InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TH

Summary

InnateDB Protein

IDBP-21713.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Protein Name

tyrosine hydroxylase

Synonyms

DYT14; DYT5b; TYH;

Species

Homo sapiens

Ensembl Protein

ENSP00000325951

InnateDB Gene

IDBG-21705 (TH)

Protein Structure

UniProt Annotation

Function

Plays an important role in the physiology of adrenergic neurons.

Subcellular Localization

Disease Associations

Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]: A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA. {ECO:0000269PubMed:11246459, ECO:0000269PubMed:7814018, ECO:0000269PubMed:9613851, ECO:0000269PubMed:9703425}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=May play a role in the pathogenesis of Parkinson disease (PD). A genome-wide copy number variation analysis has identified a 34 kilobase deletion over the TH gene in a PD patient but not in any controls. {ECO:0000269PubMed:20809526}.

Tissue Specificity

Mainly expressed in the brain and adrenal glands.

Comments

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:0004511	tyrosine 3-monooxygenase activity
GO:0005515	protein 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

Biological Process

GO:0001666	response to hypoxia
GO:0001963	synaptic transmission, dopaminergic
GO:0003007	heart morphogenesis
GO:0006585	dopamine biosynthetic process from tyrosine
GO:0007507	heart development
GO:0007601	visual perception
GO:0007612	learning
GO:0007613	memory
GO:0007626	locomotory behavior
GO:0008016	regulation of heart contraction
GO:0009653	anatomical structure morphogenesis
GO:0009887	organ morphogenesis
GO:0034641	cellular nitrogen compound metabolic process
GO:0042136	neurotransmitter biosynthetic 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:0043473	pigmentation
GO:0044281	small molecule metabolic process
GO:0045471	response to ethanol
GO:0048596	embryonic camera-type eye morphogenesis
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005790	smooth endoplasmic reticulum
GO:0005829	cytosol
GO:0009898	cytoplasmic side of plasma membrane
GO:0031410	cytoplasmic vesicle
GO:0033162	melanosome membrane
GO:0043005	neuron projection
GO:0043204	perikaryon

Protein Structure and Domains

PDB ID

InterPro

IPR005962 Tyrosine 3-monooxygenase
IPR019773 Tyrosine 3-monooxygenase-like
IPR019774 Aromatic amino acid hydroxylase, C-terminal
IPR021164 Tyrosine hydroxylase, conserved site

PFAM

PF00351
PF12549

PRINTS

PR00372

PIRSF

PIRSF000336

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt