Homo sapiens Gene: TH
Summary
InnateDB Gene IDBG-21705.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TH
Gene Name tyrosine hydroxylase
Synonyms DYT14; DYT5b; TYH;
Species Homo sapiens
Ensembl Gene ENSG00000180176
Encoded Proteins
tyrosine hydroxylase
tyrosine hydroxylase
tyrosine hydroxylase
tyrosine hydroxylase
tyrosine hydroxylase
tyrosine hydroxylase
tyrosine hydroxylase
tyrosine hydroxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:2163929-2171877
Strand Reverse strand
Band p15.5
Transcripts
ENST00000381178 ENSP00000370571
ENST00000381175 ENSP00000370567
ENST00000352909 ENSP00000325951
ENST00000333684 ENSP00000328814
ENST00000324155 ENSP00000325831
ENST00000381168 ENSP00000370560
ENST00000412076 ENSP00000403546
ENST00000416223 ENSP00000403440
ENST00000479437
ENST00000461172
ENST00000469226
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004497 monooxygenase activity
GO:0004511 tyrosine 3-monooxygenase activity
GO:0005515 protein binding
GO:0008198 ferrous iron binding
GO:0008199 ferric iron binding
GO:0016597 amino acid binding
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
GO:0019825 oxygen binding
GO:0019904 protein domain specific binding
GO:0034617 tetrahydrobiopterin binding
GO:0035240 dopamine binding
Biological Process
GO:0001666 response to hypoxia
GO:0001963 synaptic transmission, dopaminergic
GO:0001975 response to amphetamine
GO:0003007 heart morphogenesis
GO:0006585 dopamine biosynthetic process from tyrosine
GO:0006631 fatty acid metabolic process
GO:0006665 sphingolipid metabolic process
GO:0007507 heart development
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0007612 learning
GO:0007613 memory
GO:0007617 mating behavior
GO:0007626 locomotory behavior
GO:0008016 regulation of heart contraction
GO:0009414 response to water deprivation
GO:0009416 response to light stimulus
GO:0009635 response to herbicide
GO:0009651 response to salt stress
GO:0009653 anatomical structure morphogenesis
GO:0009887 organ morphogenesis
GO:0010038 response to metal ion
GO:0010043 response to zinc ion
GO:0010259 multicellular organismal aging
GO:0014070 response to organic cyclic compound
GO:0014823 response to activity
GO:0015842 synaptic vesicle amine transport
GO:0016137 glycoside metabolic process
GO:0017085 response to insecticide
GO:0018963 phthalate metabolic process
GO:0021987 cerebral cortex development
GO:0031667 response to nutrient levels
GO:0032355 response to estradiol
GO:0032496 response to lipopolysaccharide
GO:0033076 isoquinoline alkaloid metabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0035094 response to nicotine
GO:0035176 social behavior
GO:0035690 cellular response to drug
GO:0035902 response to immobilization stress
GO:0042136 neurotransmitter biosynthetic process
GO:0042214 terpene metabolic process
GO:0042416 dopamine biosynthetic process
GO:0042418 epinephrine biosynthetic process
GO:0042421 norepinephrine biosynthetic process
GO:0042423 catecholamine biosynthetic process
GO:0042462 eye photoreceptor cell development
GO:0042493 response to drug
GO:0042745 circadian sleep/wake cycle
GO:0042755 eating behavior
GO:0043434 response to peptide hormone
GO:0043473 pigmentation
GO:0044281 small molecule metabolic process
GO:0045471 response to ethanol
GO:0045472 response to ether
GO:0046684 response to pyrethroid
GO:0048545 response to steroid hormone
GO:0048596 embryonic camera-type eye morphogenesis
GO:0050890 cognition
GO:0051412 response to corticosterone
GO:0051602 response to electrical stimulus
GO:0052314 phytoalexin metabolic process
GO:0055114 oxidation-reduction process
GO:0070848 response to growth factor
GO:0071287 cellular response to manganese ion
GO:0071312 cellular response to alkaloid
GO:0071316 cellular response to nicotine
GO:0071333 cellular response to glucose stimulus
GO:0071363 cellular response to growth factor stimulus
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005790 smooth endoplasmic reticulum
GO:0005829 cytosol
GO:0008021 synaptic vesicle
GO:0009898 cytoplasmic side of plasma membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0033162 melanosome membrane
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0043195 terminal bouton
GO:0043204 perikaryon
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Amine-derived hormones pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
Catecholamine biosynthesis pathway
KEGG
Tyrosine metabolism pathway
Parkinson's disease pathway
INOH
Tyrosine metabolism pathway
PID BIOCARTA
PID NCI
Alpha-synuclein signaling
ATF-2 transcription factor network
AP-1 transcription factor network
p38 signaling mediated by MAPKAP kinases
Cross-References
SwissProt P07101
TrEMBL E7EQI0 F8W8M5 O43816 P78428 Q15587 Q16846 Q6XS77 Q7KZ36 Q7KZ38 Q7KZ39 Q7KZ44 Q8IZE1 Q9NP14 Q9UQ57
UniProt Splice Variant
Entrez Gene 7054
UniGene Hs.435609
RefSeq NM_000360 NM_199292 NM_199293
HUGO HGNC:11782
OMIM 191290
CCDS CCDS31338 CCDS7730 CCDS7731
HPRD
IMGT
EMBL AC132217 AH003205 AY144495 AY211521 BC104967 BC143611 BC143614 CH471158 D00269 DQ677336 DQ677337 M17589 M20911 M20912 M23597 M24787 M24788 M24789 M24790 M24791 X05290 Y00414
GenPept AAA61167 AAA61168 AAA61170 AAA61171 AAA61172 AAA61173 AAA61174 AAA61179 AAA77649 AAA77650 AAA77651 AAI04968 AAI43612 AAI43615 AAN39539 AAP43671 ABG73364 ABG73365 BAA25094 BAA25095 BAA25096 BAA25097 CAA28908 CAA68472 EAX02493
RNA Seq Atlas 7054