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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TH Gene

protein-coding   GIFtS: 75
GCID: GC11M002185

Tyrosine Hydroxylase

Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tyrosine Hydroxylase1 2     DYT142
TYH2 3 5     DYT5b2
Tyrosine 3-Monooxygenase1 2     Dystonia 142
Tyrosine 3-Hydroxylase2 3     EC 1.14.168
EC 1.14.16.23 8     

External Ids:    HGNC: 117821   Entrez Gene: 70542   Ensembl: ENSG000001801767   OMIM: 1912905   UniProtKB: P071013   

Export aliases for TH gene to outside databases

Previous GC identifers: GC11U990132 GC11M002273 GC11M002144 GC11M002149 GC11M002141 GC11M001982


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 tyrosine hydroxylase deficiency, and brain stem infarction, and among its related super-pathways are Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics and Metabolic pathways. GO annotations related to this gene include amino acid binding and protein domain specific binding. An important paralog of this gene is TPH2.

UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101
Function: Plays an important role in the physiology of adrenergic neurons

Gene Wiki entry for TH (Tyrosine hydroxylase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TH gene promoter:
         GR   CREB   deltaCREB   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTH promoter sequence
   Search SABiosciences Chromatin IP Primers for TH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

TH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TH gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M002185:  view genomic region     (about GC identifiers)

Start:
2,185,159 bp from pter      End:
2,193,107 bp from pter
Size:
7,949 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101 (See protein sequence)
Recommended Name: Tyrosine 3-monooxygenase  
Size: 528 amino acids; 58600 Da
Cofactor: Fe(2+) ion
1 PDB 3D structure from and Proteopedia for TH:
2XSN (3D)    
Secondary accessions: B7ZL70 Q15585 Q15588 Q15589
Alternative splicing: 4 isoforms:  P07101-1   P07101-2   P07101-3   P07101-4   

Explore the universe of human proteins at neXtProt for TH: NX_P07101

Explore proteomics data for TH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07101

  • 4/19 DME Specific Peptides for TH (P07101) (see all 19)
     EFGLCKQ  IGLASLG  PQLEDVS  SLGASDE 

    TH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TH Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000351.2  NP_954986.2  NP_954987.2  

    ENSEMBL proteins: 
     ENSP00000370571   ENSP00000370567   ENSP00000325951   ENSP00000325831   ENSP00000403440  
     ENSP00000403546   ENSP00000370560   ENSP00000328814  
    Reactome Protein details: P07101
    Human Recombinant Protein Products for TH: 
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    OriGene Protein Over-expression Lysate for TH
    OriGene MassSpec for TH 
    OriGene Custom Protein Services for TH
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    Novus Biologicals TH Protein
    Novus Biologicals TH Lysate
    Sino Biological Recombinant Protein for TH
    Sino Biological Cell Lysate for TH 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TH 

    Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm IDA10907721
    GO:0005739mitochondrion IEA--
    GO:0005790smooth endoplasmic reticulum IDA12457228
    GO:0005829cytosol TAS--

    TH for ontologies           About GeneDecksing



    TH Antibody Products: 
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    Cloud-Clone Corp. ELISAs for TH 
    Cloud-Clone Corp. CLIAs for TH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: L-Tyrosine hydroxylase  
    Amino acid hydroxylases

    5/6 InterPro protein domains (see all 6):
     IPR019774 Aromatic-AA_hydroxylase_C
     IPR021164 Tyrosine_hydroxylase_CS
     IPR019773 Tyrosine_3-monooxygenase-like
     IPR001273 ArAA_hydroxylase
     IPR018301 ArAA_hydroxylase_Fe/CU_BS

    Graphical View of Domain Structure for InterPro Entry P07101

    ProtoNet protein and cluster: P07101

    1 Blocks protein domain: IPB001273 Aromatic amino acid hydroxylase

    UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101
    Similarity: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family


    TH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TY3H_HUMAN, P07101
    Function: Plays an important role in the physiology of adrenergic neurons
    Catalytic activity: L-tyrosine + tetrahydrobiopterin + O(2) = L-dopa + 4a-hydroxytetrahydrobiopterin
    Enzyme regulation: Phosphorylation leads to an increase in the catalytic activity

         Genatlas biochemistry entry for TH:
    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)

         Enzyme Numbers (IUBMB): EC 1.14.16.21 2 EC 1.14.162

         Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity ----
    GO:0004511tyrosine 3-monooxygenase activity TAS--
    GO:0005506iron ion binding ----
    GO:0005515protein binding IPI11943812
    GO:0008198ferrous iron binding IEA--
         
    TH for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TH:
     Increased circadian period len 

         15 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Th):
     behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  integument  liver/biliary system  mortality/aging  nervous system 
     no phenotypic analysis  normal  respiratory system  tumorigenesis  vision/eye 

    TH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TH: Thtm1Tna Thtm2Rpa Thtm1Srt Thtm1Rpa

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TH 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TH 

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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TH


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TH About   (see all 21)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics0.44
    Nicotine Activity on Dopaminergic Neurons0.44
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Regulation of thyroid hormone activity
    Amine-derived hormones0.43
    Biogenic Amine Synthesis0.32
    4Amphetamine addiction
    Amphetamine addiction0.44
    Cocaine addiction0.44
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TH
        Tyrosine metabolism p.1 (dopamine)

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TH
        PKA Signaling

    1 Cell Signaling Technology (CST) Pathway for TH
        Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for TH
        Tyrosine metabolism p.1 (dopamine)

    5/8 BioSystems Pathways for TH (see all 8)
        Biogenic Amine Synthesis
    Nicotine Activity on Dopaminergic Neurons
    SIDS Susceptibility Pathways
    Parkinsons Disease Pathway
    Monoamine Transport


    4        Reactome Pathways for TH
        Catecholamine biosynthesis
    Amine-derived hormones
    Metabolism
    Metabolism of amino acids and derivatives

    2 PharmGKB Pathways for TH
        Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)

    5/8         Kegg Pathways  (Kegg details for TH) (see all 8):
        Tyrosine metabolism
    Metabolic pathways
    Dopaminergic synapse
    Prolactin signaling pathway
    Parkinson's disease

    UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101
    Pathway: Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 1/2


    TH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/35 Interacting proteins for TH (P071012, 3 ENSP000003705714) via UniProtKB, MINT, STRING, and/or I2D (see all 35)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-8008185 MINT-8009319 I2D: score=4 STRING: ENSP00000309503
    YWHAGP619812, 3, ENSP000003063304MINT-8009326 I2D: score=1 STRING: ENSP00000306330
    MAPK1P284823, ENSP000002158324I2D: score=3 STRING: ENSP00000215832
    PRKACAP176123, ENSP000003095914I2D: score=3 STRING: ENSP00000309591
    GCH1P307933, ENSP000003788904I2D: score=2 STRING: ENSP00000378890
    About this table

    Gene Ontology (GO): 5/70 biological process terms (GO ID links to tree view) (see all 70):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IDA17520326
    GO:0001963synaptic transmission, dopaminergic ISS--
    GO:0001975response to amphetamine IEA--
    GO:0003007heart morphogenesis NAS12113410
    GO:0006585dopamine biosynthetic process from tyrosine NAS10907721

    TH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for TH

    Browse Tocris compounds for TH (TY3H)

    10/11 HMDB Compounds for TH (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dihydrobiopterin(S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone (see all 15)6779-87-99753429
    Tetrahydrobiopterin(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)17528-72-212641743
    4a-Hydroxytetrahydrobiopterin2-amino-6-(1,2-dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4aH)-one (see all 7)70110-58-6--
    DL-Dopa2-Amino-3-(3,4-dihydroxyphenyl)propanoate (see all 19)63-84-3--
    IronArmco iron (see all 19)7439-89-6--
    L-Dopa(-)-Dopa (see all 58)59-92-7--
    L-Phenylalanine(-)-beta-Phenylalanine (see all 28)63-91-2--
    L-Tyrosine(-)-a-Amino-p-hydroxyhydrocinnamate (see all 28)60-18-4--
    OxygenOxygen (see all 5)7782-44-7--
    Sapropterin(6R)-5,6,7,8-Tetrahydro-L-biopterin (see all 11)62989-33-7--

    6 DrugBank Compounds for TH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Phenylalanine(S)-alpha-Amino-beta-phenylpropionic acid (see all 4)63-91-2targetbinder12565907 6621777 1973034 11752352 9642259 16581181
    L-Tyrosine2-Amino-3-(p-hydroxyphenyl)propionic acid (see all 3)60-18-4targetbinder17578016 17604359 17561836 11752352 17451064 17520326
    Tetrahydrobiopterin5,6,7,8 Tetrahydrobiopterin (see all 3)17528-72-2targetcofactor11752352 10411647 10643998 10543618 10464780 10197775
    MetyrosineMethyltyrosine (see all 2)672-87-7targetbinder17374 7409209 11752352 1168577 15710413
    7,8-Dihydrobiopterin7,8-Dihydro-L-Biopterin (see all 8)6779-87-9target--17139284 17016423 10592235
    Meta-Tyrosine-- --target--17139284 17016423 10592235

    4 IUPHAR Ligands for TH (L-Tyrosine hydroxylase )    About this table 
    LigandTypeActionAffinityPubmed IDs
    3-iodotyrosine
    InhibitorInhibition--
    3-chlorotyrosine
    InhibitorInhibition--
    α-propyldopacetamide
    InhibitorInhibition--
    α-methyltyrosine
    InhibitorInhibition--

    10/127 Novoseek inferred chemical compound relationships for TH gene (see all 127)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 95.8 5025 1967817 (11), 1350320 (9), 15569247 (8), 20430833 (8) (see all 99)
    dopamine 90.3 1506 18513370 (6), 9577670 (5), 8917440 (5), 1685006 (4) (see all 99)
    catecholamine 87.3 446 8103492 (4), 17698732 (4), 11677263 (3), 19120120 (3) (see all 99)
    tyrh(.+) 85.8 7 15468323 (1), 14692751 (1), 20025246 (1), 15287903 (1) (see all 7)
    levodopa 84.5 331 11483656 (7), 9326301 (5), 7971745 (4), 9626667 (4) (see all 99)
    tetrahydrobiopterin 83.1 107 14500751 (4), 8822146 (3), 9692753 (2), 10938545 (2) (see all 63)
    tcat 82 15 11475015 (1), 12428766 (1), 7551967 (1), 18096443 (1) (see all 8)
    tetrahydropterin 80.8 4 1675871 (1), 19281164 (1), 8917440 (1), 16618490 (1)
    l-amino acid 80.3 91 9924972 (3), 9148252 (2), 10366680 (2), 11263376 (2) (see all 49)
    6-hydroxydopamine 79.9 28 11036157 (2), 9622240 (1), 17437548 (1), 12433403 (1) (see all 18)

    Search CenterWatch for drugs/clinical trials and news about TH / TY3H

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TH gene (3 alternative transcripts): 
    NM_000360.3  NM_199292.2  NM_199293.2  

    Unigene Cluster for TH:

    Tyrosine hydroxylase
    Hs.435609  [show with all ESTs]
    Unigene Representative Sequence: M17589
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381178(uc001lvq.3 uc010qxj.2 uc001lvt.3) ENST00000381175(uc001lvp.3)
    ENST00000352909(uc001lvr.3 uc001lvs.3) ENST00000324155(uc009ydh.1)
    ENST00000479437 ENST00000416223 ENST00000412076 ENST00000461172 ENST00000381168
    ENST00000469226 ENST00000333684
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Additional mRNA sequence: 

    AY144494.1 AY144495.1 BC104967.1 BC143611.1 BC143614.1 DQ677336.1 DQ677337.1 M17589.1 
    M20912.1 M24790.1 X05290.1 Y00414.1 

    8 DOTS entries:

    DT.108479  DT.100751588  DT.100022747  DT.91740988  DT.120712419  DT.95159269  DT.102843985  DT.95237873 

    6 AceView cDNA sequences:

    T27948 M24790 BQ718391 NM_000360 NM_199292 NM_199293 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for TH (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for TH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TH expression in normal human tissues (normalized intensities)      TH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTCCCTGC
    TH Expression
    About this image


    TH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 37 entries
             Embryonic Dopaminergic Neurons Ventral Tegmental Area
             Thalamus
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
             Septum   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Dopaminergic Amacrine Cells Inner Nuclear Layer
     
     Uncategorized (Uncategorized)    fully expand to see all 4 entries
             PureStem Progenitor SM22
     
     Spinal Cord (Nervous System)    fully expand to see all 4 entries
             Dorsal Horn   

    See TH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TH

    SOURCE GeneReport for Unigene cluster: Hs.435609

    UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101
    Tissue specificity: Mainly expressed in the brain and adrenal glands

