Gene Symbol | PSEN1 |
Entrez ID | 5663 |
Uniprot ID | P49768 |
Description | presenilin 1 |
Chromosomal Location | chr14: 73,136,418-73,223,691 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000045 |
autophagosome assembly |
The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm. |
IEA |
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. |
IEA |
BP |
GO:0000186 |
activation of MAPKK activity |
The initiation of the activity of the inactive enzyme MAP kinase kinase (MAPKK). |
IEA |
BP |
GO:0001568 |
blood vessel development |
The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. |
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:0001756 |
somitogenesis |
The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo. |
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:0001921 |
positive regulation of receptor recycling |
Any process that activates or increases the frequency, rate or extent of receptor recycling. |
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:0002244 |
hematopoietic progenitor cell differentiation |
The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. |
IEA |
BP |
GO:0002286 |
T cell activation involved in immune response |
The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response. |
IEA |
BP |
GO:0003407 |
neural retina development |
The progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells. |
IEA |
BP |
GO:0006486 |
protein glycosylation |
A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
IEA |
BP |
GO:0006509 |
membrane protein ectodomain proteolysis |
The proteolytic cleavage of transmembrane proteins and release of their ectodomain (extracellular domain). |
IDA |
BP |
GO:0006839 |
mitochondrial transport |
Transport of substances into, out of or within a mitochondrion. |
IEA |
BP |
GO:0006974 |
cellular response to DNA damage 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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
IEA |
BP |
GO:0006979 |
response to oxidative 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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
IEA |
BP |
GO:0007175 |
negative regulation of epidermal growth factor-activated receptor activity |
Any process that stops, prevents, or reduces the frequency, rate or extent of EGF-activated receptor activity. |
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. |
IEA |
BP |
GO:0007220 |
Notch receptor processing |
The series of successive proteolytic cleavages of the Notch protein, which result in an active form of the receptor. |
TAS |
BP |
GO:0007613 |
memory |
The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). |
IEA |
BP |
GO:0009791 |
post-embryonic development |
The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. |
IEA |
BP |
GO:0015031 |
protein transport |
The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
IEA |
BP |
GO:0015813 |
L-glutamate transport |
The directed movement of L-glutamate, the L enantiomer anion of 2-aminopentanedioic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
IEA |
BP |
GO:0015871 |
choline transport |
The directed movement of choline into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Choline (2-hydroxyethyltrimethylammonium) is an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine. |
IEA |
BP |
GO:0016080 |
synaptic vesicle targeting |
The process in which synaptic vesicles are directed to specific destination membranes, mediated by molecules at the vesicle membrane and target membrane surfaces. |
IEA |
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. |
IMP |
BP |
GO:0016485 |
protein processing |
Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
IDA |
BP |
GO:0021795 |
cerebral cortex cell migration |
The orderly movement of cells from one site to another in the cerebral cortex. |
IEA |
BP |
GO:0021870 |
Cajal-Retzius cell differentiation |
The process in which a neuroblast acquires specialized structural and/or functional features of a Cajal-Retzius cell, one of a transient population of pioneering neurons in the cerebral cortex. These cells are slender bipolar cells of the developing marginal zone. One feature of these cells in mammals is that they express the Reelin gene. |
