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FLASH GENE
Symbol TH contributors: mct/npt - updated : 10-01-2009
HGNC name tyrosine hydroxylase
HGNC id 11782
Corresponding disease
DPDV dystonia, progressive, with diurnal variation, L-dopa-responsive
Location 11p15.5      Physical location : 2.185.159 - 2.193.035
Synonym name
  • tyrosine 3-monooxygenase
  • tyrosine 3-hydroxylase
  • Synonym symbol(s) THO, TYH, DYT5b
    EC.number 1.14.16.2
    DNA
    TYPE functioning gene
    STRUCTURE 7.88 kb     14 Exon(s)    1 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure
  • potential recognition sites for NR4A2, HNF-3beta, HOXA4 and HOXA5
  • four bicoid binding elements (for the transcription factor Pitx3)
  • MAPPING cloned Y linked Y status confirmed
    Map see PTH PTH ,INS
    Physical map
    TOLLIP 11p15.5 toll interacting protein STK29 11p15.5 serine/threonine kinase 29 HCCA2 11p15.5 HCCA2 protein DUSP8 11p15.5 dual specificity phosphatase 8 LOC387741 11 hypothetical gene supported by AK124823 LOC387742 11 hypothetical gene supported by AK124823 CTSD 11p15.5 cathepsin D (lysosomal aspartyl protease) LOC255701 11p15.5 similar to large subunit ribosomal protein L36a LOC390029 11 similar to A-X actin SYT8 11p15.5 synaptotagmin VIII TNNI2 11p15.5 troponin I, skeletal, fast LSP1 11p15.5 lymphocyte-specific protein 1 TNNT3 11p15.5 troponin T3, skeletal, fast MRPL23 11p15.5 mitochondrial ribosomal protein L23 LOC387743 11 LOC387743 H19 11p15.5 H19, imprinted maternally expressed untranslated mRNA IGF2 11p15.5 insulin-like growth factor 2 (somatomedin A) IGF2AS 11p15.5 insulin-like growth factor 2, antisense INS 11p15.5 insulin TH 11p15.5 tyrosine hydroxylase ASCL2 11p15.5 achaete-scute complex-like 2 (Drosophila) C11orf21 11p15.5 chromosome 11 open reading frame 21 PHEMX 11p15.5 pan-hematopoietic expression CD81 11p15.5 CD81 antigen (target of antiproliferative antibody 1) TSSC4 11p15.5 tumor suppressing subtransferable candidate 4 TRPM5 11p15.5 transient receptor potential cation channel, subfamily M, member 5 KCNQ1 11p15.5 potassium voltage-gated channel, KQT-like subfamily, member 1 CDKN1C 11p15.5 cyclin-dependent kinase inhibitor 1C (p57, Kip2) HSA404617 11p15.5 BWRT protein SLC22A1LS 11p15.5 solute carrier family 22 (organic cation transporter), member 1-like antisense SLC22A1L 11p15.5 solute carrier family 22 (organic cation transporter), member 1-like PHLDA2 11p15.5 pleckstrin homology-like domain, family A, member 2 NAP1L4 11p15.5 nucleosome assembly protein 1-like 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 1910 - 528 - Benavides-Piccione, Roma (2007)
    isoform a
    14 - 1898 - 524 - Benavides-Piccione, Roma (2007)
    isoform c
    13 - 1817 - 497 - Benavides-Piccione, Roma (2007)
    isoform b
    - - - - - in neuroblastoma and adrenal glands Roma (2007)
    also called TH isoforms Delta2,8,9
    - - - - - in neuroblastoma and adrenal glands Roma (2007)
    also called Delta1b,2,8,9
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
    Endocrineadrenal gland   highly
     pancreas   highly
    Nervousbraindiencephalonhypothalamusnucleus accumbens 
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Th
    Homologene
    FAMILY
  • biopterin-dependent aromatic amino acid hydroxylase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • tyrosine 3-monooxygenase
  • potentially associated with longevity in the male
  • catalyzes the rate limiting step in the biosynthesis of catecholamines in the central and peripheral nervous system
  • the promoter is able to direct GFP expression to TH+ neurons of substantia nigra
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    catecholamines
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • ferrous ion
  • protein
  • up-regulating retinal genes (OPN1MW, OPN1LW, TIMP3, RP1L1, GNGT2, CRX, ARR3, GUCA1A, IMPDH1, and PDE6C) (Liu 2007)
  • down-regulating retinal genes GNGT1 and GNB3 (Liu 2007)
  • cell & other
    REGULATION
    Other catalytic activity increased by phosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s) DPDV
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in schizophrenia, bipolar disorder and alcoholism
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS