TH
TH Gene Summary
The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TH |
| Official Name | tyrosine hydroxylase [Source:HGNC Symbol;Acc:HGNC:11782] |
| Ensembl ID | ENSG00000180176 |
| Bio databases IDs | |
| Aliases | tyrosine hydroxylase, tyrosine 3-monooxygenase |
| Synonyms | DYT14,DYT5b,The,TYH,TYROSINE 3-MONOOXYGENASE,tyrosine hydroxylase |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ferrous iron binding
- ferric iron binding
- oxygen binding
- tyrosine 3-monooxygenase, tetrameric
- enzyme binding
- protein domain specific binding
- enzyme
- protein binding
- identical protein binding
- ACT domain
- phosphorylation site
- amino acid binding
- Biopterin-dependent aromatic amino acid hydroxylase
- arom_aa_hydroxylase
- tryptophan 5-monooxygenase, tetrameric
- Tyrosine hydroxylase N terminal
- binding protein
- reduced pteridine oxygen oxidoreductase
- tyrosine 3-monooxygenase
- phenylalanine-4-hydroxylase, tetrameric form
- monooxygenase
Pathways
Biological processes and signaling networks where the TH gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- MAPK3
- MAPK1
- YWHAQ
- PUF60
- DAAM2
- APP
- FOSB
- JUND
- CREM
- NR4A2
disease
- obesity
- autosomal recessive Segawa syndrome
- orthostatic hypotension
- phenylketonuria
- disorder of autonomic nervous system
- breast cancer
- tetrahydrobiopterin deficiency
- portal hypertension
- anoxia
- abdominal aortic aneurysm
regulated by
- APP
- PSEN1
- docosahexaenoic acid
- VHL
- cocaine
- glucocorticoid
- cortodoxone
- K+
- Huh-7.5 cells
- beta-estradiol
regulates
- SNCA
- dopamine
- levodopa
- NPY
- epinephrine
- norepinephrine
- SDHA
- OCIAD2
- oxygen
- ALB
role in cell
- quantity
- size
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytoplasmic vesicle membrane
- somatodendritic region
- perinuclear region
- Nucleus
- Golgi Apparatus
- Mitochondria
- cytosol
- cytoplasmic face of plasma membrane
- synaptic vesicles
- neurites
- nerve ending
- intervaricose axon segments
- cytoplasmic vesicles
- melanosomes
- smooth endoplasmatic reticulum
- membrane processes
- perikaryon
- axons
- dendrites
- axon terminals
- axon branches
- plasma
- sympathetic axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the TH gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- dopamine biosynthetic process
- epinephrine biosynthetic process
- learning
- memory
- terpene metabolic process
- response to herbicide
- heart morphogenesis
- response to hypoxia
- cellular response to glucose stimulus
- pigmentation
- response to electrical stimulus
- glycoside metabolic process
- circadian sleep/wake cycle
- eye photoreceptor cell development
- cerebral cortex development
- norepinephrine biosynthetic process
- response to peptide hormone stimulus
- organ morphogenesis
- response to corticosterone stimulus
- mating behavior
- cellular response to growth factor stimulus
- cellular response to manganese ion
- response to estradiol stimulus
- response to isolation stress
- response to activity
- response to immobilization stress
- response to nutrient levels
- response to zinc ion
- response to salt stress
- dopamine biosynthetic process from tyrosine
- anatomical structure morphogenesis
- response to light stimulus
- sphingolipid metabolic process
- eating behavior
- heart development
- response to ethanol
- phytoalexin metabolic process
- locomotory behavior
- synaptic transmission, dopaminergic
- response to pyrethroid
- response to ether
- cellular response to alkaloid
- cellular response to nicotine
- synaptic vesicle amine transport
- social behavior
- isoquinoline alkaloid metabolic process
- regulation of heart contraction
- visual perception
- fatty acid metabolic process
- response to amphetamine
- embryonic camera-type eye morphogenesis
- response to lipopolysaccharide
- cellular response to xenobiotic stimulus
- phthalate metabolic process
CELLULAR COMPONENT
Where in the cell the gene product is active
- melanosome membrane
- smooth endoplasmic reticulum
- synaptic vesicle
- perikaryon
- neuron projection
- internal side of plasma membrane
- dendrite
- nucleus
- perinuclear region of cytoplasm
- terminal button
- cytoplasm
- mitochondrion
- cytosol
- cytoplasmic vesicle
- axon
MOLECULAR FUNCTION
What the gene product does at the molecular level
- oxygen binding
- tetrahydrobiopterin binding
- protein domain specific binding
- protein binding
- ferric iron binding
- ferrous iron binding
- dopamine binding
- amino acid binding
- tyrosine 3-monooxygenase activity
- enzyme binding