Protein Description

Gene Symbol NOTCH1
Entrez ID 4851
Uniprot ID P46531
Description notch 1
Chromosomal Location chr9: 136,494,444-136,545,862
Ontology GO ID GO Term Definition Evidence

BP

GO:0000122

negative regulation of transcription from RNA polymerase II promoter

Any process that stops, prevents, or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter.

ISS

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:0001708

cell fate specification

The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment.

IEA

BP

GO:0001837

epithelial to mesenchymal transition

A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.

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: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.

ISS

BP

GO:0002040

sprouting angiogenesis

The extension of new blood vessels from existing capillaries into avascular tissues resulting from the proliferation of blood vessel endothelial cells.

IEA

BP

GO:0002052

positive regulation of neuroblast proliferation

Any process that activates or increases the rate of neuroblast proliferation.

IEA

BP

GO:0002437

inflammatory response to antigenic stimulus

An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes.

IEA

BP

GO:0003157

endocardium development

The process whose specific outcome is the progression of the endocardium over time, from its formation to the mature structure. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers.

ISS

BP

GO:0003160

endocardium morphogenesis

The process in which the anatomical structure of the endocardium is generated and organized. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers.

ISS

BP

GO:0003162

atrioventricular node development

The process whose specific outcome is the progression of the atrioventricular (AV) node over time, from its formation to the mature structure. The AV node is part of the cardiac conduction system that controls the timing of ventricle contraction by receiving electrical signals from the sinoatrial (SA) node and relaying them to the His-Purkinje system.

IEA

BP

GO:0003169

coronary vein morphogenesis

The process in which the anatomical structures of veins of the heart are generated and organized.

ISS

BP

GO:0003180

aortic valve morphogenesis

The process in which the structure of the aortic valve is generated and organized.

IMP

BP

GO:0003181

atrioventricular valve morphogenesis

The process in which the structure of the atrioventricular valve is generated and organized.

ISS

BP

GO:0003184

pulmonary valve morphogenesis

The process in which the structure of the pulmonary valve is generated and organized.

IMP

BP

GO:0003192

mitral valve formation

The developmental process pertaining to the initial formation of the mitral valve from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable.

IMP

BP

GO:0003198

epithelial to mesenchymal transition involved in endocardial cushion formation

A transition where a cardiac epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell that will contribute to the formation of the endocardial cushion.

ISS

BP

GO:0003203

endocardial cushion morphogenesis

The process in which the anatomical structure of the endocardial cushion is generated and organized. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves.

ISS

BP

GO:0003207

cardiac chamber formation

The developmental process pertaining to the initial formation of a cardiac chamber from unspecified parts. A cardiac chamber is an enclosed cavity within the heart.

ISS

BP

GO:0003208

cardiac ventricle morphogenesis

The process in which the cardiac ventricle is generated and organized. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart.

ISS

BP

GO:0003209

cardiac atrium morphogenesis

The process in which the cardiac atrium is generated and organized. A cardiac atrium receives blood from a vein and pumps it to a cardiac ventricle.

ISS

BP

GO:0003213

cardiac right atrium morphogenesis

The process in which the right cardiac atrium is generated and organized.

ISS

BP

GO:0003214

cardiac left ventricle morphogenesis

The process in which the left cardiac ventricle is generated and organized.

ISS

BP

GO:0003219

cardiac right ventricle formation

The developmental process pertaining to the initial formation of a right cardiac ventricle from unspecified parts.

IEA

BP

GO:0003222

ventricular trabecula myocardium morphogenesis

The process in which the anatomical structures of the trabecular cardiac ventricle muscle are generated and organized.

ISS

BP

GO:0003241

growth involved in heart morphogenesis

Developmental growth that contributes to the shaping of the heart.

ISS

BP

GO:0003256

regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation

Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the differentiation of a myocardial precursor cell.

ISS

BP

GO:0003270

Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation

The series of molecular signals initiated by binding of an extracellular ligand to a Notch receptor on the surface of the target cell contributing to the modulation of the frequency, rate or extent of cardioblast proliferation in the secondary heart field. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating.

IEA

BP

GO:0003273

cell migration involved in endocardial cushion formation

The orderly movement of a cell from one site to another that will contribute to the formation of an endocardial cushion. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves.

ISS

BP

GO:0003344

pericardium morphogenesis

The process in which the anatomical structure of the pericardium is generated and organized.

