TH (tyrosine hydroxylase)

2007-12-01  

Identity

HGNC
TH
LOCATION
11p15.5
LOCUSID
7054
ALIAS
DYT14,DYT5b,TYH

Other Information

Locus ID:

NCBI: 7054
MIM: 191290
HGNC: 11782
Ensembl: ENSG00000180176

Variants:

dbSNP: 7054
ClinVar: 7054
TCGA: ENSG00000180176
COSMIC: TH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180176ENST00000324155F8W8M5
ENSG00000180176ENST00000333684P07101
ENSG00000180176ENST00000352909P07101
ENSG00000180176ENST00000381168E7EQI0
ENSG00000180176ENST00000381175P07101
ENSG00000180176ENST00000381178P07101
ENSG00000180176ENST00000412076H0Y677
ENSG00000180176ENST00000416223H0Y670

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Tyrosine metabolismKEGGko00350
Tyrosine metabolismKEGGhsa00350
Parkinson's diseaseKEGGhsa05012
Metabolic pathwaysKEGGhsa01100
Catecholamine biosynthesis, tyrosine => dopamine => noradrenaline => adrenalineKEGGhsa_M00042
Catecholamine biosynthesis, tyrosine => dopamine => noradrenaline => adrenalineKEGGM00042
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Cocaine addictionKEGGhsa05030
Cocaine addictionKEGGko05030
Amphetamine addictionKEGGhsa05031
Amphetamine addictionKEGGko05031
AlcoholismKEGGhsa05034
AlcoholismKEGGko05034
Prolactin signaling pathwayKEGGhsa04917
Prolactin signaling pathwayKEGGko04917
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amine-derived hormonesREACTOMER-HSA-209776
Catecholamine biosynthesisREACTOMER-HSA-209905

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445043Opioid-Related DisordersDiseaseClinicalAnnotationassociatedPD29210332, 32232669
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD26810137
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD26810137
PA450487metyrosineChemicalPathwayassociated
PA452618opioidsChemicalClinicalAnnotationassociatedPD29210332, 32232669

References

Pubmed IDYearTitleCitations
376244842024Association of tyrosine hydroxylase 01 (TH01) microsatellite and insulin gene (INS) variable number of tandem repeat (VNTR) with type 2 diabetes and fasting insulin secretion in Mexican population.1
380846542024Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.0
376244842024Association of tyrosine hydroxylase 01 (TH01) microsatellite and insulin gene (INS) variable number of tandem repeat (VNTR) with type 2 diabetes and fasting insulin secretion in Mexican population.1
380846542024Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.0
370119802023[Clinical and genetic characteristics of children with dopa-responsive dystonia caused by tyrosine hydroxylase gene variations].0
378401872023[Clinical and genetic analysis of tyrosine hydroxylase deficiency of six cases].0
370119802023[Clinical and genetic characteristics of children with dopa-responsive dystonia caused by tyrosine hydroxylase gene variations].0
378401872023[Clinical and genetic analysis of tyrosine hydroxylase deficiency of six cases].0
349222052022Tyrosine hydroxylase activity is regulated through the modification of the 176th cysteine residue.1
350131932022Structural mechanism for tyrosine hydroxylase inhibition by dopamine and reactivation by Ser40 phosphorylation.13
352588012022Expression Quantitative Trait Locus rs6356 Is Associated with Susceptibility to Heroin Addiction by Potentially Influencing TH Gene Expression in the Hippocampus and Nucleus Accumbens.1
361155032022Aging accentuates decrease in tyrosine hydroxylase immunoreactivity associated with the increase in the motor impairment in a model of reserpine-induced parkinsonism.1
349222052022Tyrosine hydroxylase activity is regulated through the modification of the 176th cysteine residue.1
350131932022Structural mechanism for tyrosine hydroxylase inhibition by dopamine and reactivation by Ser40 phosphorylation.13
352588012022Expression Quantitative Trait Locus rs6356 Is Associated with Susceptibility to Heroin Addiction by Potentially Influencing TH Gene Expression in the Hippocampus and Nucleus Accumbens.1

Citation

Dessen P

TH (tyrosine hydroxylase)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49894