        SABiosciences Expression via Pathway-Focused PCR Arrays including TH: 
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              Amino Acid Metabolism II in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TH gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Th1 , 5 tyrosine hydroxylase1, 5 83(n)1
    88.31(a)1
      7 (88.06 cM)5
    218231  NM_009377.11  NP_033403.11 
     1428927525 
    chicken
    (Gallus gallus)
    Aves TH1 tyrosine hydroxylase 75.1(n)
    77.76(a)
      395592  NM_204805.1  NP_990136.1 
    lizard
    (Anolis carolinensis)
    Reptilia TH6
    Uncharacterized protein
    70(a)
    1 ↔ 1
    1(69910150-69939848)
    zebrafish
    (Danio rerio)
    Actinopterygii th1 tyrosine hydroxylase 67.14(n)
    70.08(a)
      30384  NM_131149.1  NP_571224.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ple1 , 3 catecholamine metabolism tyrosine
    3-monooxygenase3
    pale1
    54(a)3
    60.39(n)1
    51.86(a)1
      3 65C33
    387461  NM_057549.21  NP_476897.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cat-21 , 3 Expression: dopaminergic neurons,
    neurons3
    Protein CAT-21
    53(a)3
    54.37(n)1
    54.27(a)1
      II(257818-260965)3
    1734111  NM_182103.21  NP_871903.21 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TH gene
    TPH22  PAH2  TPH12  
    3 SIMAP similar genes for TH using alignment to 15 protein entries:     TY3H_HUMAN (see all proteins):
    TPH1    TPH2    PAH

    TH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/349 SNPs in TH are shown (see all 349)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0140314
    Segawa syndrome autosomal recessive (ARSEGS)4--see VAR_0140312 Q K mis40--------
    VAR_0140294
    Segawa syndrome autosomal recessive (ARSEGS)4--see VAR_0140292 T M mis40--------
    VAR_0140274
    Segawa syndrome autosomal recessive (ARSEGS)4--see VAR_0140272 L P mis40--------
    VAR_0140264
    Segawa syndrome autosomal recessive (ARSEGS)4--see VAR_0140262 R H mis40--------
    rs454712991,2,4
    CSegawa syndrome autosomal recessive (ARSEGS)4 pathogenic12119616(-) GTACAC/TGCTGG 6 T M mis11Minor allele frequency- T:0.00NA 2
    rs289345801,2,4
    CSegawa syndrome autosomal recessive (ARSEGS)4 pathogenic12121970(-) CTTCCA/GCGTGT 6 H R mis1 ese30--------
    rs289345811,2,4
    CSegawa syndrome autosomal recessive (ARSEGS)4 pathogenic12122272(-) ACGCCA/CCGCAC 6 T P mis10--------
    rs63561,2,4
    C,F,Hnon-pathogenic12124998(-) AGGCCG/ATGCTA 6 /M /V mis1 ese325Minor allele frequency- A:0.33MN NS EA NA CSA WA EU 8395
    rs803388921,2
    Cpathogenic12123182(-) CCAGCA/GCAGGA 6 H R mis10--------
    rs1426691481,2
    C--2118813(+) GGGAGA/CCCTGT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for TH (2185159 - 2193107 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for TH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv896801CNV Loss21882294
    dgv994n71CNV Loss21882294
    nsv896776CNV Loss21882294
    dgv995n71CNV Loss21882294
    nsv469927CNV Loss18288195
    nsv896797CNV Loss21882294
    nsv896798CNV Loss21882294
    dgv992n71CNV Loss21882294
    dgv997n71CNV Loss21882294
    nsv467645CNV Gain19166990


    Human Gene Mutation Database (HGMD): TH

    Locus Specific Mutation Databases (LSDB): TH
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing TH
    DNA2.0 Custom Variant and Variant Library Synthesis for TH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 191290   
    OMIM disorders: 605407  
    UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101
  • 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. 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

  • 20/148 diseases for TH (see all 148):    About MalaCards
    tyrosine hydroxylase deficiency    brain stem infarction    adjustment disorder    segawa syndrome, recessive
    tyrosine hydroxylase-deficient dopa-responsive dystonia    segawa syndrome, autosomal recessive    chiari malformations    gangliocytoma
    epicondylitis    dopa-responsive dystonia    sydenham's chorea    opiate dependence
    placental insufficiency    delusional disorder    pure autonomic failure    dihydropteridine reductase deficiency
    gtp cyclohydrolase i deficiency    chediak-higashi syndrome    hemihypertrophy    stiff-person syndrome

    8 diseases from the University of Copenhagen DISEASES database for TH:
    Parkinson's disease     Toxic encephalopathy     Neuroblastoma     Schizophrenia
    Lewy body dementia     Multiple system atrophy     Movement disease     Hypertension

    TH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/92 Novoseek inferred disease relationships for TH gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinson disease 87.1 130 7893377 (4), 10518586 (3), 8822146 (2), 1349211 (2) (see all 81)
    dystonia, dopa-responsive, autosomal recessive 76 1 15476168 (1)
    gtp cyclohydrolase i deficiency 72.7 4 12891655 (3), 10079965 (1)
    parkinsonism 70.2 17 11134401 (1), 18419768 (1), 1356749 (1), 10023444 (1) (see all 14)
    pheochromocytoma 63 73 1678741 (4), 1353277 (4), 12651811 (3), 7602797 (3) (see all 36)
    neurodegenerative diseases 57.5 3 9228951 (1), 15933869 (1)
    lewy body disease 55.7 8 18386627 (2), 17493034 (1), 15933869 (1), 17985144 (1)
    neurodegeneration 54.2 12 16543240 (1), 17442064 (1), 1975089 (1), 15681811 (1) (see all 8)
    schizophrenia 45.6 57 7893377 (3), 9613851 (3), 20067853 (3), 9686421 (2) (see all 28)
    multiple system atrophy 45.6 4 15933869 (1), 10690993 (1)

    GeneTests: TH
    GeneReviews: TH
    Genetic Association Database (GAD): TH
    Human Genome Epidemiology (HuGE) Navigator: TH (750 documents)

    Export disorders for TH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TH gene, integrated from 9 sources (see all 1609):
    (articles sorted by number of sources associating them with TH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease. (PubMed id 9613851)1, 2, 4, 9 Kunugi H.... Nanko S. (1998)
    2. A rare novel deletion of the tyrosine hydroxylase gen e in Parkinson disease. (PubMed id 20809526)1, 2, 4 Bademci G....Wang L. (2010)
    3. Adrenergic polymorphism and the human stress response. (PubMed id 19120120)1, 4, 9 Rao F....O'Connor D.T. (2008)
    4. Polymorphisms of genes for brain-derived neurotrophic factor, methylenetetrahydrofolate reductase, tyrosine hydroxylase, and endothe lial nitric oxide synthase in depression and metabolic syndrome. (PubMed id 20163778)1, 4, 9 Zeman M....ZA!k A. (2010)
    5. Tyrosine hydroxylase and DOPA decarboxylase gene variants in personality traits. (PubMed id 19221445)1, 4, 9 Giegling I....Serretti A. (2009)
    6. Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease. (PubMed id 16643317)1, 4, 9 Hertz J.M....Dupont E. (2006)
    7. Combined analysis of association between personality traits and three functional polymorphisms in the tyrosine hydroxylase, monoamine oxidase A, and catechol-O-methyltransferase genes. (PubMed id 16360899)1, 4, 9 Tochigi M....Sasaki T. (2006)
    8. Nicotine dependence in a prospective population-based study of adolescents: the protective role of a functional tyrosine hydroxylase polymorphism. (PubMed id 15077008)1, 4, 9 Anney R.J....Williamson R. (2004)
    9. Systematic search for variations in the tyrosine hydroxylase gene and their associations with schizophrenia, affective disorders, and alcoholism. (PubMed id 9754624)1, 2, 9 Ishiguro H.... Shibuya H. (1998)
    10. Association study between a functional polymorphism o f tyrosine hydroxylase gene promoter and personality traits in healthy subjects . (PubMed id 19958792)1, 4, 9 Sadahiro R....Otani K. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7054 HGNC: 11782 AceView: TH Ensembl:ENSG00000180176 euGenes: HUgn7054
    ECgene: TH Kegg: 7054 H-InvDB: TH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TH
    Wikipedia http://en.wikipedia.org/wiki/Tyrosine_hydroxylase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TH gene:
    Search GeneIP for patents involving TH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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