| Gene Symbol | TH |
| Entrez ID | 7054 |
| Uniprot ID | P07101 |
| Description | tyrosine hydroxylase |
| Chromosomal Location | chr11: 2,163,929-2,171,877 |
| Ontology | GO ID | GO Term | Definition | Evidence |
|---|---|---|---|---|
BP | GO:0001666 | response to hypoxia |
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 stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. | IDA |
BP | GO:0001963 | synaptic transmission, dopaminergic |
The process of communication from a neuron to another neuron across a synapse using the neurotransmitter dopamine. | ISS |
BP | GO:0001975 | response to amphetamine |
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 an amphetamine stimulus. Amphetamines consist of a group of compounds related to alpha-methylphenethylamine. | IEA |
BP | GO:0003007 | heart morphogenesis |
The developmental process in which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. | NAS |
BP | GO:0006585 | dopamine biosynthetic process from tyrosine |
The chemical reactions and pathways resulting in the formation of dopamine (3,4-dihydroxyphenylethylamine) from L-tyrosine, via the metabolic precursor 3,4-dihydroxy-L-phenylalanine (L-dopa). Dopamine is a catecholamine neurotransmitter and a metabolic precursor of norepinephrine and epinephrine. | NAS |
BP | GO:0006631 | fatty acid metabolic process |
The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. | IEA |
BP | GO:0006665 | sphingolipid metabolic process |
The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). | 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. | ISS |
BP | GO:0007601 | visual perception |
The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. | ISS |
BP | GO:0007605 | sensory perception of sound |
The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. | IEA |
BP | GO:0007612 | learning |
Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience. | ISS |
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). | ISS |
BP | GO:0007617 | mating behavior |
The behavioral interactions between organisms for the purpose of mating, or sexual reproduction resulting in the formation of zygotes. | IEA |
BP | GO:0007626 | locomotory behavior |
The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions. | ISS |
BP | GO:0008016 | regulation of heart contraction |
Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. | ISS |
BP | GO:0009414 | response to water deprivation |
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 water deprivation stimulus, prolonged deprivation of water. | IEA |
BP | GO:0009416 | response to light stimulus |
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 light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. | IEA |
BP | GO:0009635 | response to herbicide |
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 herbicide stimulus. Herbicides are chemicals used to kill or control the growth of plants. | IEA |
BP | GO:0009651 | response to salt 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 stimulus indicating an increase or decrease in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment. | IEA |
BP | GO:0009653 | anatomical structure morphogenesis |
The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. | TAS |
BP | GO:0009887 | animal organ morphogenesis |
Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. | ISS |
BP | GO:0010043 | response to zinc ion |
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 zinc ion stimulus. | IEA |
BP | GO:0010259 | multicellular organism aging |
An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700). | IEA |
BP | GO:0014823 | response to activity |
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 an activity stimulus. | IEA |
BP | GO:0015842 | aminergic neurotransmitter loading into synaptic vesicle |
The active transport of aminergic neurotransmitters into a synaptic vesicle. This import is fuelled by an electrochemical gradient across the vesicle membrane, established by the action proton pumps. | IEA |
BP | GO:0016137 | glycoside metabolic process |
The chemical reactions and pathways involving glycosides, compounds in which a glycosyl group is substituted into a hydroxyl, thiol or selenol group in another compound. | IEA |
BP | GO:0018963 | phthalate metabolic process |
The chemical reactions and pathways involving phthalate, the anion of phthalic acid. Phthalic acid diesters are used industrially in the production of a variety of household and consumer goods including plastic polymers, lubricating oils, and carriers for perfumes in cosmetics, while phthalic acid itself is used industrially as a plasticizer. Terephthalate is used in the synthesis of polyethylene terephthalate (polyethene terephthlate, abbreviated PET or PETE), a plastic polymer with many commercial uses. | IEA |
BP | GO:0021987 | cerebral cortex development |
The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon. | IEA |
BP | GO:0031667 | response to nutrient levels |
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 stimulus reflecting the presence, absence, or concentration of nutrients. | IEA |
BP | GO:0032355 | response to estradiol |
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 stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. | 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:0033076 | isoquinoline alkaloid metabolic process |
The chemical reactions and pathways involving isoquinoline alkaloids, alkaloid compounds that contain bicyclic N-containing aromatic rings and are derived from a 3,4-dihydroxytyramine (dopamine) precursor that undergoes a Schiff base addition with aldehydes of different origin. | IEA |
BP | GO:0035176 | social behavior |
Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group. | IEA |
BP | GO:0035690 | cellular response to drug |
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 drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. | IEA |
BP | GO:0035900 | response to isolation 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 lack of contact with other members of the same species. | IEA |
BP | GO:0035902 | response to immobilization 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 being rendered immobile. | IEA |
BP | GO:0042136 | neurotransmitter biosynthetic process |
The chemical reactions and pathways resulting in the formation of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. | IEA |
BP | GO:0042214 | terpene metabolic process |
The chemical reactions and pathways involving terpenes, any of a large group of hydrocarbons that are made up of isoprene (C5H8) units which may be cyclic, acyclic or multicyclic, saturated or unsaturated, and may contain various functional groups. | IEA |
BP | GO:0042416 | dopamine biosynthetic process |
The chemical reactions and pathways resulting in the formation of dopamine, a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. | IDA |
BP | GO:0042418 | epinephrine biosynthetic process |
The chemical reactions and pathways resulting in the formation of epinephrine, a hormone produced by the medulla of the adrenal glands that increases heart activity, improves the power and prolongs the action of muscles, and increases the rate and depth of breathing. It is synthesized by the methylation of norepinephrine. | IDA |
BP | GO:0042421 | norepinephrine biosynthetic process |
The chemical reactions and pathways resulting in the formation of norepinephrine, a hormone secreted by the adrenal medulla, and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts in the central nervous system. It is also the demethylated biosynthetic precursor of epinephrine. | IDA |
BP | GO:0042423 | catecholamine biosynthetic process |
The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. | TAS |
BP | GO:0042462 | eye photoreceptor cell development |
Development of a photoreceptor, a sensory cell in the eye that reacts to the presence of light. They usually contain a pigment that undergoes a chemical change when light is absorbed, thus stimulating a nerve. | ISS |
BP | GO:0042745 | circadian sleep/wake cycle |
The cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. | IEA |
BP | GO:0042755 | eating behavior |
The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue. | 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:0043473 | pigmentation |
The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. | TAS |
BP | GO:0045471 | response to ethanol |
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 an ethanol stimulus. | IDA |
BP | GO:0045472 | response to ether |
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 ether stimulus. | IEA |
BP | GO:0046684 | response to pyrethroid |
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 pyrethroid stimulus. Pyrethroids are a group of growth regulators, analogous to insect juvenile hormones, that interfere with the development of insect larvae and are used in the control of insects that are harmful in the adult stage. | IEA |
BP | GO:0048596 | embryonic camera-type eye morphogenesis |
The process in which the anatomical structures of the eye are generated and organized during embryonic development. | ISS |
BP | GO:0051412 | response to corticosterone |
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 corticosterone stimulus. Corticosterone is a 21 carbon steroid hormone of the corticosteroid type, produced in the cortex of the adrenal glands. In many species, corticosterone is the principal glucocorticoid, involved in regulation of fuel metabolism, immune reactions, and stress responses. | IEA |
BP | GO:0051602 | response to electrical stimulus |
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 an electrical stimulus. | IEA |
BP | GO:0052314 | phytoalexin metabolic process |
The chemical reactions and pathways involving phytoalexins, any of a range of substances produced by plants as part of their defense response. | IEA |
BP | GO:0055114 | oxidation-reduction process |
A metabolic process that results in the removal or addition of one or more electrons to or from a substance, with or without the concomitant removal or addition of a proton or protons. | IEA |
BP | GO:0071287 | cellular response to manganese ion |
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 manganese ion stimulus. | IEA |
BP | GO:0071316 | cellular response to nicotine |
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 nicotine stimulus. | IEA |
BP | GO:0071333 | cellular response to glucose 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 glucose stimulus. | IEA |
BP | GO:0071363 | cellular response to 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 growth factor stimulus. | IEA |
CC | GO:0005634 | nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. | ISS |
CC | GO:0005737 | cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. | 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. | 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: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:0008021 | synaptic vesicle |
A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. | IEA |
CC | GO:0009898 | cytoplasmic side of plasma membrane |
The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface. | IDA |
CC | GO:0030425 | dendrite |
A neuron projection that has a short, tapering, often branched, morphology, receives and integrates signals from other neurons or from sensory stimuli, and conducts a nerve impulse towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. | IEA |
CC | GO:0031410 | cytoplasmic vesicle |
A vesicle found in the cytoplasm of a cell. | IDA |
CC | GO:0033162 | melanosome membrane |
The lipid bilayer surrounding a melanosome. | IDA |
CC | GO:0043005 | neuron projection |
A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. | IDA |
CC | GO:0043195 | terminal bouton |
Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal bouton is a specialized region of it. | IEA |
CC | GO:0043204 | perikaryon |
The portion of the cell soma (cell body) that excludes the nucleus. | ISS |
MF | GO:0004511 | tyrosine 3-monooxygenase activity |
Catalysis of the reaction: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4-alpha-hydroxytetrahydrobiopterin + H2O. | IDA|TAS |
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:0008198 | ferrous iron binding |
Interacting selectively and non-covalently with ferrous iron, Fe(II). | IEA |
MF | GO:0008199 | ferric iron binding |
Interacting selectively and non-covalently with ferric iron, Fe(III). | IEA |
MF | GO:0016597 | amino acid binding |
Interacting selectively and non-covalently with an amino acid, organic acids containing one or more amino substituents. | IEA |
MF | GO:0019825 | oxygen binding |
Interacting selectively and non-covalently with oxygen (O2). | IEA |
MF | GO:0019899 | enzyme binding |
Interacting selectively and non-covalently with any enzyme. | IPI |
MF | GO:0019904 | protein domain specific binding |
Interacting selectively and non-covalently with a specific domain of a protein. | IEA |
MF | GO:0034617 | tetrahydrobiopterin binding |
Interacting selectively and non-covalently with a tetrahydrobiopterin, 5,6,7,8-tetrahydrobiopterin or a derivative thereof; tetrahydrobiopterins are enzyme cofactors that carry electrons in redox reactions. | IEA |
MF | GO:0035240 | dopamine binding |
Interacting selectively and non-covalently with dopamine, a catecholamine neurotransmitter formed by aromatic-L-amino-acid decarboxylase from 3,4-dihydroxy-L-phenylalanine. | IEA |
| Domain ID | Description |
|---|---|
IPR001273 | Aromatic amino acid hydroxylase |
IPR005962 | Tyrosine 3-monooxygenase |
IPR018301 | Aromatic amino acid hydroxylase, iron/copper binding site |
IPR019773 | Tyrosine 3-monooxygenase-like |
IPR019774 | Aromatic amino acid hydroxylase, C-terminal |
IPR021164 | Tyrosine hydroxylase, conserved site |
| Pathway ID | Pathway Term | Pathway Source |
|---|---|---|
hsa00350 | Tyrosine metabolism | KEGG |
hsa01100 | Metabolic pathways | KEGG |
hsa04728 | Dopaminergic synapse | KEGG |
hsa04917 | Prolactin signaling pathway | KEGG |
hsa05012 | Parkinson's disease | KEGG |
hsa05030 | Cocaine addiction | KEGG |
hsa05031 | Amphetamine addiction | KEGG |
hsa05034 | Alcoholism | KEGG |
WP1602 | Nicotine Activity on Dopaminergic Neurons | WikiPathways |
WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways | WikiPathways |
WP2371 | Parkinsons Disease Pathway | WikiPathways |
WP3925 | Amino Acid metabolism | WikiPathways |
WP2855 | Dopaminergic Neurogenesis | WikiPathways |
WP3594 | Circadian rythm related genes | WikiPathways |
WP2436 | Dopamine metabolism | WikiPathways |
WP550 | Biogenic Amine Synthesis | WikiPathways |
WP727 | Monoamine Transport | WikiPathways |
| UMLS CUI | UMLS Term |
|---|---|
C0006111 | Brain Diseases |
C0007370 | Catalepsy |
C0013386 | Dyskinesia, Drug-Induced |
C0013421 | Dystonia |
C0018799 | Heart Diseases |
C0023186 | Learning Disorders |
C0027746 | Nerve Degeneration |
C0027819 | Neuroblastoma |
C0031511 | Pheochromocytoma |
C0242422 | Parkinsonian Disorders |
C0424295 | Hyperactive Behavior |
C2239176 | Liver Carcinoma |
C3714756 | Intellectual Disability |
| Tissue | Cell Type |
|---|---|
adrenal gland | glandular cells |
adrenal gland | medullary cells |
| Database Name |
|---|
PhenomicDB |
OMIM |
DisGeNET |
| Gene Symbol | Entrez ID | Uniprot ID | Score |
|---|---|---|---|
CSNK2A1 | 1457 | P68400 | 0.52 |
YWHAB | 7529 | P31946 | 0.52 |
SNCA | 6622 | P37840 | 0.55 |
YWHAG | 7532 | P61981 | 0.72 |
MAPK1 | 5594 | P28482 | 0.77 |
TYSND1 | 219743 | Q2T9J0 | 0.52 |
RPS6KA5 | 9252 | O75582 | 0.55 |
CAMK2G | 818 | Q13555 | 0.62 |
YWHAQ | 10971 | P27348 | 0.63 |
MAPKAPK2 | 9261 | P49137 | 0.66 |
MAPK3 | 5595 | P27361 | 0.67 |
PRKACA | 5566 | P17612 | 0.68 |
HR | 55806 | O43593 | 0.72 |
YWHAZ | 7534 | P63104 | 0.86 |