Protein Description

Gene Symbol PKD1
Entrez ID 5310
Uniprot ID P98161
Description polycystic kidney disease 1 (autosomal dominant)
Chromosomal Location chr16: 2,088,710-2,135,898
Ontology GO ID GO Term Definition Evidence

BP

GO:0001502

cartilage condensation

The condensation of mesenchymal cells that have been committed to differentiate into chondrocytes.

IEA

BP

GO:0001701

in utero embryonic development

The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.

ISS

BP

GO:0001822

kidney development

The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine.

ISS

BP

GO:0001889

liver development

The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes.

IEA

BP

GO:0001892

embryonic placenta development

The embryonically driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin.

ISS

BP

GO:0006611

protein export from nucleus

The directed movement of a protein from the nucleus into the cytoplasm.

ISS

BP

GO:0006807

nitrogen compound metabolic process

The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen, including (but not limited to) nitrogen fixation, nitrification, denitrification, assimilatory/dissimilatory nitrate reduction and the interconversion of nitrogenous organic matter and ammonium.

IEA

BP

GO:0007050

cell cycle arrest

A regulatory process that halts progression through the cell cycle during one of the normal phases (G1, S, G2, M).

ISS

BP

GO:0007156

homophilic cell adhesion via plasma membrane adhesion molecules

The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.

TAS

BP

GO:0007160

cell-matrix adhesion

The binding of a cell to the extracellular matrix via adhesion molecules.

TAS

BP

GO:0007161

calcium-independent cell-matrix adhesion

The binding of a cell to the extracellular matrix via adhesion molecules that do not require the presence of calcium for the interaction.

TAS

BP

GO:0007204

positive regulation of cytosolic calcium ion concentration

Any process that increases the concentration of calcium ions in the cytosol.

IEA

BP

GO:0007259

JAK-STAT cascade

Any process in which STAT proteins (Signal Transducers and Activators of Transcription) and JAK (Janus Activated Kinase) proteins convey a signal to trigger a change in the activity or state of a cell. The JAK-STAT cascade begins with activation of STAT proteins by members of the JAK family of tyrosine kinases, proceeds through dimerization and subsequent nuclear translocation of STAT proteins, and ends with regulation of target gene expression by STAT proteins.

ISS

BP

GO:0007507

heart development

The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.

IEP

BP

GO:0009653

anatomical structure morphogenesis

The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.

TAS

BP

GO:0016337

single organismal cell-cell adhesion

The attachment of one cell to another cell via adhesion molecules, where both cells are part of the same organism.

IEA

BP

GO:0018105

peptidyl-serine phosphorylation

The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.

ISS

BP

GO:0021510

spinal cord development

The process whose specific outcome is the progression of the spinal cord over time, from its formation to the mature structure. The spinal cord primarily conducts sensory and motor nerve impulses between the brain and the peripheral nervous tissues.

IEP

BP

GO:0021915

neural tube development

The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium.

IEP

BP

GO:0030010

establishment of cell polarity

The specification and formation of anisotropic intracellular organization or cell growth patterns.

IEA

BP

GO:0030155

regulation of cell adhesion

Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.

IEA

BP

GO:0031659

positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle

Any process that activates or increases the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity contributing to the G1/S transition of the cell cycle.

IDA

BP

GO:0032092

positive regulation of protein binding

Any process that activates or increases the frequency, rate or extent of protein binding.

ISS

BP

GO:0034405

response to fluid shear stress

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fluid shear stress stimulus. Fluid shear stress is the force acting on an object in a system where the fluid is moving across a solid surface.

IEA

BP

GO:0036303

lymph vessel morphogenesis

The process in which the anatomical structures of lymph vessels are generated and organized. The lymph vessel is the vasculature carrying lymph.

IEA

BP

GO:0042994

cytoplasmic sequestering of transcription factor

The selective interaction of a transcription factor with specific molecules in the cytoplasm, thereby inhibiting its translocation into the nucleus.

ISS

BP

GO:0043588

skin development

The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue.

IEP

BP

GO:0045944

positive regulation of transcription from RNA polymerase II promoter

Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IDA

BP

GO:0048565

digestive tract development

The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed.

IEP

BP

GO:0048754

branching morphogenesis of an epithelial tube

The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder.

IDA

BP

GO:0048806

genitalia development

The process whose specific outcome is the progression of the genitalia over time, from its formation to the mature structure.

IEP

BP

GO:0050982

detection of mechanical stimulus

The series of events by which a mechanical stimulus is received and converted into a molecular signal.

IBA|ISS

BP

GO:0051216

cartilage development

The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.

IEP

BP

GO:0060236

regulation of mitotic spindle organization

Any process that modulates the rate, frequency or extent of the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle.

IEA

BP

GO:0060428

lung epithelium development

The biological process whose specific outcome is the progression of the lung epithelium from an initial condition to its mature state. This process begins with the formation of lung epithelium and ends with the mature structure. The lung epithelium is the specialized epithelium that lines the inside of the lung.

IEP

BP

GO:0060674

placenta blood vessel development

The process whose specific outcome is the progression of a blood vessel of the placenta over time, from its formation to the mature structure.

ISS

BP

GO:0061136

regulation of proteasomal protein catabolic process

Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds that is mediated by the proteasome.

IDA

BP

GO:0070588

calcium ion transmembrane transport

A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.

ISS

BP

GO:0072164

mesonephric tubule development

The progression of a mesonephric tubule over time, from its initial formation to the mature structure. A mesonephric tubule is an epithelial tube that is part of the mesonephros.

IEP

BP

GO:0072177

mesonephric duct development

The process whose specific outcome is the progression of a mesonephric duct over time, from its initial formation to a mature structure. A mesonephric duct is a tube drains the mesonephros.

IEP

BP

GO:0072205

metanephric collecting duct development

The process whose specific outcome is the progression of a collecting duct in the metanephros over time, from its formation to the mature structure. The collecting duct responds to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance. The collecting duct is the final common path through which urine flows before entering the ureter and then emptying into the bladder.

IEP

BP

GO:0072218

metanephric ascending thin limb development

The process whose specific outcome is the progression of a metanephric ascending thin limb over time, from its formation to the mature structure. The metanephric ascending thin limb is a segment of a nephron tubule in the metanephros lying in the inner medulla that is permeable to ions but not to water and has a simple epithelium; active transepithelial solute transport is absent.

IEP

BP

GO:0072237

metanephric proximal tubule development

The process whose specific outcome is the progression of the metanephric proximal tubule over time, from its formation to the mature structure. The metanephric proximal tubule is a metanephric nephron tubule that connects Bowman's capsule to the descending thin limb of the loop of Henle in the metanephros. It has a brush border epithelial morphology.

IEP

BP

GO:0072287

metanephric distal tubule morphogenesis

The process in which the anatomical structures of a metanephric distal tubule are generated and organized. The metanephric distal tubule is a metanephric nephron tubule that begins at the macula densa and extends to the metanephric connecting tubule.

IEP

CC

GO:0000139

Golgi membrane

The lipid bilayer surrounding any of the compartments of the Golgi apparatus.

TAS

CC

GO:0002133

polycystin complex

A stable heterodimeric complex composed of polycystin-1 and polycystin-2.

ISS

CC

GO:0005634

nucleus

A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

ISS

CC

GO:0005737

cytoplasm

All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

ISS

CC

GO:0005886

plasma membrane

The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

IDA

CC

GO:0005887

integral component of plasma membrane

The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

TAS

CC

GO:0005929

cilium

A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.

ISS

CC

GO:0009986

cell surface

The external part of the cell wall and/or plasma membrane.

IEA

CC

GO:0016021

integral component of membrane

The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

NAS

CC

GO:0016323

basolateral plasma membrane

The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.

IDA

CC

GO:0016328

lateral plasma membrane

The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells.

IEA

CC

GO:0030660

Golgi-associated vesicle membrane

The lipid bilayer surrounding a vesicle associated with the Golgi apparatus.

TAS

CC

GO:0031512

motile primary cilium

A primary cilium which may contain a variable array of axonemal microtubules and also contains molecular motors. Motile primary cilia display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization.

ISS

CC

GO:0060170

ciliary membrane

The portion of the plasma membrane surrounding a cilium.

TAS

CC

GO:0070062

extracellular exosome

A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

IDA

CC

GO:0072372

primary cilium

A cilium found on many different cell types that is typically present in a single copy per cell. A primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors.

ISS

MF

GO:0005262

calcium channel activity

Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.

IBA|ISS

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0019901

protein kinase binding

Interacting selectively and non-covalently with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

IPI

MF

GO:0019904

protein domain specific binding

Interacting selectively and non-covalently with a specific domain of a protein.

IPI

MF

GO:0030246

carbohydrate binding

Interacting selectively and non-covalently with any carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates.

IEA

MF

GO:0044325

ion channel binding

Interacting selectively and non-covalently with one or more specific sites on an ion channel, a protein complex that spans a membrane and forms a water-filled channel across the phospholipid bilayer allowing selective ion transport down its electrochemical gradient.

IPI

Domain ID Description

IPR000203

GPS motif

IPR000372

Leucine-rich repeat N-terminal domain

IPR000434

Polycystic kidney disease type 1 protein

IPR000483

Cysteine-rich flanking region, C-terminal

IPR000601

PKD domain

IPR001024

PLAT/LH2 domain

IPR001304

C-type lectin-like

IPR001611

Leucine-rich repeat

IPR002859

PKD/REJ-like domain

IPR002889

Carbohydrate-binding WSC

IPR003591

Leucine-rich repeat, typical subtype

IPR006228

Polycystin cation channel

IPR013122

Polycystin cation channel, PKD1/PKD2

IPR013783

Immunoglobulin-like fold

IPR014010

REJ domain

IPR016186

C-type lectin-like/link domain

IPR016187

C-type lectin fold

IPR022409

PKD/Chitinase domain

IPR032675

Leucine-rich repeat domain, L domain-like

Pathway ID Pathway Term Pathway Source

WP3958

GPR40 Pathway

WikiPathways

WP3670

Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway

WikiPathways

UMLS CUI UMLS Term

C0010709

Cyst

C0022680

Polycystic Kidney Diseases

C0085413

Polycystic Kidney, Autosomal Dominant

Tissue Cell Type

endometrium

glandular cells

epididymis

glandular cells

kidney

cells in tubules

stomach

glandular cells

No databases found.

Pubmed ID Author Year Title

12734205

Wood et al.

2003

The Molecular Phenotype of Polycystic Ovary Syndrome (PCOS) Theca Cells and New Candidate PCOS Genes Defined by Microarray Analysis

Gene Symbol Entrez ID Uniprot ID Score

ATP1A1

476

P05023

0.49

PKD1

5310

P98161

0.49

MARK2

2011

Q7KZI7

0.52

JAK2

3717

O60674

0.52

ACTN1

87

P12814

0.55

CDH1

999

P12830

0.55

CTNNA1

1495

P35221

0.55

JUP

3728

P14923

0.55

SRC

6714

P12931

0.55

TLN1

7094

Q9Y490

0.55

VCL

7414

P18206

0.55

ABL1

25

P00519

0.63

ATF7IP

55729

Q6VMQ6

0.63

JADE1

79960

Q6IE81

0.65

PTK2

5747

Q05397

0.67

SIAH1

6477

Q8IUQ4

0.73

DES

1674

P17661

0.74

KRT8

3856

P05787

0.74

VIM

7431

P08670

0.74

COL1A1

1277

P02452

0.75

COL2A1

1280

P02458

0.75

FN1

2335

P02751

0.75

CTNNB1

1499

P35222

0.77

NPHP1

4867

O15259

0.78

KRT18

3875

P05783

0.85

PKD2

5311

Q13563

0.97

PXN

5829

P49023

0.55

BCAR1

9564

P56945

0.55

CFTR

1080

P13569

0.63

FYN

2534

P06241

0.63

GAN

8139

Q9H2C0

0.63

RGS7

6000

P49802

0.79

HDAC9

9734

Q9UKV0

0.80