from Sequence Orthology more info
involved_in metanephric ascending thin limb development	ISO Inferred from Sequence Orthology more info
involved_in metanephric collecting duct development	ISO Inferred from Sequence Orthology more info
involved_in metanephric distal tubule morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in metanephric proximal tubule development	ISO Inferred from Sequence Orthology more info
involved_in mitocytosis	ISO Inferred from Sequence Orthology more info
involved_in neural tube development	ISO Inferred from Sequence Orthology more info
involved_in placenta blood vessel development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in protein export from nucleus	ISO Inferred from Sequence Orthology more info
involved_in protein heterotetramerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of regulation of G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cell adhesion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cell cycle	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of mitotic spindle organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of proteasomal protein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to fluid shear stress	ISO Inferred from Sequence Orthology more info
involved_in skin development	ISO Inferred from Sequence Orthology more info
involved_in spinal cord development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
part_of calcium channel complex	ISO Inferred from Sequence Orthology more info
part_of cation channel complex	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in extracellular exosome	ISO Inferred from Sequence Orthology more info
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in migrasome	ISO Inferred from Sequence Orthology more info
located_in motile cilium	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of polycystin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: polycystin-1

Names: polycystic kidney disease 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001414013.1 → NP_001400942.1 polycystin-1 precursor

Status: VALIDATED

Source sequence(s)

JAXUCZ010000010

UniProtKB/TrEMBL

F1MAD3

Related

ENSRNOP00000015092.7, ENSRNOT00000015092.8

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086028.1 Reference GRCr8

Range

14077733..14125682

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063268414.1 → XP_063124484.1 polycystin-1 isoform X1

UniProtKB/TrEMBL

F1MAD3
XM_008767541.4 → XP_008765763.1 polycystin-1 isoform X6

UniProtKB/TrEMBL

A6HCU0

Conserved Domains (12) summary

TIGR00864
Location:97 → 2722

PCC; polycystin cation channel protein

smart00303
Location:3002 → 3051

GPS; G-protein-coupled receptor proteolytic site domain

smart00013
Location:32 → 71

LRRNT; Leucine rich repeat N-terminal domain

smart00034
Location:406 → 530

CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)

smart00082
Location:125 → 177

LRRCT; Leucine rich repeat C-terminal domain

smart00089
Location:1471 → 1538

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

smart00321
Location:177 → 271

WSC; present in yeast cell wall integrity and stress response component proteins

cd01752
Location:3109 → 3228

PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...

sd00031
Location:70 → 92

LRR_1; leucine-rich repeat [structural motif]

pfam00801
Location:1378 → 1449

PKD; PKD domain

pfam12799
Location:72 → 108

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:61 → 127

LRR_8; Leucine rich repeat
XM_008767539.4 → XP_008765761.1 polycystin-1 isoform X2

UniProtKB/TrEMBL

Q9ERV0

Conserved Domains (13) summary

TIGR00864
Location:97 → 2722

PCC; polycystin cation channel protein

smart00303
Location:3002 → 3051

GPS; G-protein-coupled receptor proteolytic site domain

smart00013
Location:32 → 71

LRRNT; Leucine rich repeat N-terminal domain

smart00034
Location:406 → 530

CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)

smart00082
Location:125 → 177

LRRCT; Leucine rich repeat C-terminal domain

smart00089
Location:1471 → 1538

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

smart00321
Location:177 → 271

WSC; present in yeast cell wall integrity and stress response component proteins

cd01752
Location:3109 → 3228

PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...

sd00031
Location:70 → 92

LRR_1; leucine-rich repeat [structural motif]

pfam00801
Location:1378 → 1449

PKD; PKD domain

pfam08016
Location:3700 → 4088

PKD_channel; Polycystin cation channel

pfam12799
Location:72 → 108

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:61 → 127

LRR_8; Leucine rich repeat
XM_008767540.4 → XP_008765762.1 polycystin-1 isoform X3

UniProtKB/TrEMBL

A0A8I6AC84, Q9ERV0

Related

ENSRNOP00000089569.1

Conserved Domains (13) summary

TIGR00864
Location:97 → 2722

PCC; polycystin cation channel protein

smart00303
Location:3002 → 3051

GPS; G-protein-coupled receptor proteolytic site domain

smart00013
Location:32 → 71

LRRNT; Leucine rich repeat N-terminal domain

smart00034
Location:406 → 530

CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)

smart00082
Location:125 → 177

LRRCT; Leucine rich repeat C-terminal domain

smart00089
Location:1471 → 1538

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

smart00321
Location:177 → 271

WSC; present in yeast cell wall integrity and stress response component proteins

cd01752
Location:3109 → 3228

PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...

sd00031
Location:70 → 92

LRR_1; leucine-rich repeat [structural motif]

pfam00801
Location:1378 → 1449

PKD; PKD domain

pfam08016
Location:3662 → 4064

PKD_channel; Polycystin cation channel

pfam12799
Location:72 → 108

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:61 → 127

LRR_8; Leucine rich repeat
XM_063268415.1 → XP_063124485.1 polycystin-1 isoform X4
XM_063268416.1 → XP_063124486.1 polycystin-1 isoform X5
XM_039085207.2 → XP_038941135.1 polycystin-1 isoform X7

Conserved Domains (4) summary

TIGR00864
Location:1 → 1714

PCC; polycystin cation channel protein

cd01752
Location:2101 → 2220

PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...

pfam08016
Location:2694 → 3094

PKD_channel; Polycystin cation channel

cl02559
Location:1994 → 2043

GPS; GPCR proteolysis site, GPS, motif