ISS

BP

GO:0006355

regulation of transcription, DNA-templated

Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

TAS

BP

GO:0006367

transcription initiation from RNA polymerase II promoter

Any process involved in the assembly of the RNA polymerase II preinitiation complex (PIC) at an RNA polymerase II promoter region of a DNA template, resulting in the subsequent synthesis of RNA from that promoter. The initiation phase includes PIC assembly and the formation of the first few bonds in the RNA chain, including abortive initiation, which occurs when the first few nucleotides are repeatedly synthesized and then released. Promoter clearance, or release, is the transition between the initiation and elongation phases of transcription.

TAS

BP

GO:0006955

immune response

Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.

NAS

BP

GO:0006959

humoral immune response

An immune response mediated through a body fluid.

IEA

BP

GO:0007219

Notch signaling pathway

A series of molecular signals initiated by the binding of an extracellular ligand to the receptor Notch on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription.

IMP|TAS

BP

GO:0007221

positive regulation of transcription of Notch receptor target

The activation of transcription of specific genes as a result of Notch signaling, mediated by the Notch intracellular domain.

ISS

BP

GO:0007283

spermatogenesis

The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis.

IEA

BP

GO:0007368

determination of left/right symmetry

The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry.

ISS

BP

GO:0007386

compartment pattern specification

The regionalization process in which embryonic segments are divided into compartments that will result in differences in cell differentiation.

IEA

BP

GO:0007409

axonogenesis

De novo generation of a long process of a neuron, that carries efferent (outgoing) action potentials from the cell body towards target cells. Refers to the morphogenesis or creation of shape or form of the developing axon.

IEA

BP

GO:0007440

foregut morphogenesis

The process in which the anatomical structures of the foregut are generated and organized.

IEA

BP

GO:0007492

endoderm development

The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues.

IEA

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.

IMP

BP

GO:0008284

positive regulation of cell proliferation

Any process that activates or increases the rate or extent of cell proliferation.

IDA|IMP

BP

GO:0008285

negative regulation of cell proliferation

Any process that stops, prevents or reduces the rate or extent of cell proliferation.

IDA

BP

GO:0009912

auditory receptor cell fate commitment

The process in which the cellular identity of auditory hair cells is acquired and determined.

IEA

BP

GO:0010718

positive regulation of epithelial to mesenchymal transition

Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.

IMP

BP

GO:0010812

negative regulation of cell-substrate adhesion

Any process that decreases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules.

IDA

BP

GO:0010832

negative regulation of myotube differentiation

Any process that decreases the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse.

ISS

BP

GO:0014031

mesenchymal cell development

The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell.

ISS

BP

GO:0014807

regulation of somitogenesis

Any process that modulates the frequency, rate or extent of somitogenesis.

IEA

BP

GO:0021515

cell differentiation in spinal cord

The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells of the spinal cord. Differentiation includes the processes involved in commitment of a cell to a specific fate.

IEA

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.

IEA

BP

GO:0030216

keratinocyte differentiation

The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte.

IEA

BP

GO:0030279

negative regulation of ossification

Any process that stops, prevents, or reduces the frequency, rate or extent of bone formation.

ISS

BP

GO:0030324

lung development

The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax.

IEA

BP

GO:0030335

positive regulation of cell migration

Any process that activates or increases the frequency, rate or extent of cell migration.

ISS

BP

GO:0030513

positive regulation of BMP signaling pathway

Any process that activates or increases the frequency, rate or extent of BMP signaling pathway activity.

ISS

BP

GO:0030514

negative regulation of BMP signaling pathway

Any process that stops, prevents, or reduces the frequency, rate or extent of the BMP signaling pathway.

ISS

BP

GO:0030900

forebrain development

The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions).

IEA

BP

GO:0031069

hair follicle morphogenesis

The process in which the anatomical structures of the hair follicle are generated and organized.

IEA

BP

GO:0031100

animal organ regeneration

The regrowth of a lost or destroyed animal organ.

IEA

BP

GO:0031960

response to corticosteroid

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 corticosteroid hormone stimulus. A corticosteroid is a steroid hormone that is produced in the adrenal cortex. Corticosteroids are involved in a wide range of physiologic systems such as stress response, immune response and regulation of inflammation, carbohydrate metabolism, protein catabolism, blood electrolyte levels, and behavior. They include glucocorticoids and mineralocorticoids.

