Gene Symbol | GJA1 |
Entrez ID | 2697 |
Uniprot ID | P17302 |
Description | gap junction protein alpha 1 |
Chromosomal Location | chr6: 121,435,692-121,449,727 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0001649 |
osteoblast differentiation |
The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. |
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. |
IEA |
BP |
GO:0001764 |
neuron migration |
The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. |
IEA |
BP |
GO:0001937 |
negative regulation of endothelial cell proliferation |
Any process that stops, prevents, or reduces the rate or extent of endothelial cell proliferation. |
IEA |
BP |
GO:0001947 |
heart looping |
The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation. |
IEA |
BP |
GO:0002070 |
epithelial cell maturation |
The developmental process, independent of morphogenetic (shape) change, that is required for an epithelial cell to attain its fully functional state. An epithelial cell is a cell usually found in a two-dimensional sheet with a free surface. |
IEA |
BP |
GO:0002088 |
lens development in camera-type eye |
The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. |
IEA |
BP |
GO:0002544 |
chronic inflammatory response |
Inflammation of prolonged duration (weeks or months) in which active inflammation, tissue destruction, and attempts at repair are proceeding simultaneously. Although it may follow acute inflammation, chronic inflammation frequently begins insidiously, as a low-grade, smoldering, often asymptomatic response. |
IEA |
BP |
GO:0003104 |
positive regulation of glomerular filtration |
Any process that activates or increases the frequency, rate or extent of glomerular filtration. Glomerular filtration is the processs whereby blood is filtered by the glomerulus into the renal tubule. |
IEA |
BP |
GO:0003158 |
endothelium development |
The process whose specific outcome is the progression of an endothelium over time, from its formation to the mature structure. Endothelium refers to the layer of cells lining blood vessels, lymphatics, the heart, and serous cavities, and is derived from bone marrow or mesoderm. Corneal endothelium is a special case, derived from neural crest cells. |
IEA |
BP |
GO:0003294 |
atrial ventricular junction remodeling |
The reorganization or renovation of heart tissue that contributes to the maturation of the connection between an atrium and a ventricle. |
IEA |
BP |
GO:0006810 |
transport |
The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein. |
TAS |
BP |
GO:0006915 |
apoptotic process |
A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
IEA |
BP |
GO:0006936 |
muscle contraction |
A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
TAS |
BP |
GO:0007165 |
signal transduction |
The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
IDA |
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:0007267 |
cell-cell signaling |
Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. |
IDA |
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. |
TAS |
BP |
GO:0007512 |
adult heart development |
The process whose specific outcome is the progression of the adult heart over time, from its formation to the mature structure. |
IEA |
BP |
GO:0009268 |
response to pH |
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 pH stimulus. pH is a measure of the acidity or basicity of an aqueous solution. |
IEA |
BP |
GO:0009749 |
response to glucose |
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 glucose stimulus. |
IEA |
BP |
GO:0010232 |
vascular transport |
The directed movement of substances, into, out of or within a cell, either in a vascular tissue or in the vascular membrane. |
IEA |
BP |
GO:0010628 |
positive regulation of gene expression |
Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. |
IEA |
BP |
GO:0010629 |
negative regulation of gene expression |
Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. |
IEA |
BP |
GO:0010643 |
cell communication by chemical coupling |
The process that mediates signaling interactions between one cell and another cell by the transfer of small, water-soluble molecules or metabolites between their adjacent cytoplasms via intercellular protein channels. |
IEA |
BP |
GO:0010644 |
cell communication by electrical coupling |
The process that mediates signaling interactions between one cell and another cell by transfer of current between their adjacent cytoplasms via intercellular protein channels. |
IDA |
BP |
GO:0010652 |
positive regulation of cell communication by chemical coupling |
Any process that increases the frequency, rate or extent of cell communication via chemical coupling. Cell communication by chemical coupling is the process that mediates signaling interactions between one cell and another cell by the transfer of small, water-soluble molecules or metabolites between their adjacent cytoplasms via intercellular protein channels. |
IEA |
BP |
GO:0015867 |
ATP transport |
The directed movement of ATP, adenosine triphosphate, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
IEA |
BP |
GO:0016264 |
gap junction assembly |
Assembly of gap junctions, which are found in most animal tissues, and serve as direct connections between the cytoplasms of adjacent cells. They provide open channels through the plasma membrane, allowing ions and small molecules (less than approximately a thousand daltons) to diffuse freely between neighboring cells, but preventing the passage of proteins and nucleic acids. |
TAS |
BP |
GO:0030308 |
negative regulation of cell growth |
Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
ISS |
BP |
GO:0030500 |
regulation of bone mineralization |
Any process that modulates the frequency, rate or extent of bone mineralization. |
IEA |
BP |
GO:0032024 |
positive regulation of insulin secretion |
Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. |
IEA |
BP |
GO:0034220 |
ion transmembrane transport |
A process in which an ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
IDA |
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:0042733 |
embryonic digit morphogenesis |
The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe. |
IEA |
BP |
GO:0043123 |
positive regulation of I-kappaB kinase/NF-kappaB signaling |
Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
IMP |
BP |
GO:0043403 |
skeletal muscle tissue regeneration |
The regrowth of skeletal muscle tissue to repair injured or damaged muscle fibers in the postnatal stage. |
IEA |
BP |
GO:0043434 |
response to peptide hormone |
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 peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. |
IEA |
BP |
GO:0045669 |
positive regulation of osteoblast differentiation |
Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. |
IEA |
BP |
GO:0045732 |
positive regulation of protein catabolic process |
Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
IEA |
BP |
GO:0045844 |
positive regulation of striated muscle tissue development |
Any process that activates or increases the frequency, rate or extent of striated muscle development. |
IEA |
BP |
GO:0045907 |
positive regulation of vasoconstriction |
Any process that activates or increases the frequency, rate or extent of vasoconstriction. |
IEA |
BP |
GO:0045909 |
positive regulation of vasodilation |
Any process that activates or increases the frequency, rate or extent of vasodilation. |
IEA |
BP |
GO:0046850 |
regulation of bone remodeling |
Any process that modulates the frequency, rate or extent of bone remodeling, the processes of bone formation and resorption that combine to maintain skeletal integrity. |
IEA |
BP |
GO:0048514 |
blood vessel morphogenesis |
The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. |
IEA |
BP |
GO:0048812 |
neuron projection morphogenesis |
The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. |
IEA |
BP |
GO:0051259 |
protein oligomerization |
The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
IEA |
BP |
GO:0051924 |
regulation of calcium ion transport |
Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
IEA |
BP |
GO:0060044 |
negative regulation of cardiac muscle cell proliferation |
Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle cell proliferation. |
IEA |
BP |
GO:0060156 |
milk ejection |
An automatic response to suckling, beginning with a nerve impulse from a receptor in the mammary gland and ending with the ejection of milk from the gland. Signaling never reaches a level of consciousness. |
IEA |
BP |
GO:0060307 |
regulation of ventricular cardiac muscle cell membrane repolarization |
Any process that modulates the establishment or extent of a membrane potential in the polarizing direction towards the resting potential in a ventricular cardiomyocyte. |
IEA |
BP |
GO:0060371 |
regulation of atrial cardiac muscle cell membrane depolarization |
Any process that modulates the establishment or extent of a membrane potential in the depolarizing direction away from the resting potential in an atrial cardiomyocyte. |
IEA |
BP |
GO:0060373 |
regulation of ventricular cardiac muscle cell membrane depolarization |
Any process that modulates the establishment or extent of a membrane potential in the depolarizing direction away from the resting potential in a ventricular cardiomyocyte. |
IEA |
BP |
GO:0061045 |
negative regulation of wound healing |
Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. |
IEA |
BP |
GO:0071260 |
cellular response to mechanical stimulus |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus. |
IEA |
BP |
GO:0086014 |
atrial cardiac muscle cell action potential |
An action potential that occurs in an atrial cardiac muscle cell. |
TAS |
BP |
GO:0086064 |
cell communication by electrical coupling involved in cardiac conduction |
The process that mediates signaling interactions between one cell and another cell by transfer of current between their adjacent cytoplasms via intercellular protein channels and contributes to the process of cardiac conduction. |
NAS |
BP |
GO:2000279 |
negative regulation of DNA biosynthetic process |
Any process that stops, prevents or reduces the frequency, rate or extent of DNA biosynthetic process. |
IEA |
BP |
GO:2000810 |
regulation of bicellular tight junction assembly |
Any process that modulates the frequency, rate or extent of tight junction assembly. |
IEA |
BP |
GO:2000987 |
positive regulation of behavioral fear response |
Any process that activates or increases the frequency, rate or extent of behavioral fear response. |
IEA |
CC |
GO:0000139 |
Golgi membrane |
The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
TAS |
CC |
GO:0005739 |
mitochondrion |
A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
IDA |
CC |
GO:0005741 |
mitochondrial outer membrane |
The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
IEA |
CC |
GO:0005764 |
lysosome |
A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
IEA |
CC |
GO:0005769 |
early endosome |
A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
IEA |
CC |
GO:0005771 |
multivesicular body |
A type of endosome in which regions of the limiting endosomal membrane invaginate to form internal vesicles; membrane proteins that enter the internal vesicles are sequestered from the cytoplasm. |
IEA |
CC |
GO:0005789 |
endoplasmic reticulum membrane |
The lipid bilayer surrounding the endoplasmic reticulum. |
TAS |
CC |
GO:0005794 |
Golgi apparatus |
A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. |
ISS |
CC |
GO:0005829 |
cytosol |
The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
IEA |
CC |
GO:0005882 |
intermediate filament |
A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins. |
IEA |
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. |
ISS|TAS |
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:0005916 |
fascia adherens |
A cell-cell adherens junction that contains the transmembrane protein N-cadherin, which interacts with identical molecules from neighboring cells to form a tight mechanical intercellular link; forms a large portion of the intercalated disc, the structure at which myofibrils terminate in cardiomyocytes. |
IEA |
CC |
GO:0005921 |
gap junction |
A cell-cell junction composed of pannexins or innexins and connexins, two different families of channel-forming proteins. |
IDA|ISS |
CC |
GO:0005922 |
connexin complex |
An assembly of six molecules of connexin, made in the Golgi apparatus and subsequently transported to the plasma membrane, where docking of two connexons on apposed plasma membranes across the extracellular space forms a gap junction. |
IEA |
CC |
GO:0005925 |
focal adhesion |
Small region on the surface of a cell that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. |
IDA |
CC |
GO:0014704 |
intercalated disc |
A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. |
IDA|ISS |
CC |
GO:0016324 |
apical plasma membrane |
The region of the plasma membrane located at the apical end of the cell. |
IEA |
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:0043292 |
contractile fiber |
Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. |
IEA |
CC |
GO:0045121 |
membrane raft |
Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
ISS |
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 |
MF |
GO:0004871 |
signal transducer activity |
Conveys a signal across a cell to trigger a change in cell function or state. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
IDA|IMP |
MF |
GO:0005102 |
receptor binding |
Interacting selectively and non-covalently with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
IEA |
MF |
GO:0005243 |
gap junction channel activity |
A wide pore channel activity that enables a direct cytoplasmic connection from one cell to an adjacent cell. The gap junction can pass large solutes as well as electrical signals between cells. Gap junctions consist of two gap junction hemi-channels, or connexons, one contributed by each membrane through which the gap junction passes. |
IDA |
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:0015075 |
ion transmembrane transporter activity |
Enables the transfer of an ion from one side of a membrane to the other. |
IDA |
MF |
GO:0017124 |
SH3 domain binding |
Interacting selectively and non-covalently with a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
IEA |
MF |
GO:0030165 |
PDZ domain binding |
Interacting selectively and non-covalently with a PDZ domain of a protein, a domain found in diverse signaling proteins. |
IEA |
MF |
GO:0048487 |
beta-tubulin binding |
Interacting selectively and non-covalently with the microtubule constituent protein beta-tubulin. |
IEA |
MF |
GO:0071253 |
connexin binding |
Interacting selectively and non-covalently with a connexin, any of a group of related proteins that assemble to form gap junctions. |
IEA |
MF |
GO:0086075 |
gap junction channel activity involved in cardiac conduction electrical coupling |
A wide pore channel activity that enables a direct cytoplasmic connection from one cardiomyocyte to an adjacent cardiomyocyte. The gap junction passes electrical signals between the cells contributing to cardiac conduction. |
NAS |
