• Gene id: 7054

Gene Summary

• Gene Symbol: TH   Gene   UCSC   Ensembl
• Aliases: DYT14, DYT5b, TYH
• Gene name: tyrosine hydroxylase
• Alternate names: tyrosine 3-monooxygenase, dystonia 14, tyrosine 3-hydroxylase,
• Gene location: 11p15.5 (2174080: 2163928)     Exons: 14     NC_000011.10
• Gene summary(Entrez): 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 ass
• OMIM: 180663

Protein Summary

• Protein general information: P07101  
  • Name: Tyrosine 3 monooxygenase (EC 1.14.16.2) (Tyrosine 3 hydroxylase) (TH)
  • Length: 528  
  • Mass: 58600
  • Tissue specificity: Mainly expressed in the brain and adrenal glands.
• Sequence:

  MPTPDATTPQAKGFRRAVSELDAKQAEAIMVRGQGAPGPSLTGSPWPGTAAPAASYTPTPRSPRFIGRRQSLIED
  ARKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPRATKPSALSRAVKVFETFEAKIHHLETRPAQ
  RPRAGGPHLEYFVRLEVRRGDLAALLSGVRQVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGF
  SDQVYRQRRKLIAEIAFQYRHGDPIPRVEYTAEEIATWKEVYTTLKGLYATHACGEHLEAFALLERFSGYREDNI
  PQLEDVSRFLKERTGFQLRPVAGLLSARDFLASLAFRVFQCTQYIRHASSPMHSPEPDCCHELLGHVPMLADRTF
  AQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYGAGLLSSYGELLHCLSEEPEIRAFDPEAAAV
  QPYQDQTYQSVYFVSESFSDAKDKLRSYASRIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALS
  AIG