IEA

BP

GO:0032495

response to muramyl dipeptide

Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muramyl dipeptide stimulus. Muramyl dipeptide is derived from peptidoglycan.

IEA

BP

GO:0032496

response to lipopolysaccharide

Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.

IEA

BP

GO:0035116

embryonic hindlimb morphogenesis

The process, occurring in the embryo, by which the anatomical structures of the hindlimbs are generated and organized. The hindlimbs are the posterior limbs of an animal.

IEA

BP

GO:0035148

tube formation

Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow.

IMP

BP

GO:0035914

skeletal muscle cell differentiation

The process in which a relatively unspecialized cell acquires specialized features of a skeletal muscle cell, a somatic cell located in skeletal muscle.

IEA

BP

GO:0035924

cellular response to vascular endothelial growth factor 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 vascular endothelial growth factor stimulus.

IDA

BP

GO:0042246

tissue regeneration

The regrowth of lost or destroyed tissues.

IEA

BP

GO:0043065

positive regulation of apoptotic process

Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.

IEA

BP

GO:0043086

negative regulation of catalytic activity

Any process that stops or reduces the activity of an enzyme.

ISS

BP

GO:0045070

positive regulation of viral genome replication

Any process that activates or increases the frequency, rate or extent of viral genome replication.

IEA

BP

GO:0045603

positive regulation of endothelial cell differentiation

Any process that activates or increases the frequency, rate or extent of endothelial cell differentiation.

IEA

BP

GO:0045608

negative regulation of auditory receptor cell differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of auditory hair cell differentiation.

IEA

BP

GO:0045618

positive regulation of keratinocyte differentiation

Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation.

IEA

BP

GO:0045662

negative regulation of myoblast differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.

IMP

BP

GO:0045668

negative regulation of osteoblast differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation.

ISS

BP

GO:0045747

positive regulation of Notch signaling pathway

Any process that activates or increases the frequency, rate or extent of the Notch signaling pathway.

IEA

BP

GO:0045892

negative regulation of transcription, DNA-templated

Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.

ISS

BP

GO:0045893

positive regulation of transcription, DNA-templated

Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.

ISS

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|ISS

BP

GO:0045955

negative regulation of calcium ion-dependent exocytosis

Any process that stops, prevents, or reduces the frequency, rate or extent of calcium ion-dependent exocytosis.

IEA

BP

GO:0046427

positive regulation of JAK-STAT cascade

Any process that activates or increases the frequency, rate or extent of the JAK-STAT signaling pathway activity.

ISS

BP

GO:0046533

negative regulation of photoreceptor cell differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of photoreceptor cell differentiation. An example of this process is found in Drosophila melanogaster.

IEA

BP

GO:0048103

somatic stem cell division

The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line.

IEA

BP

GO:0048708

astrocyte differentiation

The process in which a relatively unspecialized cell acquires the specialized features of an astrocyte. An astrocyte is the most abundant type of glial cell. Astrocytes provide support for neurons and regulate the environment in which they function.

IEA

BP

GO:0048709

oligodendrocyte differentiation

The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system.

IEA

BP

GO:0048711

positive regulation of astrocyte differentiation

Any process that activates or increases the frequency, rate or extent of astrocyte differentiation.

ISS

BP

GO:0048715

negative regulation of oligodendrocyte differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of oligodendrocyte differentiation.

ISS

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.

IEA

BP

GO:0050434

positive regulation of viral transcription

Any process that activates or increases the frequency, rate or extent of viral transcription.

IEA

BP

GO:0050679

positive regulation of epithelial cell proliferation

Any process that activates or increases the rate or extent of epithelial cell proliferation.

IEA

BP

GO:0050768

negative regulation of neurogenesis

Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the origin and formation of neurons.

ISS

BP

GO:0055008

cardiac muscle tissue morphogenesis

The process in which the anatomical structures of cardiac muscle tissue are generated and organized.

ISS

BP

GO:0060038

cardiac muscle cell proliferation

The expansion of a cardiac muscle cell population by cell division.

IEA

BP

GO:0060045

positive regulation of cardiac muscle cell proliferation

Any process that activates or increases the frequency, rate or extent of cardiac muscle cell proliferation.

ISS

BP

GO:0060253

negative regulation of glial cell proliferation

Any process that stops or decreases the rate or extent of glial cell proliferation.

ISS

BP

GO:0060271

cilium morphogenesis

A process that is carried out at the cellular level and in which the structure of a cilium is organized.

ISS

BP

GO:0060317

cardiac epithelial to mesenchymal transition

A transition where a cardiac epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.

ISS

BP

GO:0060411

cardiac septum morphogenesis

The process in which the anatomical structure of a cardiac septum is generated and organized. A cardiac septum is a partition that separates parts of the heart.

ISS

BP

GO:0060412

ventricular septum morphogenesis

The developmental process in which a ventricular septum is generated and organized. A ventricular septum is an anatomical structure that separates the lower chambers (ventricles) of the heart from one another.

IMP

BP

GO:0060528

secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development

The process in which a relatively unspecialized epithelial cell acquires specialized features of a secretory columnal luminar epithelial cell of the prostate.

IEA

BP

GO:0060740

prostate gland epithelium morphogenesis

The process in which the anatomical structures of epithelia of the prostate gland are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube.

IEA

BP

GO:0060768

regulation of epithelial cell proliferation involved in prostate gland development

Any process that modulates the rate, frequency or extent of epithelial cell proliferation that contributes to the progression of the prostate gland over time.

IEA

BP

GO:0060842

arterial endothelial cell differentiation

The process in which a relatively unspecialized endothelial cell acquires specialized features of an arterial endothelial cell, a thin flattened cell that lines the inside surfaces of arteries.

ISS

BP

GO:0060843

venous endothelial cell differentiation

The process in which a relatively unspecialized endothelial cell acquires specialized features of a venous endothelial cell, a thin flattened cell that lines the inside surfaces of veins.

ISS

BP

GO:0060948

cardiac vascular smooth muscle cell development

The process whose specific outcome is the progression of a cardiac vascular smooth muscle cell over time, from its formation to the mature state.

ISS

BP

GO:0060956

endocardial cell differentiation

The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of an endocardial cell. An endocardial cell is a specialized endothelial cell that makes up the endocardium portion of the heart. The endocardium is the innermost layer of tissue of the heart, and lines the heart chambers.

ISS

BP

GO:0060979

vasculogenesis involved in coronary vascular morphogenesis

The differentiation of endothelial cells from progenitor cells that contributes to blood vessel development in the heart, and the de novo formation of blood vessels and tubes.

ISS

BP

GO:0060982

coronary artery morphogenesis

The process in which the anatomical structures of coronary arteries are generated and organized. Coronary arteries are blood vessels that transport blood to the heart muscle.

ISS

BP

GO:0061314

Notch signaling involved in heart development

The series of molecular signals initiated by binding of an extracellular ligand to a Notch receptor on the surface of the target cell and contributing to the progression of the heart over time.

IMP

BP

GO:0061384

heart trabecula morphogenesis

The process of shaping a trabecula in the heart. A trabecula is a small, often microscopic, tissue element in the form of a small beam, strut or rod, which generally has a mechanical function. Trabecula are usually but not necessarily, composed of dense collagenous tissue.

ISS

BP

GO:0061419

positive regulation of transcription from RNA polymerase II promoter in response to hypoxia

Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a hypoxia stimulus.

ISS

BP

GO:0070986

left/right axis specification

The establishment, maintenance and elaboration of the left/right axis. The left/right axis is defined by a line that runs orthogonal to both the anterior/posterior and dorsal/ventral axes. Each side is defined from the viewpoint of the organism rather of the observer (as per anatomical axes).

IEA

BP

GO:0071372

cellular response to follicle-stimulating hormone 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 follicle-stimulating hormone stimulus.

IDA

BP

GO:0072017

distal tubule development

The process whose specific outcome is the progression of the distal tubule over time, from its formation to the mature structure. In mammals, the distal tubule is a nephron tubule that begins at the macula densa and extends to the connecting tubule.

IEA

BP

GO:0072044

collecting duct development

The process whose specific outcome is the progression of a collecting duct 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. It is the final common path through which urine flows before entering the ureter and then emptying into the bladder.

IEA

BP

GO:0072144

glomerular mesangial cell development

The process whose specific outcome is the progression of a glomerular mesangial cell in the kidney over time, from its formation to the mature structure.

IEA

BP

GO:0072602

interleukin-4 secretion

The regulated release of interleukin-4 from a cell.

IEA

BP

GO:0090051

negative regulation of cell migration involved in sprouting angiogenesis

Any process that decreases the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis.

IDA

BP

GO:0090090

negative regulation of canonical Wnt signaling pathway

Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.

IEA

BP

GO:0097150

neuronal stem cell population maintenance

Any process in by an organism or tissue maintains a population of neuronal stem cells.

IEP

BP

GO:1901201

regulation of extracellular matrix assembly

Any process that modulates the frequency, rate or extent of extracellular matrix assembly.

ISS

BP

GO:1902263

apoptotic process involved in embryonic digit morphogenesis

Any apoptotic process that is involved in embryonic digit morphogenesis.

IEA

BP

GO:1903849

positive regulation of aorta morphogenesis

Any process that activates or increases the frequency, rate or extent of aorta morphogenesis.

IEA

BP

GO:2000737

negative regulation of stem cell differentiation

Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation.

IMP

BP

GO:2000811

negative regulation of anoikis

Any process that stops, prevents or reduces the frequency, rate or extent of anoikis.

IMP

BP

GO:2000974

negative regulation of pro-B cell differentiation

Any process that stops, prevents or reduces the frequency, rate or extent of pro-B cell differentiation.

ISS

BP

GO:2001027

negative regulation of endothelial cell chemotaxis

Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell chemotaxis.

IDA

CC

GO:0000139

Golgi membrane

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

TAS

CC

GO:0001669

acrosomal vesicle

A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome.

IEA

CC

GO:0002193

MAML1-RBP-Jkappa- ICN1 complex

A protein complex that consists of the intracellular domain of Notch1 (ICN1), the DNA-binding transcription factor RBP-Jkappa, and the transcriptional coactivator Mastermind-like-1 (MAML1); the complex is involved in transcriptional activation in response to Notch-mediated signaling.

IDA

CC

GO:0005576

extracellular region

The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.

TAS

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|TAS

CC

GO:0005654

nucleoplasm

That part of the nuclear content other than the chromosomes or the nucleolus.

TAS

CC

GO:0005789

endoplasmic reticulum membrane

The lipid bilayer surrounding the endoplasmic reticulum.

TAS

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.

TAS

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.

TAS

CC

GO:0005912

adherens junction

A cell junction at which anchoring proteins (cadherins or integrins) extend through the plasma membrane and are attached to actin filaments.

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.

IEA

CC

GO:0016324

apical plasma membrane

The region of the plasma membrane located at the apical end of the cell.

ISS

CC

GO:0043235

receptor complex

Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

IDA

MF

GO:0001047

core promoter binding

Interacting selectively and non-covalently with the regulatory region composed of the transcription start site and binding sites for the basal transcription machinery. Binding may occur as a sequence specific interaction or as an interaction observed only once a factor has been recruited to the DNA by other factors.

ISS

MF

GO:0001190

transcriptional activator activity, RNA polymerase II transcription factor binding

Interacting selectively and non-covalently with an RNA polymerase II transcription factor, which may be a single protein or a complex, in order to increase the frequency, rate or extent of transcription from an RNA polymerase II promoter. A protein binding transcription factor may or may not also interact with the template nucleic acid (either DNA or RNA) as well.

ISS

MF

GO:0003700

transcription factor activity, sequence-specific DNA binding

Interacting selectively and non-covalently with a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex.

IEA

MF

GO:0004857

enzyme inhibitor activity

Binds to and stops, prevents or reduces the activity of an enzyme.

ISS

MF

GO:0004872

receptor activity

Combining with an extracellular or intracellular messenger to initiate a change in cell activity.

IEA

MF

GO:0005112

Notch binding

Interacting selectively and non-covalently with the Notch (N) protein, a surface receptor.

IEA

MF

GO:0005509

calcium ion binding

Interacting selectively and non-covalently with calcium ions (Ca2+).

IEA

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:0019899

enzyme binding

Interacting selectively and non-covalently with any enzyme.

ISS

MF

GO:0031490

chromatin DNA binding

Interacting selectively and non-covalently with DNA that is assembled into chromatin.

IEA

MF

GO:0043565

sequence-specific DNA binding

Interacting selectively and non-covalently with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.

IEA

MF

GO:0046982

protein heterodimerization activity

Interacting selectively and non-covalently with a nonidentical protein to form a heterodimer.

IEA

Domain ID Description

IPR000152

EGF-type aspartate/asparagine hydroxylation site

IPR000742

EGF-like domain

IPR000800

Notch domain

IPR001881

EGF-like calcium-binding domain

IPR002110

Ankyrin repeat

IPR008297

Notch

IPR009030

Growth factor receptor cysteine-rich domain

IPR010660

Notch, NOD domain

IPR011656

Notch, NODP domain

IPR013032

EGF-like, conserved site

IPR018097

EGF-like calcium-binding, conserved site

IPR020683

Ankyrin repeat-containing domain

IPR022362

Neurogenic locus Notch 1

IPR024600

Domain of unknown function DUF3454, notch

Pathway ID Pathway Term Pathway Source

hsa01522

Endocrine resistance

KEGG

hsa04320

Dorso-ventral axis formation

KEGG

hsa04330

Notch signaling pathway

KEGG

hsa04658

Th1 and Th2 cell differentiation

KEGG

hsa04919

Thyroid hormone signaling pathway

KEGG

hsa05020

Prion diseases

KEGG

hsa05206

MicroRNAs in cancer

KEGG

hsa05224

Breast cancer

KEGG

WP2361

Gastric Cancer Network 1

WikiPathways

WP2849

Hematopoietic Stem Cell Differentiation

WikiPathways

WP3413

NOTCH1 regulation of human endothelial cell calcification

WikiPathways

WP2572

Primary Focal Segmental Glomerulosclerosis FSGS

WikiPathways

WP2848

Differentiation Pathway

WikiPathways

WP3678

Amplification and Expansion of Oncogenic Pathways as Metastatic Traits

WikiPathways

WP2064

Neural Crest Differentiation

WikiPathways

WP61

Notch Signaling Pathway

WikiPathways

WP3845

Canonical and Non-canonical Notch signaling

WikiPathways

WP268

Notch Signaling Pathway

WikiPathways

WP2853

Endoderm Differentiation

WikiPathways

WP1591

Heart Development

WikiPathways

WP3927

BMP Signaling Pathway in Eyelid Development

WikiPathways

WP2854

Gene regulatory network modelling somitogenesis

WikiPathways

WP2406

Cardiac Progenitor Differentiation

WikiPathways

WP3651

Pathways Affected in Adenoid Cystic Carcinoma

WikiPathways

h_ps1Pathway

Presenilin action in Notch and Wnt signaling

BioCarta

h_notchpathway

Proteolysis and Signaling Pathway of Notch

BioCarta

h_hesPathway

Segmentation Clock

BioCarta

UMLS CUI UMLS Term

C0000768

Congenital Abnormality

C0004114

Astrocytoma

C0006663

Calcinosis

C0007621

Neoplastic Cell Transformation

C0007873

Uterine Cervical Neoplasm

C0009375

Colonic Neoplasms

C0010606

Adenoid Cystic Carcinoma

C0017636

Glioblastoma

C0018798

Congenital Heart Defects

C0018824

Heart Valve Disease

C0023492

Leukemia, T-Cell

C0024299

Lymphoma

C0027765

Nervous System Disorder

C0036439

Scoliosis, Unspecified

C0038002

Splenomegaly

C0376634

Craniofacial Abnormalities

C0887833

Carcinoma, Pancreatic Ductal

C1458155

Mammary Neoplasms

C1961099

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Tissue Cell Type

adrenal gland

glandular cells

appendix

glandular cells

colon

glandular cells

gallbladder

glandular cells

lung

macrophages

lung

pneumocytes

rectum

glandular cells

stomach

glandular cells

testis

cells in seminiferous ducts

No databases found.

Pubmed ID Author Year Title

22904171

Kaur et al.

2012

Differential Gene Expression in Granulosa Cells from Polycystic Ovary Syndrome Patients with and without Insulin Resistance: Identification of Susceptibility Gene Sets through Network Analysis

Gene Symbol Entrez ID Uniprot ID Score

RELB

5971

Q01201

0.00

WNT3A

89780

P56704

0.00

HIF1AN

55662

Q9NWT6

0.49

BLOC1S1

2647

P78537

0.52

MEF2C

4208

Q06413

0.52

PSEN2

5664

P49810

0.52

RBP3

5949

P10745

0.52

POFUT1

23509

Q9H488

0.59

PARP1

142

P09874

0.63

APBB1

322

O00213

0.63

APP

351

P05067

0.63

RUNX1

861

Q01196

0.63

CCT6A

908

P40227

0.63

LRBA

987

P50851

0.63

CDC27

996

P30260

0.63

CHD4

1108

Q14839

0.63

DHX8

1659

Q14562

0.63

DHX15

1665

O43143

0.63

ERH

2079

P84090

0.63

XRCC6

2547

P12956

0.63

GPS1

2873

Q13098

0.63

HCFC1

3054

P51610

0.63

HCLS1

3059

P14317

0.63

HDAC1

3065

Q13547

0.63

NCKAP1L

3071

P55160

0.63

HIF1A

3091

Q16665

0.63

IFI16

3428

Q16666

0.63

KIF2A

3796

O00139

0.63

KPNB1

3837

Q14974

0.63

KPNA4

3839

O00629

0.63

TNPO1

3842

Q92973

0.63

IPO5

3843

O00410

0.63

LIMK2

3985

P53671

0.63

SMAD9

4093

O15198

0.63

MCM3

4172

P25205

0.63

MCM5

4174

P33992

0.63

NOTCH2

4853

Q04721

0.63

NOTCH3

4854

Q9UM47

0.63

PPP2CA

5515

P67775

0.63

PPP2CB

5516

P62714

0.63

PPP2R1A

5518

P30153

0.63

PPP2R2A

5520

P63151

0.63

PRKAA1

5562

Q13131

0.63

PRKDC

5591

P78527

0.63

MAPK1

5594

P28482

0.63

PTBP1

5725

P26599

0.63

RB1

5925

P06400

0.63

RBBP4

5928

Q09028

0.63

RFC1

5981

P35251

0.63

RFC4

5984

P35249

0.63

RFX1

5989

P22670

0.63

RING1

6015

Q06587

0.63

RNF2

6045

Q99496

0.63

ROCK1

6093

Q13464

0.63

RPL31

6160

P62899

0.63

HLTF

6596

Q14527

0.63

SMARCA4

6597

P51532

0.63

SMARCC1

6599

Q92922

0.63

SMARCC2

6601

Q8TAQ2

0.63

TCF12

6938

Q99081

0.63

TRAPPC10

7109

P48553

0.63

TOP2B

7155

Q02880

0.63

CCT3

7203

P49368

0.63

UBB

7314

P0CG47

0.63

VAV1

7409

P15498

0.63

USP7

7874

Q93009

0.63

USP11

8237

P51784

0.63

RBM10

8241

P98175

0.63

SMC1A

8243

Q14683

0.63

GFI1B

8328

Q5VTD9

0.63

SMARCA5

8467

O60264

0.63

CDC23

8697

Q9UJX2

0.63

SART1

9092

O43290

0.63

SMC3

9126

Q9UQE7

0.63

ARHGEF2

9181

Q92974

0.63

MED23

9439

Q9ULK4

0.63

RNF40

9810

O75150

0.63

ZBED4

9889

O75132

0.63

USP15

9958

Q9Y4E8

0.63

PTBP3

9991

O95758

0.63

RANBP9

10048

Q96S59

0.63

TRIM28

10155

Q13263

0.63

IKZF1

10320

Q13422

0.63

ARIH2

10425

O95376

0.63

TAB1

10454

Q15750

0.63

DDX17

10521

Q92841

0.63

PRPF8

10594

Q6P2Q9

0.63

CCT8

10694

P50990

0.63

ASCC3

10973

Q8N3C0

0.63

KIF3A

11127

Q9Y496

0.63

WDR6

11180

Q9NNW5

0.63

STK38

11329

Q15208

0.63

IKZF3

22806

Q9UKT9

0.63

IKZF2

22807

Q9UKS7

0.63

PPP6R1

22870

Q9UPN7

0.63

TRIM32

22954

Q13049

0.63

CNOT1

23019

A5YKK6

0.63

KDM1A

23028

O60341

0.63

PHF8

23133

Q9UPP1

0.63

LRCH1

23143

Q9Y2L9

0.63

MDN1

23195

Q9NU22

0.63

PDS5A

23244

Q29RF7

0.63

VPS39

23339

Q96JC1

0.63

SMCHD1

23347

A6NHR9

0.63

MAU2

23383

Q9Y6X3

0.63

PRPF6

24148

O94906

0.63

ARIH1

25820

Q9Y4X5

0.63

ARMC8

25852

Q8IUR7

0.63

WWTR1

25937

Q9GZV5

0.63

NBEA

26960

Q8NFP9

0.63

HTATSF1

27336

O43719

0.63

PRPF19

27339

Q9UMS4

0.63

C18orf8

29919

Q96DM3

0.63

EPN1

29924

Q9Y6I3

0.63

ANAPC5

51433

Q9UJX4

0.63

ANAPC7

51434

Q9UJX3

0.63

SRRT

51593

Q9BXP5

0.63

C14orf166

51637

Q9Y224

0.63

RIF1

55183

Q5UIP0

0.63

PBRM1

55193

Q86U86

0.63

MOB1A

55233

Q9H8S9

0.63

PPP6R3

55291

Q5H9R7

0.63

WDR11

55717

Q9BZH6

0.63

VPS11

55823

Q9H270

0.63

CAND1

55832

Q86VP6

0.63

GATAD2B

57459

Q8WXI9

0.63

XPO5

57510

Q9HAV4

0.63

RANBP10

57610

Q6VN20

0.63

ZBTB2

57621

Q8N680

0.63

WIZ

58525

O95785

0.63

MMS19

64210

Q96T76

0.63

ANAPC1

64682

Q9H1A4

0.63

BCL11B

64919

Q9C0K0

0.63

TBL1XR1

79718

Q9BZK7

0.63

MED25

81857

Q71SY5

0.63

TRAPPC9

83696

Q96Q05

0.63

SLFN11

91607

Q7Z7L1

0.63

CARMIL2

146206

Q6F5E8

0.63

SLFN5

162394

Q08AF3

0.63

CCZ1

221960

P86791

0.63

FRYL

285527

O94915

0.63

CAMK4

814

Q16566

0.65

NUMBL

9253

Q9Y6R0

0.65

CTNNB1

1499

P35222

0.68

PIK3CA

5290

P42336

0.72

CBL

867

P22681

0.75

PIN1

5300

Q13526

0.75

XIAP

331

P98170

0.79

LCK

3932

P06239

0.83

RELA

5970

Q04206

0.83

NOTCH1

4851

P46531

0.85

EP300

2033

Q09472

0.86

LEF1

51176

Q9UJU2

0.86

NOV

4856

P48745

0.88

NFKB1

4790

P19838

0.90

RBPJ

3516

Q06330

0.99

CCND1

595

P24385

0.00

CDC42

998

P60953

0.00

CFD

1675

P00746

0.00

DNM1

1759

Q05193

0.00

DVL2

1856

O14641

0.00

DVL3

1857

Q92997

0.00

HES1

3280

Q14469

0.00

IL7R

3575

P16871

0.00

DTX3L

151636

Q8TDB6

0.00

LATS2

26524

Q9NRM7

0.49

TMEM17

200728

Q86X19

0.49

AKT1

207

P31749

0.52

APBA1

320

Q02410

0.52

ILK

3611

Q13418

0.52

FURIN

5045

P09958

0.52

USP12P1

9959

N/A

0.52

WDR12

55759

Q9GZL7

0.52

WDR48

57599

Q8TAF3

0.52

USP12

219333

O75317

0.52

KAT2A

2648

Q92830

0.55

PIK3CG

5294

P48736

0.62

RND3

390

P61587

0.63

ARRB1

408

P49407

0.63

CACNA1A

773

O00555

0.63

LFNG

3955

Q8NES3

0.63

MFNG

4242

O00587

0.63

TGFBR1

7046

P36897

0.63

NEDD4L

23327

Q96PU5

0.63

DLL4

54567

Q9NR61

0.63

ANKRD44

91526

Q8N8A2

0.63

REL

5966

Q04864

0.65

ADAM17

6868

P78536

0.65

EIF3F

8665

O00303

0.65

KAT2B

8850

Q92831

0.65

MAML2

84441

Q8IZL2

0.65

SNAI1

6615

O95863

0.68

EGFL7

51162

Q9UHF1

0.68

RUNX3

864

Q13761

0.70

DTX2

113878

Q86UW9

0.70

KAT5

10524

Q92993

0.73

WWP1

11059

Q9H0M0

0.76

ITCH

83737

Q96J02

0.78

MDM2

4193

Q00987

0.80

DLL1

28514

O00548

0.83

MAML3

55534

Q96JK9

0.83

CNTN1

1272

Q12860

0.84

JAG2

3714

Q9Y219

0.86

NUMB

8650

P49757

0.87

GSK3B

2932

P49841

0.88

YY1

7528

P25490

0.88

MAML1

9794

Q92585

0.90

SNW1

22938

Q13573

0.90

PSEN1

5663

P49768

0.91

DTX1

1840

Q86Y01

0.94

FBXW7

55294

Q969H0

0.94

SMAD3

4088

P84022

0.95

JAG1

182

P78504

0.97