MF |
GO:0097110 |
scaffold protein binding |
Interacting selectively and non-covalently with a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
IEA |
MF |
GO:1903763 |
gap junction channel activity involved in cell communication by electrical coupling |
Any gap junction channel activity that is involved in cell communication by electrical coupling. |
IDA |
Domain ID | Description |
---|---|
IPR000500 |
Connexin |
IPR002261 |
Gap junction alpha-1 protein (Cx43) |
IPR013092 |
Connexin, N-terminal |
IPR013124 |
Gap junction alpha-1 protein (Cx43), C-terminal |
IPR017990 |
Connexin, conserved site |
IPR019570 |
Gap junction protein, cysteine-rich domain |
IPR034634 |
Connexin, C-terminal |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa04540 |
Gap junction |
KEGG |
hsa05412 |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) |
KEGG |
WP536 |
Calcium Regulation in the Cardiac Cell |
WikiPathways |
WP437 |
EGF/EGFR Signaling Pathway |
WikiPathways |
WP2431 |
Spinal Cord Injury |
WikiPathways |
WP706 |
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
WikiPathways |
WP1992 |
TarBasePathway |
WikiPathways |
WP2355 |
Corticotropin-releasing hormone signaling pathway |
WikiPathways |
WP2118 |
Arrhythmogenic Right Ventricular Cardiomyopathy |
WikiPathways |
WP289 |
Myometrial Relaxation and Contraction Pathways |
WikiPathways |
WP363 |
Wnt Signaling Pathway Netpath |
WikiPathways |
WP3888 |
VEGFA-VEGFR2 Signaling Pathway |
WikiPathways |
h_gsk3Pathway |
Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages |
BioCarta |
UMLS CUI | UMLS Term |
---|---|
C0001430 |
Adenoma |
C0003811 |
Cardiac Arrhythmia |
C0004352 |
Autistic Disorder |
C0010051 |
Coronary Aneurysm |
C0018522 |
Hallermann'S Syndrome |
C0019284 |
Diaphragmatic Hernia |
C0020538 |
Hypertensive Disease |
C0024121 |
Lung Neoplasms |
C0027055 |
Myocardial Reperfusion Injury |
C0033578 |
Prostatic Neoplasms |
C0037286 |
Skin Neoplasms |
C0152101 |
Hypoplastic Left Heart Syndrome |
C0265961 |
Erythrokeratodermia Variabilis |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
cerebral cortex |
neuropil |
cervix, uterine |
squamous epithelial cells |
endometrium |
cells in endometrial stroma |
heart muscle |
myocytes |
parathyroid gland |
glandular cells |
placenta |
trophoblastic cells |
prostate |
glandular cells |
skin |
keratinocytes |
skin |
epidermal cells |
testis |
Leydig cells |
tonsil |
squamous epithelial cells |
vagina |
squamous epithelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
PRKACA |
5566 |
P17612 |
0.00 |
PRKACB |
5567 |
P22694 |
0.00 |
PRKACG |
5568 |
P22612 |
0.00 |
PRKG1 |
5592 |
Q13976 |
0.00 |
PRKX |
5613 |
P51817 |
0.00 |
TUBA4A |
7277 |
P68366 |
0.00 |
TUBA1B |
10376 |
P68363 |
0.00 |
TUBB |
203068 |
P07437 |
0.00 |
TSG101 |
7251 |
Q99816 |
0.52 |
HGS |
9146 |
O14964 |
0.52 |
DSC2 |
1824 |
Q02487 |
0.56 |
ACADL |
33 |
P28330 |
0.63 |
ACTA1 |
58 |
P68133 |
0.63 |
ACTN4 |
81 |
O43707 |
0.63 |
ALDOA |
226 |
P04075 |
0.63 |
AKR1B1 |
231 |
P15121 |
0.63 |
SLC25A4 |
291 |
P12235 |
0.63 |
SLC25A5 |
292 |
P05141 |
0.63 |
ANXA1 |
301 |
P04083 |
0.63 |
ANXA2 |
302 |
P07355 |
0.63 |
ATP1A1 |
476 |
P05023 |
0.63 |
ATP1B3 |
483 |
P54709 |
0.63 |
ATP5B |
506 |
P06576 |
0.63 |
CALM2 |
805 |
P62158 |
0.63 |
CALM3 |
808 |
P62158 |
0.63 |
CAPZA1 |
829 |
P52907 |
0.63 |
CAPZA2 |
830 |
P47755 |
0.63 |
CCT6A |
908 |
P40227 |
0.63 |
CFL1 |
1072 |
P23528 |
0.63 |
CLTC |
1213 |
Q00610 |
0.63 |
CTSL |
1514 |
P07711 |
0.63 |
DARS |
1615 |
P14868 |
0.63 |
DCN |
1634 |
P07585 |
0.63 |
EEF1A2 |
1917 |
Q05639 |
0.63 |
EEF1D |
1936 |
P29692 |
0.63 |
EEF1G |
1937 |
P26641 |
0.63 |
EEF2 |
1938 |
P13639 |
0.63 |
EIF4G1 |
1981 |
Q04637 |
0.63 |
ENO1 |
2023 |
P06733 |
0.63 |
FLNA |
2316 |
P21333 |
0.63 |
FLNC |
2318 |
Q14315 |
0.63 |
GAPDH |
2597 |