IEA |
BP |
GO:0021904 |
dorsal/ventral neural tube patterning |
The process in which the neural tube is regionalized in the dorsoventral axis. |
IEA |
BP |
GO:0030326 |
embryonic limb morphogenesis |
The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. A limb is an appendage of an animal used for locomotion or grasping. |
IEA |
BP |
GO:0032436 |
positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
Any process that activates or increases the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
IEA |
BP |
GO:0032469 |
endoplasmic reticulum calcium ion homeostasis |
Any process involved in the maintenance of an internal steady state of calcium ions within the endoplasmic reticulum of a cell or between the endoplasmic reticulum and its surroundings. |
IDA|IGI |
BP |
GO:0034205 |
beta-amyloid formation |
The generation of beta-amyloid by cleavage of the amyloid precursor protein (APP). |
IEA |
BP |
GO:0035556 |
intracellular signal transduction |
The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
IEA |
BP |
GO:0042325 |
regulation of phosphorylation |
Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. |
IDA |
BP |
GO:0042987 |
amyloid precursor protein catabolic process |
The chemical reactions and pathways resulting in the breakdown of amyloid precursor protein (APP), the precursor of beta-amyloid, a glycoprotein associated with Alzheimer's disease. |
TAS |
BP |
GO:0043011 |
myeloid dendritic cell differentiation |
The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. |
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:0043066 |
negative regulation of apoptotic process |
Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
IDA |
BP |
GO:0043085 |
positive regulation of catalytic activity |
Any process that activates or increases the activity of an enzyme. |
IDA |
BP |
GO:0043393 |
regulation of protein binding |
Any process that modulates the frequency, rate or extent of protein binding. |
IEA |
BP |
GO:0043406 |
positive regulation of MAP kinase activity |
Any process that activates or increases the frequency, rate or extent of MAP kinase activity. |
IEA |
BP |
GO:0043524 |
negative regulation of neuron apoptotic process |
Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
IEA |
BP |
GO:0043589 |
skin morphogenesis |
The process in which the anatomical structures of the skin are generated and organized. 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, sensitive and vascular dermis (cutis, corium or true skin) composed mostly of connective tissue. |
IEA |
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. |
IMP |
BP |
GO:0048167 |
regulation of synaptic plasticity |
A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers. |
IEA |
BP |
GO:0048538 |
thymus development |
The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components. |
IEA |
BP |
GO:0048666 |
neuron development |
The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. |
IEA |
BP |
GO:0048705 |
skeletal system morphogenesis |
The process in which the anatomical structures of the skeleton are generated and organized. |
IEA |
BP |
GO:0048854 |
brain morphogenesis |
The process in which the anatomical structures of the brain are generated and organized. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
IEA |
BP |
GO:0050673 |
epithelial cell proliferation |
The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. |
IEA |
BP |
GO:0050771 |
negative regulation of axonogenesis |
Any process that stops, prevents, or reduces the frequency, rate or extent of axonogenesis. |
IEA |
BP |
GO:0050820 |
positive regulation of coagulation |
Any process that activates or increases the frequency, rate or extent of coagulation. |
IEA |
BP |
GO:0050852 |
T cell receptor signaling pathway |
A series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
IEA |
BP |
GO:0051402 |
neuron apoptotic process |
Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. |
IEA |
BP |
GO:0051444 |
negative regulation of ubiquitin-protein transferase activity |
Any process that stops, prevents, or reduces the frequency, rate or extent of ubiquitin transferase activity. |
IEA |
BP |
GO:0051563 |
smooth endoplasmic reticulum calcium ion homeostasis |
Any process involved in the maintenance of an internal steady state of calcium ions within the smooth endoplasmic reticulum of a cell or between the smooth endoplasmic reticulum and its surroundings. |
IBA |
BP |
GO:0051966 |
regulation of synaptic transmission, glutamatergic |
Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. |
IEA |
BP |
GO:0060070 |
canonical Wnt signaling pathway |
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. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes. |
IBA |
BP |
GO:0060075 |
regulation of resting membrane potential |
Any process that modulates the establishment or extent of a resting potential, the electrical charge across the plasma membrane, with the interior of the cell negative with respect to the exterior. The resting potential is the membrane potential of a cell that is not stimulated to be depolarized or hyperpolarized. |
IEA |
BP |
GO:0060999 |
positive regulation of dendritic spine development |
Any process that increases the rate, frequency, or extent of dendritic spine development, the process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure. |
IMP |
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. |
IEA |
BP |
GO:2000059 |
negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process |
Any process that stops, prevents, or reduces the frequency, rate or extent of protein ubiquitination involved in ubiquitin-dependent protein catabolic process. |
IEA |
BP |
GO:2001234 |
negative regulation of apoptotic signaling pathway |
Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway. |
IEA |
CC |
GO:0000139 |
Golgi membrane |
The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
IEA |
CC |
GO:0000776 |
kinetochore |
A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
IDA |
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. |
IDA |
CC |
GO:0005640 |
nuclear outer membrane |
The outer, i.e. cytoplasm-facing, lipid bilayer of the nuclear envelope; continuous with the endoplasmic reticulum of the cell and sometimes studded with ribosomes. |
IDA |
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:0005743 |
mitochondrial inner membrane |
The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
IEA |
CC |
GO:0005765 |
lysosomal membrane |
The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
IEA |
CC |
GO:0005783 |
endoplasmic reticulum |
The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
IDA |
CC |
GO:0005789 |
endoplasmic reticulum membrane |
The lipid bilayer surrounding the endoplasmic reticulum. |
IEA |
CC |
GO:0005790 |
smooth endoplasmic reticulum |
The smooth endoplasmic reticulum (smooth ER or SER) has no ribosomes attached to it. The smooth ER is the recipient of the proteins synthesized in the rough ER. Those proteins to be exported are passed to the Golgi complex, the resident proteins are returned to the rough ER and the lysosomal proteins after phosphorylation of their mannose residues are passed to the lysosomes. Glycosylation of the glycoproteins also continues. The smooth ER is the site of synthesis of lipids, including the phospholipids. The membranes of the smooth ER also contain enzymes that catalyze a series of reactions to detoxify both lipid-soluble drugs and harmful products of metabolism. Large quantities of certain compounds such as phenobarbital cause an increase in the amount of the smooth ER. |
IDA |
CC |
GO:0005791 |
rough endoplasmic reticulum |
The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae. |
IDA |
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. |
IDA |
CC |
GO:0005813 |
centrosome |
A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
IDA |
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. |
IDA |
CC |
GO:0009986 |
cell surface |
The external part of the cell wall and/or plasma membrane. |
IEA |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
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. |
TAS |
CC |
GO:0016235 |
aggresome |
An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules. |
IDA |
CC |
GO:0030054 |
cell junction |
A cellular component that forms a specialized region of connection between two or more cells or between a cell and the extracellular matrix. At a cell junction, anchoring proteins extend through the plasma membrane to link cytoskeletal proteins in one cell to cytoskeletal proteins in neighboring cells or to proteins in the extracellular matrix. |
IDA |
CC |
GO:0030424 |
axon |
The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
IEA |
CC |
GO:0030426 |
growth cone |
The migrating motile tip of a growing nerve cell axon or dendrite. |
IEA |
CC |
GO:0031410 |
cytoplasmic vesicle |
A vesicle found in the cytoplasm of a cell. |
IEA |
CC |
GO:0031594 |
neuromuscular junction |
The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
IEA |
CC |
GO:0031965 |
nuclear membrane |
Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
IDA |
CC |
GO:0035253 |
ciliary rootlet |
A cytoskeleton-like structure, originating from the basal body at the proximal end of a cilium, and extending proximally toward the cell nucleus. Rootlets are typically 80-100 nm in diameter and contain cross striae distributed at regular intervals of approximately 55-70 nm. |
IEA |
CC |
GO:0043025 |
neuronal cell body |
The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
IEA |
CC |
GO:0043198 |
dendritic shaft |
Cylindric portion of the dendrite, directly stemming from the perikaryon, and carrying the dendritic spines. |
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. |
IDA |
CC |
GO:0070765 |
gamma-secretase complex |
A protein complex that has aspartic-type endopeptidase activity, and contains a catalytic subunit, presenilin (PS), that is a prototypical member of the GxGD-type aspartyl peptidases. The complex also contains additional subunits, including nicastrin, APH-1, PEN-2, and a regulatory subunit, CD147. Gamma-secretase cleaves several transmembrane proteins including the cell surface receptor Notch and the beta-amyloid precursor protein. |
IDA |
CC |
GO:0098793 |
presynapse |
The part of a synapse that is part of the presynaptic cell. |
IEA |
MF |
GO:0004175 |
endopeptidase activity |
Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. |
IDA |
MF |
GO:0004190 |
aspartic-type endopeptidase activity |
Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which a water molecule bound by the side chains of aspartic residues at the active center acts as a nucleophile. |
IEA |
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. |
IMP |
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:0008013 |
beta-catenin binding |
Interacting selectively and non-covalently with the beta subunit of the catenin complex. |
IPI |
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. |
IPI |
MF |
GO:0045296 |
cadherin binding |
Interacting selectively and non-covalently with cadherin, a type I membrane protein involved in cell adhesion. |
IBA |
Domain ID | Description |
---|---|
IPR001108 |
Peptidase A22A, presenilin |
IPR002031 |
Peptidase A22A, presenilin 1 |
IPR006639 |
Presenilin/signal peptide peptidase |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa04310 |
Wnt signaling pathway |
KEGG |
hsa04330 |
Notch signaling pathway |
KEGG |
hsa04722 |
Neurotrophin signaling pathway |
KEGG |
hsa05010 |
Alzheimer's disease |
KEGG |
WP2059 |
Alzheimers Disease |
WikiPathways |
WP61 |
Notch Signaling Pathway |
WikiPathways |
WP3845 |
Canonical and Non-canonical Notch signaling |
WikiPathways |
WP268 |
Notch Signaling Pathway |
WikiPathways |
h_appPathway |
Generation of amyloid b-peptide by PS1 |
BioCarta |
h_erbB4pathway |
g-Secretase mediated ErbB4 Signaling Pathway |
BioCarta |
h_HivnefPathway |
HIV-I Nef: negative effector of Fas and TNF |
BioCarta |
h_ps1Pathway |
Presenilin action in Notch and Wnt signaling |
BioCarta |
h_notchpathway |
Proteolysis and Signaling Pathway of Notch |
BioCarta |
UMLS CUI | UMLS Term |
---|---|
C0002395 |
Alzheimer'S Disease |
C0002726 |
Amyloidosis |
C0004045 |
Asphyxia Neonatorum |
C0007193 |
Cardiomyopathy, Dilated |
C0017661 |
Iga Glomerulonephritis |
C0018801 |
Heart Failure |
C0023186 |
Learning Disorders |
C0025261 |
Memory Disorders |
C0027746 |
Nerve Degeneration |
C0236642 |
Pick Disease Of The Brain |
C0338451 |
Frontotemporal Dementia |
C0338462 |
Semantic Dementia |
C0524851 |
Neurodegenerative Disorders |
C0751706 |
Primary Progressive Nonfluent Aphasia |
Tissue | Cell Type |
---|---|
bone marrow |
hematopoietic cells |
bronchus |
respiratory epithelial cells |
cerebral cortex |
neuronal cells |
colon |
glandular cells |
duodenum |
glandular cells |
endometrium |
glandular cells |
fallopian tube |
glandular cells |
gallbladder |
glandular cells |
nasopharynx |
respiratory epithelial cells |
placenta |
trophoblastic cells |
small intestine |
glandular cells |
stomach |
glandular cells |
testis |
Leydig cells |
thyroid gland |
glandular cells |
tonsil |
germinal center 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 |
---|---|---|---|
GDI1 |
2664 |
P31150 |
0.52 |
IL1R1 |
3554 |
P14778 |
0.52 |
NOTCH2 |
4853 |
Q04721 |
0.52 |
NOTCH3 |
4854 |
Q9UM47 |
0.52 |
NOTCH4 |
4855 |
Q99466 |
0.52 |
CYP2C8 |
1558 |
P10632 |
0.63 |
CYP2C18 |
1562 |
P33260 |
0.63 |
DAG1 |
1605 |
Q14118 |
0.63 |
ETFA |
2108 |
P13804 |
0.63 |
FGF13 |
2258 |
Q92913 |
0.63 |
GAPDH |
2597 |
P04406 |
0.63 |
HMGB1 |
3146 |
P09429 |
0.63 |
IRAK2 |
3656 |
O43187 |
0.63 |
NOS3 |
4846 |
P29474 |
0.63 |
NPR1 |
4881 |
P16066 |
0.63 |
OXCT1 |
5019 |
P55809 |
0.63 |
RAB3A |
5864 |
P20336 |
0.63 |
RAD23A |
5886 |
P54725 |
0.63 |
RHEB |
6009 |
Q15382 |
0.63 |
SCN1A |
6323 |
P35498 |
0.63 |
PRDX2 |
7001 |
P32119 |
0.63 |
UMPS |
7372 |
P11172 |
0.63 |
AP1M2 |
10053 |
Q9Y6Q5 |
0.63 |
TUBA1B |
10376 |
P68363 |
0.63 |
ERLIN2 |
11160 |
O94905 |
0.63 |
PDCD4 |
27250 |
Q53EL6 |
0.63 |
ITSN2 |
50618 |
Q9NZM3 |
0.63 |
TDP2 |
51567 |
O95551 |
0.63 |
FBXL12 |
54850 |
Q9NXK8 |
0.63 |
STAMBPL1 |
57559 |
Q96FJ0 |
0.63 |
KCNIP4 |
80333 |
Q6PIL6 |
0.63 |
PRAM1 |
84106 |
Q96QH2 |
0.63 |
DNER |
92737 |
Q8NFT8 |
0.63 |
TGFBR1 |
7046 |
P36897 |
0.65 |
TCF4 |
6925 |
P15884 |
0.68 |
GCDH |
2639 |
Q92947 |
0.72 |
PSMA5 |
5686 |
P28066 |
0.75 |
PSMB1 |
5689 |
P20618 |
0.75 |
ST13 |
6767 |
P50502 |
0.76 |
ECSIT |
51295 |
Q9BQ95 |
0.77 |
JUP |
3728 |
P14923 |
0.86 |
PSEN2 |
5664 |
P49810 |
0.87 |
CDH1 |
999 |
P12830 |
0.88 |
CTNND1 |
1500 |
O60716 |
0.89 |
NOTCH1 |
4851 |
P46531 |
0.91 |
PSEN1 |
5663 |
P49768 |
0.96 |
DHX9 |
1660 |
Q08211 |
0.49 |
DTNA |
1837 |
Q9Y4J8 |
0.49 |
NDUFS8 |
4728 |
O00217 |
0.49 |
CASP4 |
837 |
P49662 |
0.52 |
PIK3R1 |
5295 |
P27986 |
0.52 |
PRKACA |
5566 |
P17612 |
0.52 |
CASP1 |
834 |
P29466 |
0.55 |
CASP6 |
839 |
P55212 |
0.55 |
CASP8 |
841 |
Q14790 |
0.55 |
EFNB2 |
1948 |
P52799 |
0.55 |
MAPT |
4137 |
P10636 |
0.55 |
NDUFA9 |
4704 |
Q16795 |
0.55 |
PRKCZ |
5590 |
Q05513 |
0.55 |
DLL1 |
28514 |
O00548 |
0.59 |
ACTN1 |
87 |
P12814 |
0.63 |
APOE |
348 |
P02649 |
0.63 |
CFL1 |
1072 |
P23528 |
0.63 |
DSG2 |
1829 |
Q14126 |
0.63 |
ENSA |
2029 |
O43768 |
0.63 |
CIB1 |
10519 |
Q99828 |
0.63 |
YME1L1 |
10730 |
Q96TA2 |
0.63 |
TMED10 |
10972 |
P49755 |
0.63 |
EPB41L3 |
23136 |
Q9Y2J2 |
0.63 |
KANK2 |
25959 |
Q63ZY3 |
0.63 |
HTRA2 |
27429 |
O43464 |
0.63 |
GSAP |
54103 |
A4D1B5 |
0.63 |
RMDN3 |
55177 |
Q96TC7 |
0.63 |
EFHD1 |
80303 |
Q9BUP0 |
0.63 |
PLXDC2 |
84898 |
Q6UX71 |
0.63 |
UNK |
85451 |
Q9C0B0 |
0.63 |
VASN |
114990 |
Q6EMK4 |
0.63 |
RNF32 |
140545 |
Q9H0A6 |
0.63 |
CASP3 |
836 |
P42574 |
0.65 |
CASP7 |
840 |
P55210 |
0.65 |
BACE1 |
23621 |
P56817 |
0.67 |
DOCK3 |
1795 |
Q8IZD9 |
0.72 |
RPL10 |
6134 |
P27635 |
0.72 |
CLSTN1 |
22883 |
O94985 |
0.72 |
FBXW7 |
55294 |
Q969H0 |
0.73 |
ERN1 |
2081 |
O75460 |
0.74 |
BCL2L1 |
598 |
Q07817 |
0.75 |
RAB11A |
8766 |
P62491 |
0.75 |
APH1B |
83464 |
Q8WW43 |
0.75 |
CDC37 |
11140 |
Q16543 |
0.76 |
BCL2 |
596 |
P10415 |
0.77 |
CDK5 |
1020 |
Q00535 |
0.77 |
MTCH1 |
23787 |
Q9NZJ7 |
0.77 |
DSP |
1832 |
P15924 |
0.78 |
FLNB |
2317 |
O75369 |
0.79 |
CTNNA1 |
1495 |
P35221 |
0.83 |
TRAF6 |
7189 |
Q9Y4K3 |
0.84 |
HERPUD1 |
9709 |
Q15011 |
0.84 |
KCNIP3 |
30818 |
Q9Y2W7 |
0.84 |
CTNND2 |
1501 |
Q9UQB3 |
0.85 |
GSK3B |
2932 |
P49841 |
0.85 |
ICAM5 |
7087 |
Q9UMF0 |
0.86 |
GFAP |
2670 |
P14136 |
0.87 |
APP |
351 |
P05067 |
0.88 |
TCF7L2 |
6934 |
Q9NQB0 |
0.88 |
FLNA |
2316 |
P21333 |
0.89 |
PKP4 |
8502 |
Q99569 |
0.89 |
UBQLN1 |
29979 |
Q9UMX0 |
0.90 |
PSENEN |
55851 |
Q9NZ42 |
0.92 |
APBA1 |
320 |
Q02410 |
0.95 |
APH1A |
51107 |
Q96BI3 |
0.96 |
CTNNB1 |
1499 |
P35222 |
0.97 |
NCSTN |
23385 |
Q92542 |
0.99 |