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 |
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 |