P04406 |
0.63 |
GNAI2 |
2771 |
P04899 |
0.63 |
PDIA3 |
2923 |
P30101 |
0.63 |
HIST1H1B |
3009 |
P16401 |
0.63 |
HADHA |
3030 |
P40939 |
0.63 |
HNRNPD |
3184 |
Q14103 |
0.63 |
HSPA5 |
3309 |
P11021 |
0.63 |
HSPA9 |
3313 |
P38646 |
0.63 |
HSP90AA1 |
3320 |
P07900 |
0.63 |
HSP90AB1 |
3326 |
P08238 |
0.63 |
HSPD1 |
3329 |
P10809 |
0.63 |
EIF3E |
3646 |
P60228 |
0.63 |
KPNA1 |
3836 |
P52294 |
0.63 |
RPSA |
3921 |
P08865 |
0.63 |
LGALS1 |
3956 |
P09382 |
0.63 |
LMNB1 |
4001 |
P20700 |
0.63 |
NDUFA7 |
4701 |
O95182 |
0.63 |
NDUFS1 |
4719 |
P28331 |
0.63 |
NEFM |
4741 |
P07197 |
0.63 |
NEFL |
4747 |
P07196 |
0.63 |
OAT |
4942 |
P04181 |
0.63 |
PRDX1 |
5052 |
Q06830 |
0.63 |
PFN1 |
5216 |
P07737 |
0.63 |
SERPINE2 |
5270 |
P07093 |
0.63 |
PKM |
5315 |
P14618 |
0.63 |
PPIA |
5478 |
P62937 |
0.63 |
PRPH |
5630 |
P41219 |
0.63 |
PSMB7 |
5695 |
Q99436 |
0.63 |
PSMD7 |
5713 |
P51665 |
0.63 |
PSMD13 |
5719 |
Q9UNM6 |
0.63 |
PYCR1 |
5831 |
P32322 |
0.63 |
QARS |
5859 |
P47897 |
0.63 |
RAN |
5901 |
P62826 |
0.63 |
RAP1A |
5906 |
P62834 |
0.63 |
RCN1 |
5954 |
Q15293 |
0.63 |
RPL22 |
6146 |
P35268 |
0.63 |
RPL27 |
6155 |
P61353 |
0.63 |
RPLP0 |
6175 |
P05388 |
0.63 |
RPLP1 |
6176 |
P05386 |
0.63 |
RPLP2 |
6181 |
P05387 |
0.63 |
RPS3A |
6189 |
P61247 |
0.63 |
RPS16 |
6217 |
P62249 |
0.63 |
RPS17 |
6218 |
P08708 |
0.63 |
SHMT1 |
6470 |
P34896 |
0.63 |
SOD1 |
6647 |
P00441 |
0.63 |
SPTA1 |
6708 |
P02549 |
0.63 |
TRIM21 |
6737 |
P19474 |
0.63 |
STAU1 |
6780 |
O95793 |
0.63 |
STXBP1 |
6812 |
P61764 |
0.63 |
STXBP2 |
6813 |
Q15833 |
0.63 |
PRDX2 |
7001 |
P32119 |
0.63 |
TXNRD1 |
7296 |
Q16881 |
0.63 |
UBB |
7314 |
P0CG47 |
0.63 |
UQCRC2 |
7385 |
P22695 |
0.63 |
VDAC2 |
7417 |
P45880 |
0.63 |
YWHAZ |
7534 |
P63104 |
0.63 |
TUBA1A |
7846 |
Q71U36 |
0.63 |
RPL23 |
9349 |
P62829 |
0.63 |
NUP93 |
9688 |
Q8N1F7 |
0.63 |
ARPC5 |
10092 |
O15511 |
0.63 |
ARPC4 |
10093 |
P59998 |
0.63 |
ACTR2 |
10097 |
P61160 |
0.63 |
TUBB4A |
10382 |
P04350 |
0.63 |
TUBB4B |
10383 |
P68371 |
0.63 |
PRDX3 |
10935 |
P30048 |
0.63 |
NRM |
11270 |
Q8IXM6 |
0.63 |
LIMCH1 |
22998 |
Q9UPQ0 |
0.63 |
PLD3 |
23646 |
Q8IV08 |
0.63 |
PRDX5 |
25824 |
P30044 |
0.63 |
HSD17B12 |
51144 |
Q53GQ0 |
0.63 |
LIMA1 |
51474 |
Q9UHB6 |
0.63 |
VPS29 |
51699 |
Q9UBQ0 |
0.63 |
ELP6 |
54859 |
Q0PNE2 |
0.63 |
UNC45A |
55898 |
Q9H3U1 |
0.63 |
TMEM43 |
79188 |
Q9BTV4 |
0.63 |
NPEPL1 |
79716 |
Q8NDH3 |
0.63 |
ANP32A-IT1 |
80035 |
N/A |
0.63 |
TUBB6 |
84617 |
Q9BUF5 |
0.63 |
HIST1H4A; HIST1H4B; HIST1H4C; HIST1H4D; HIST1H4E; HIST1H4F; HIST1H4H; HIST1H4I; HIST1H4J; HIST1H4K; HIST1H4L; HIST2H4A; HIST2H4B; HIST4H4 |
121504 |
P62805 |
0.63 |
DSTNP4 |
729454 |
N/A |
0.63 |
STAMBP |
10617 |
O95630 |
0.65 |
HSPA8 |
3312 |
P11142 |
0.70 |
VIM |
7431 |
P08670 |
0.70 |
NEDD4 |
4734 |
P46934 |
0.73 |
PSMD2 |
5708 |
Q13200 |
0.73 |
EPS15 |
2060 |
P42566 |
0.74 |
GJA1 |
2697 |
P17302 |
0.75 |
TFCP2 |
7024 |
Q12800 |
0.49 |
MID2 |
11043 |
Q9UJV3 |
0.52 |
NOV |
4856 |
P48745 |
0.55 |
PRKCB |
5579 |
P05771 |
0.55 |
PRKCG |
5582 |
P05129 |
0.55 |
CNST |
163882 |
Q6PJW8 |
0.56 |
CSK |
1445 |
P41240 |
0.59 |
NT5E |
4907 |
P21589 |
0.63 |
PSMD4 |
5710 |
P55036 |
0.63 |
GPR52 |
9293 |
Q9Y2T5 |
0.63 |
FAM189A2 |
9413 |
Q15884 |
0.63 |
TSPAN17 |
26262 |
Q96FV3 |
0.63 |
SLC39A4 |
55630 |
Q6P5W5 |
0.63 |
KCNK16 |
83795 |
Q96T55 |
0.63 |
HTR3C |
170572 |
Q8WXA8 |
0.63 |
ZACN |
353174 |
Q401N2 |
0.63 |
MAPK1 |
5594 |
P28482 |
0.66 |
MAPK3 |
5595 |
P27361 |
0.66 |
SGSM3 |
27352 |
Q96HU1 |
0.67 |
GJA5 |
2702 |
P36382 |
0.68 |
GJA3 |
2700 |
Q9Y6H8 |
0.73 |
SRC |
6714 |
P12931 |
0.73 |
UBQLN4 |
56893 |
Q9NRR5 |
0.79 |
PRKCE |
5581 |
Q02156 |
0.80 |
S100A1 |
6271 |
P23297 |
0.86 |
CSNK1D |
1453 |
P48730 |
0.87 |
CAV1 |
857 |
Q03135 |
0.88 |
MAPK7 |
5598 |
Q13164 |
0.88 |
PRKCA |
5578 |
P17252 |
0.90 |
TJP1 |
7082 |
Q07157 |
0.98 |