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Aliases for TH Gene

Aliases for TH Gene

  • Tyrosine Hydroxylase 2 3 5
  • Tyrosine 3-Monooxygenase 2 3
  • Tyrosine 3-Hydroxylase 3 4
  • EC 1.14.16.2 4 61
  • TYH 3 4
  • Dystonia 14 3
  • EC 1.14.16 61
  • DYT14 3
  • DYT5b 3

External Ids for TH Gene

Previous GeneCards Identifiers for TH Gene

  • GC11U990132
  • GC11M002273
  • GC11M002144
  • GC11M002149
  • GC11M002141
  • GC11M002185
  • GC11M001982

Summaries for TH Gene

Entrez Gene Summary for TH Gene

  • 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]

GeneCards Summary for TH Gene

TH (Tyrosine Hydroxylase) is a Protein Coding gene. Diseases associated with TH include Segawa Syndrome, Recessive and Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia. Among its related pathways are Metabolism and Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction). GO annotations related to this gene include enzyme binding and oxygen binding. An important paralog of this gene is PAH.

UniProtKB/Swiss-Prot for TH Gene

  • Plays an important role in the physiology of adrenergic neurons.

Gene Wiki entry for TH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TH Gene

Genomics for TH Gene

Regulatory Elements for TH Gene

Enhancers for TH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F002177 0.3 FANTOM5 18.9 -5.2 -5227 0.1 KLF1 TH IGF2 IGF2-AS MIR483 ASCL2 MIR4686 GC11M002206
GH11F002175 0.9 FANTOM5 ENCODE 17.2 -3.7 -3685 0.3 CTCF BCOR ZNF202 HDGF SMARCA5 TSC22D4 ZNF407 ZNF48 POLR2A MBD1 TH IGF2 IGF2-AS MIR483 ASCL2 KRTAP5-6 MIR4686 GC11M002206
GH11F002178 1.3 FANTOM5 Ensembl ENCODE 16 -6.7 -6704 1.4 ZFHX2 PKNOX1 MNT FOS TCF7L2 EGR2 IGF2 TH IGF2-AS MIR483 ENSG00000236710 ASCL2 SYT8 MIR4686 GC11M002206
GH11F001960 1.5 FANTOM5 ENCODE 13.1 +210.6 210560 1.2 TH IGF2 GC11P001949 GC11P001973
GH11F002026 0.5 ENCODE 11.6 +142.5 142527 6.4 SCRT2 ZNF16 ENSG00000240801 MIR483 TH IGF2-AS IGF2 INS INS-IGF2 KRTAP5-5 GC11M002042 GC11P002011
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TH on UCSC Golden Path with GeneCards custom track

Genomic Location for TH Gene

Chromosome:
11
Start:
2,163,929 bp from pter
End:
2,172,137 bp from pter
Size:
8,209 bases
Orientation:
Minus strand

Genomic View for TH Gene

Genes around TH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TH Gene

Proteins for TH Gene

  • Protein details for TH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07101-TY3H_HUMAN
    Recommended name:
    Tyrosine 3-monooxygenase
    Protein Accession:
    P07101
    Secondary Accessions:
    • B7ZL70
    • B7ZL73
    • Q0PWM2
    • Q0PWM3
    • Q15585
    • Q15588
    • Q15589
    • Q2M3B4

    Protein attributes for TH Gene

    Size:
    528 amino acids
    Molecular mass:
    58600 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA61173.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TH Gene

    Alternative splice isoforms for TH Gene

neXtProt entry for TH Gene

Selected DME Specific Peptides for TH Gene

P07101:
  • EFGLCKQ
  • AKGFRRAVSELD
  • GLLSARDFL
  • GAGLLSS
  • CHHLVTKFDPDLD
  • YWFTVEFGLC
  • HELLGHVPMLADRTFAQFSQ
  • HELLGHVP
  • PQLEDVS
  • RPVAGLLS
  • IEKLSTLYWFTVEFGLCKQ
  • IGLASLG
  • KVFETFEA
  • AVQPYQDQ
  • FLKERTGF
  • YASRIQRPFSVKFDPYTLAIDVLDSP
  • SLGASDE
  • YFVSESF
  • DARKERE

Post-translational modifications for TH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for TH (Tyrosine Hydroxylase)

Domains & Families for TH Gene

Gene Families for TH Gene

Graphical View of Domain Structure for InterPro Entry

P07101

UniProtKB/Swiss-Prot:

TY3H_HUMAN :
  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
Family:
  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
genes like me logo Genes that share domains with TH: view

Function for TH Gene

Molecular function for TH Gene

GENATLAS Biochemistry:
tyrosine 3-hydroxylase,58.5kDa,mainly expressed in brain and adrenal glands,rate limiting enzyme in the biosynthesis of catecholamines,potentially associated with longevity in the male,unlikely to be associated with bipolar effective disorder (MAFD)
UniProtKB/Swiss-Prot CatalyticActivity:
L-tyrosine + tetrahydrobiopterin + O(2) = L-dopa + 4a-hydroxytetrahydrobiopterin.
UniProtKB/Swiss-Prot EnzymeRegulation:
Phosphorylation leads to an increase in the catalytic activity.
UniProtKB/Swiss-Prot Function:
Plays an important role in the physiology of adrenergic neurons.

Enzyme Numbers (IUBMB) for TH Gene

Gene Ontology (GO) - Molecular Function for TH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0004511 tyrosine 3-monooxygenase activity IEA,TAS --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 11943812
GO:0008198 ferrous iron binding IEA --
genes like me logo Genes that share ontologies with TH: view
genes like me logo Genes that share phenotypes with TH: view

Human Phenotype Ontology for TH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TH Gene

MGI Knock Outs for TH:
  • Th tm1Tna
  • Th tm1Gfng
  • Th tm5Rpa
  • Th tm1Srt
  • Th tm2Rpa
  • Th tm1Rpa

Animal Model Products

miRNA for TH Gene

miRTarBase miRNAs that target TH

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for TH Gene

Localization for TH Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TH Gene COMPARTMENTS Subcellular localization image for TH gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
nucleus 5
plasma membrane 5
mitochondrion 4
cytoskeleton 3
extracellular 2
golgi apparatus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IDA 10907721
GO:0005739 mitochondrion IEA --
GO:0005790 smooth endoplasmic reticulum IDA 12457228
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TH: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TH Gene

Pathways & Interactions for TH Gene

genes like me logo Genes that share pathways with TH: view

UniProtKB/Swiss-Prot P07101-TY3H_HUMAN

  • Pathway: Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 1/2.

SIGNOR curated interactions for TH Gene

Gene Ontology (GO) - Biological Process for TH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 17520326
GO:0001963 synaptic transmission, dopaminergic ISS --
GO:0001975 response to amphetamine IEA --
GO:0003007 heart morphogenesis NAS 12113410
GO:0006585 dopamine biosynthetic process from tyrosine NAS 10907721
genes like me logo Genes that share ontologies with TH: view

Drugs & Compounds for TH Gene

(88) Drugs for TH Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metyrosine Approved Pharma binder, Target 0
Sapropterin Approved, Investigational Pharma Target, cofactor 0
L-Phenylalanine Approved Nutra Target, binder 0
L-Tyrosine Approved Nutra Target, binder 0
Levodopa Approved Pharma Agonist 388

(57) Additional Compounds for TH Gene - From: Novoseek, HMDB, and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
alpha-propyldopacetamide
Inhibition, Inhibitor
4a-Carbinolamine tetrahydrobiopterin
  • 1,3,5-Benzenetriol
  • 1,3,5-Trihydroxybenzene
  • 1,3,5-Trihydroxybenzene anhydrate
  • 1,3,5-Trihydroxybenzene anhydrous
  • 1,3,5-Trihydroxybenzene dihydrate
79647-29-3
4a-hydroxytetrahydrobiopterin
  • (6R)-6-(L-erythro-1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterin
  • 2-Amino-6-(1,2-dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4aH)-one
  • 2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxy-4(4aH)-Pteridinone
  • 2-Amino-6-[(1R,2S)-1,2-dihydroxypropyl]-4a-hydroxy-1,5,6,7-tetrahydropteridin-4-one
  • 4a-Hydroxy-5,6,7,8-tetrahydrobiopterin
70110-58-6
DL-Dopa
  • (+/-) 3-(3,4-Dihydroxyphenyl)alanine
  • 2-Amino-3-(3,4-dihydroxyphenyl)propanoate
  • 2-Amino-3-(3,4-dihydroxyphenyl)propanoic acid
  • 3,4-Dihydroxy-DL-phenylalanine
  • 3,4-Dihydroxyphenylalanine
63-84-3
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with TH: view

Transcripts for TH Gene

mRNA/cDNA for TH Gene

(4) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TH Gene

Tyrosine hydroxylase:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TH Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2: -
SP3: - - -
SP4: - - - -
SP5: -
SP6: - -
SP7:

Relevant External Links for TH Gene

GeneLoc Exon Structure for
TH
ECgene alternative splicing isoforms for
TH

Expression for TH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TH Gene

This gene is overexpressed in Brain - Substantia nigra (x17.9), Brain - Hypothalamus (x15.9), and Adrenal Gland (x13.7).

Protein differential expression in normal tissues from HIPED for TH Gene

This gene is overexpressed in Adrenal (54.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TH Gene



NURSA nuclear receptor signaling pathways regulating expression of TH Gene:

TH

SOURCE GeneReport for Unigene cluster for TH Gene:

Hs.435609

mRNA Expression by UniProt/SwissProt for TH Gene:

P07101-TY3H_HUMAN
Tissue specificity: Mainly expressed in the brain and adrenal glands.
genes like me logo Genes that share expression patterns with TH: view

Primer Products

No data available for Protein tissue co-expression partners for TH Gene

Orthologs for TH Gene

This gene was present in the common ancestor of animals.

Orthologs for TH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TH 34 35
  • 98.6 (n)
dog
(Canis familiaris)
Mammalia TH 34 35
  • 87.27 (n)
cow
(Bos Taurus)
Mammalia TH 34 35
  • 84.79 (n)
rat
(Rattus norvegicus)
Mammalia Th 34
  • 84.04 (n)
mouse
(Mus musculus)
Mammalia Th 34 16 35
  • 82.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TH 35
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TH 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves TH 34 35
  • 74.81 (n)
lizard
(Anolis carolinensis)
Reptilia TH 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488900 34
  • 68.37 (n)
zebrafish
(Danio rerio)
Actinopterygii th 34 35
  • 67.14 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006023 34
  • 63.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta ple 36 34 35
  • 62.92 (n)
worm
(Caenorhabditis elegans)
Secernentea cat-2 36 34 35
  • 54.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1716 35
  • 46 (a)
OneToOne
Species where no ortholog for TH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TH Gene

ENSEMBL:
Gene Tree for TH (if available)
TreeFam:
Gene Tree for TH (if available)

Paralogs for TH Gene

Paralogs for TH Gene

genes like me logo Genes that share paralogs with TH: view

Variants for TH Gene

Sequence variations from dbSNP and Humsavar for TH Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121917762 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407], Pathogenic 2,165,727(-) GTAAG(A/C)AGAAC reference, missense
rs121917763 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407], Pathogenic 2,167,896(-) GAAGC(C/T)GATTG reference, missense
rs121917764 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407], Pathogenic 2,166,762(-) GCGCA(C/T)GGGCT reference, missense
rs121917765 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407], Pathogenic 2,166,544(-) GGACT(G/T)CTGCC reference, missense
rs199961079 Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] 2,166,934(+) CTTCC(C/T)GGTAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TH Gene

Variant ID Type Subtype PubMed ID
nsv467645 CNV gain 19166990
nsv469927 CNV loss 18288195
nsv553047 CNV gain 21841781
nsv553068 CNV loss 21841781
nsv553070 CNV loss 21841781
nsv553079 CNV loss 21841781
nsv951284 CNV deletion 24416366

Variation tolerance for TH Gene

Residual Variation Intolerance Score: 64.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.29; 90.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TH Gene

Human Gene Mutation Database (HGMD)
TH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TH Gene

Disorders for TH Gene

MalaCards: The human disease database

(44) MalaCards diseases for TH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
segawa syndrome, recessive
  • segawa syndrome, autosomal recessive
tyrosine hydroxylase-deficient dopa-responsive dystonia
  • segawa syndrome, autosomal recessive
synucleinopathy
  • alpha synucleinopathies
perry syndrome
  • parkinsonism with alveolar hypoventilation and mental depression
placental insufficiency
  • uteroplacental vascular insufficiency
- elite association - COSMIC cancer census association via MalaCards
Search TH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TY3H_HUMAN
  • 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:0000269 PubMed:20809526}.
  • 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:0000269 PubMed:10585338, ECO:0000269 PubMed:11196107, ECO:0000269 PubMed:11246459, ECO:0000269 PubMed:15505183, ECO:0000269 PubMed:15747353, ECO:0000269 PubMed:16049992, ECO:0000269 PubMed:17696123, ECO:0000269 PubMed:18058633, ECO:0000269 PubMed:18554280, ECO:0000269 PubMed:19491146, ECO:0000269 PubMed:20056467, ECO:0000269 PubMed:20430833, ECO:0000269 PubMed:21940685, ECO:0000269 PubMed:22264700, ECO:0000269 PubMed:22815559, ECO:0000269 PubMed:23762320, ECO:0000269 PubMed:23939262, ECO:0000269 PubMed:24753243, ECO:0000269 PubMed:7814018, ECO:0000269 PubMed:9613851, ECO:0000269 PubMed:9703425}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TH

Genetic Association Database (GAD)
TH
Human Genome Epidemiology (HuGE) Navigator
TH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TH
genes like me logo Genes that share disorders with TH: view

No data available for Genatlas for TH Gene

Publications for TH Gene

  1. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID: 19491146) Clot F. … Brice A. (Brain 2009) 3 4 22 46 64
  2. Association study between a functional polymorphism of tyrosine hydroxylase gene promoter and personality traits in healthy subjects. (PMID: 19958792) Sadahiro R. … Otani K. (Behav. Brain Res. 2010) 3 22 46 64
  3. A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease. (PMID: 20809526) Bademci G. … Wang L. (Hum. Mutat. 2010) 3 4 46 64
  4. Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. (PMID: 20056467) Mak C.M. … Chan Y.W. (Mol. Genet. Metab. 2010) 3 4 22 64
  5. Association between Antipsychotics-Induced Restless Legs Syndrome and Tyrosine Hydroxylase Gene Polymorphism. (PMID: 20046397) Cho C.H. … Kim L. (Psychiatry Investig 2009) 3 22 46 64

Products for TH Gene

Sources for TH Gene

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