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

TH Gene

protein-coding   GIFtS: 72
GCID: GC11M002185

tyrosine hydroxylase

 Explore 164 diseases affiliated with
TH via our new
 Human Malady Compendium 
Biological research products
for TH
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Tyrosine Hydroxylase1 2     DYT142
TYH2 3 5     Dystonia 142
DYT5b1 2     Tyrosine 3-Monooxygenase2
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:
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)

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

Gene Wiki entry for TH (Tyrosine hydroxylase)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein: TH
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    Novus Biologicals TH Protein
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TH

    Gene Ontology (GO): 5/17 cellular component terms (GO ID links to tree view) (see all 17):    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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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TH for domains           About GeneDecksing

    5/6 InterPro domains/families (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 family: IPB001273 Aromatic amino acid hydroxylase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TH

    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity ----
    GO:0004511tyrosine 3-monooxygenase activity IDA2896667
    GO:0005506iron ion binding ----
    GO:0005515protein binding IPI11943812
    GO:0008198ferrous iron binding IEA--


    TH for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TH:
     Increased circadian period len 

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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/16 super-pathways (see all 16About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Tyrosine metabolism
    Tyrosine metabolism1.00
    Tyrosine metabolism p.1 (dopamine)0.28
    Tyrosine metabolism p.1 (dopamine) 0.28
    2Neuroscience
    Neuroscience1.00
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics1.00
    Nicotine Activity on Dopaminergic Neurons0.44
    5Regulation of thyroid hormone activity
    Amine-derived hormones0.21
    Biogenic Amine Synthesis0.00

    Pathway sources
    See GeneCards unified pathways
    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
    Parkinsons Disease Pathway
    SIDS Susceptibility Pathways
    Nicotine Activity on Dopaminergic Neurons
    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 (Neuroeffector Junction)

    3         Kegg Pathways  (Kegg details for TH):
        Tyrosine metabolism
    Metabolic pathways
    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, 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

    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

    10/127 Novoseek 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

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    Additional cDNA 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:

    M24790 BQ718391 T27948 NM_000360 NM_199293 NM_199292 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCTCCCTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    TH expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainSubstantia Nigra pars CompactaAdult Dopaminergic NeuronsDopaminergic neurons
    BrainSubstantia Nigra pars CompactaEmbryonic Dopaminergic NeuronsDopaminergic neurons
    BrainVentral Tegmental AreaAdult Dopaminergic NeuronsDopaminergic neurons
    BrainVentral Tegmental AreaEmbryonic Dopaminergic NeuronsDopaminergic neurons
    EyeGanglion Cell LayerDopaminergic Amacrine CellsAmacrine, Retina
    EyeInner Nuclear LayerDopaminergic Amacrine CellsAmacrine, Retina
    EyeGanglion Cell LayerCholinergic Amacrine CellsAmacrine, Retina
    EyeInner Nuclear LayerCholinergic Amacrine CellsAmacrine, Retina
    BrainCerebral CortexBrain
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/13 LifeMap Cells (see all 13
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Midbrain dopaminergic-like neurons (Derivation of functi...)
    Ventral midbrain dopaminergic-like neurons (Differentiation of h...)
    Ventral/hypothalamic-like neurons (Generation of midbra...)

    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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    (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 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    70(a)
    1 ↔ 1
    1(69910150-69935328)
    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
    PAH2  TPH22  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, UniProtKB, 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

    10/231 NCBI SNPs in TH are shown (see all 231    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs63561,2
    C,F,H,non-pathogenic6040147(-) AGGCCG/ATGCTA 6 /M /V mis1 ese325Minor allele frequency- A:0.33MN NS EA NA CSA WA EU 8395
    rs803388921,2
    C,pathogenic6041963(-) CCAGCA/GCAGGA 6 H R mis10--------
    rs289345811,2
    Cpathogenic6042873(-) ACGCCA/CCGCAC 6 T P mis12Minor allele frequency- C:0.00NA 4
    rs454712991,2
    Cpathogenic6045532(-) GTACAC/TGCTGG 6 T M mis11Minor allele frequency- T:0.00NA 2
    rs1119112701,2
    --1975059(+) CCTGCC/AGGCCC 3 -- ds50011Minor allele frequency- A:0.00CSA 1
    rs38427261,2
    C,--1975392(-) ACAGAG/CACAGA 3 -- ds500110Minor allele frequency- C:0.17EU CA EA WA CSA NS NA 879
    rs38427251,2
    C,--1975451(-) TCACCG/ATCACA 3 -- ut31 ese38Minor allele frequency- A:0.01EU CA EA WA CSA NS NA 760
    rs787796831,2
    C,--1975793(+) GGAGCG/ACCGCA 6 /R /C mis11Minor allele frequency- A:0.01WA 118
    rs38427231,2
    C,--1975982(-) GCCACT/CGTGAA 3 -- int17Minor allele frequency- C:0.06EU CA EA WA CSA NS 758
    rs1168317381,2
    C,F,--1976935(+) CCTGAC/TGCTGG 3 -- int11Minor allele frequency- T:0.06WA 118

    HapMap Linkage Disequilibrium report for TH (2185159 - 2193107 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TH: --
    Human Gene Mutation Database (HGMD): TH

    Locus Specific Mutation Databases (LSDB): TH

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TH for disorders           About GeneDecksing

    OMIM gene information: 191290   
    OMIM disorders: 605407  
    UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101
  • Defects in TH are the cause of 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=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

    20/164 diseases for TH (see all 164):    About MalaCards
    segawa syndrome    gtp cyclohydrolase i deficiency    chediak-higashi syndrome    dopa-responsive dystonia
    beckwith-wiedemann syndrome    sudden infant death syndrome    manic-depressive illness    segawa syndrome, recessive
    dihydropteridine reductase deficiency    central hypoventilation syndrome    tyrosine hydroxylase deficiency    segawa syndrome, autosomal recessive
    stiff-person syndrome    alcohol withdrawal delirium    supratentorial primitive neuroectodermal tumor    chiari malformation
    supranuclear palsy    guillain-barre syndrome    attention deficit hyperactivity disorder    primitive neuroectodermal tumor

    2 diseases from the University of Copenhagen DISEASES database for TH:
    Parkinson's disease     Toxic encephalopathy

    10/92 Novoseek 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
    Tyrosine Hydroxylase Deficiency

    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 1603):
    (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. 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)
    3. 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)
    4. 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)
    5. A study of TH01 and IGF2-INS-TH haplotypes in relation to smoking initiation in three independent surveys. (PubMed id 16344718)1, 4, 9 Rodriguez S....Day I.N. (2006)
    6. TH01, a tetrameric short tandem repeat locus in the tyrosine hydroxylase gene: association with myocardial hypertrophy and death from myocardial infarction? (PubMed id 15735319)1, 4, 9 Klintschar M....Kleiber M. (2005)
    7. Polymorphism of the insulin gene is associated with increased prostate cancer risk. (PubMed id 12610512)1, 4, 9 Ho G.Y....Chua S.C. (2003)
    8. VNTR polymorphism of tyrosine hydroxylase gene and schizophrenia in the Korean population. (PubMed id 12759555)1, 4, 9 Pae C.U....Paik I.H. (2003)
    9. Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. (PubMed id 8817341)1, 2, 9 Luedecke B.... Flatmark T. (1996)
    10. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. (PubMed id 8528210)1, 2, 9 Knappskog P.M.... Bartholome K. (1995)

    (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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