• Structural information:
  • Interpro: IPR001273  IPR018301  IPR036951  IPR036329  IPR019774   IPR041903  IPR005962  IPR019773  IPR021164  
  • Prosite: PS00367 PS51410
  • CDD: cd03345
  • PDB: 2XSN 4J6S
  • PDBsum: 2XSN 4J6S
  • STRING: ENSP00000370571
• Other Databases: GeneCards:  TH  Malacards:  TH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004511	tyrosine 3-monooxygenase activity	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004511	tyrosine 3-monooxygenase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0007507	heart development	IBA	biological process
GO:0043204	perikaryon	IBA	cellular component
GO:0001666	response to hypoxia	IBA	biological process
GO:0006585	dopamine biosynthetic process from tyrosine	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0045471	response to ethanol	IBA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0016714	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen	IEA	molecular function
GO:0042423	catecholamine biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004511	tyrosine 3-monooxygenase activity	IEA	molecular function
GO:0009072	aromatic amino acid family metabolic process	IEA	biological process
GO:0042136	neurotransmitter biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0042423	catecholamine biosynthetic process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0004511	tyrosine 3-monooxygenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0042423	catecholamine biosynthetic process	TAS	biological process
GO:0004511	tyrosine 3-monooxygenase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0008198	ferrous iron binding	IEA	molecular function
GO:0009416	response to light stimulus	IEA	biological process
GO:0010038	response to metal ion	IEA	biological process
GO:0010259	multicellular organism aging	IEA	biological process
GO:0015842	aminergic neurotransmitter loading into synaptic vesicle	IEA	biological process
GO:0016137	glycoside metabolic process	IEA	biological process
GO:0018963	phthalate metabolic process	IEA	biological process
GO:0019825	oxygen binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0021987	cerebral cortex development	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0034617	tetrahydrobiopterin binding	IEA	molecular function
GO:0035094	response to nicotine	IEA	biological process
GO:0035240	dopamine binding	IEA	molecular function
GO:0035900	response to isolation stress	IEA	biological process
GO:0035902	response to immobilization stress	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0043434	response to peptide hormone	IEA	biological process
GO:0050890	cognition	IEA	biological process
GO:0051412	response to corticosterone	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0052314	phytoalexin metabolic process	IEA	biological process
GO:0070848	response to growth factor	IEA	biological process
GO:0071287	cellular response to manganese ion	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001975	response to amphetamine	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0006585	dopamine biosynthetic process from tyrosine	IEA	biological process
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0008199	ferric iron binding	IEA	molecular function
GO:0009414	response to water deprivation	IEA	biological process
GO:0009635	response to herbicide	IEA	biological process
GO:0009651	response to salt stress	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0016597	amino acid binding	IEA	molecular function
GO:0017085	response to insecticide	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0032355	response to estradiol	IEA	biological process
GO:0033076	isoquinoline alkaloid metabolic process	IEA	biological process
GO:0035176	social behavior	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0042214	terpene metabolic process	IEA	biological process
GO:0042423	catecholamine biosynthetic process	IEA	biological process
GO:0042745	circadian sleep/wake cycle	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0043195	terminal bouton	IEA	cellular component
GO:0045471	response to ethanol	IEA	biological process
GO:0045472	response to ether	IEA	biological process
GO:0046684	response to pyrethroid	IEA	biological process
GO:0048545	response to steroid hormone	IEA	biological process
GO:0071312	cellular response to alkaloid	IEA	biological process
GO:0071316	cellular response to nicotine	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0071363	cellular response to growth factor stimulus	IEA	biological process
GO:0048596	embryonic camera-type eye morphogenesis	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0042462	eye photoreceptor cell development	IEA	biological process
GO:0007612	learning	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0042755	eating behavior	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0007617	mating behavior	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0006585	dopamine biosynthetic process from tyrosine	IEA	biological process
GO:0001963	synaptic transmission, dopaminergic	IEA	biological process
GO:0004511	tyrosine 3-monooxygenase activity	IDA	molecular function
GO:0004511	tyrosine 3-monooxygenase activity	IDA	molecular function
GO:0004511	tyrosine 3-monooxygenase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001666	response to hypoxia	IDA	biological process
GO:0005790	smooth endoplasmic reticulum	IDA	cellular component
GO:0009898	cytoplasmic side of plasma membrane	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0042418	epinephrine biosynthetic process	IDA	biological process
GO:0043005	neuron projection	IDA	cellular component
GO:0045471	response to ethanol	IDA	biological process
GO:0001963	synaptic transmission, dopaminergic	ISS	biological process
GO:0006585	dopamine biosynthetic process from tyrosine	NAS	biological process
GO:0007601	visual perception	ISS	biological process
GO:0007613	memory	ISS	biological process
GO:0007626	locomotory behavior	ISS	biological process
GO:0008016	regulation of heart contraction	ISS	biological process
GO:0009887	animal organ morphogenesis	ISS	biological process
GO:0033162	melanosome membrane	IDA	cellular component
GO:0042416	dopamine biosynthetic process	IDA	biological process
GO:0042421	norepinephrine biosynthetic process	IDA	biological process
GO:0003007	heart morphogenesis	NAS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0007507	heart development	ISS	biological process
GO:0007612	learning	ISS	biological process
GO:0042462	eye photoreceptor cell development	ISS	biological process
GO:0043204	perikaryon	ISS	cellular component
GO:0043473	pigmentation	TAS	biological process
GO:0048596	embryonic camera-type eye morphogenesis	ISS	biological process
GO:0042416	dopamine biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0004511	tyrosine 3-monooxygenase activity	IDA	molecular function
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:1990384	hyaloid vascular plexus regression	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05012	Parkinson disease
hsa05034	Alcoholism
hsa04728	Dopaminergic synapse
hsa05031	Amphetamine addiction
hsa04917	Prolactin signaling pathway
hsa05030	Cocaine addiction
hsa00350	Tyrosine metabolism
hsa00790	Folate biosynthesis

Diseases

Associated diseases	References
Primary dystonia	KEGG:H00831
Primary dystonia	KEGG:H00831
Hypertension	PMID:16636198
Parkinson's disease	PMID:15857400
Parkinson's disease	PMID:9853519
obesity	PMID:16251897
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq