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    TH tyrosine hydroxylase [ Homo sapiens (human) ]

    Gene ID: 7054, updated on 26-Jul-2015
    Official Symbol
    THprovided by HGNC
    Official Full Name
    tyrosine hydroxylaseprovided by HGNC
    Primary source
    HGNC:HGNC:11782
    See related
    Ensembl:ENSG00000180176; HPRD:01865; MIM:191290; Vega:OTTHUMG00000009559
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TYH; DYT14; DYT5b
    Summary
    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]
    Orthologs
    Location:
    11p15.5
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (2163929..2172137, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2185159..2193107, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene INS-IGF2 readthrough Neighboring gene insulin-like growth factor 2 Neighboring gene IGF2 antisense RNA Neighboring gene insulin Neighboring gene microRNA 4686 Neighboring gene achaete-scute family bHLH transcription factor 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Segawa syndrome, autosomal recessive Compare labs

    NHGRI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    NHGRI GWA Catalog
    Genome-wide association scan for variants associated with early-onset prostate cancer.
    NHGRI GWA Catalog
    Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat In vivo injection of HIV-1 Tat into the striatum of rats caused a loss of tyrosine hydroxylase positive neurons, which may contribute to the explanation of the pathogenesis of the motorial abnormalities often reported in HIV-1 seropositive individuals PubMed
    tat Treatment of dopaminergic rat PC12 cells with HIV-1 Tat downregulates the expression of tyrosine hydroxylase (TH) by upregulating the expression of the inducible cAMP early repressor which in turn abrogates the transcription activity of the TH promoter PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    amino acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    dopamine binding IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ferric iron binding IEA
    Inferred from Electronic Annotation
    more info
     
    ferrous iron binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxygen binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    tetrahydrobiopterin binding IEA
    Inferred from Electronic Annotation
    more info
     
    tyrosine 3-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tyrosine 3-monooxygenase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    catecholamine biosynthetic process TAS
    Traceable Author Statement
    more info
     
    cellular nitrogen compound metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to manganese ion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    circadian sleep/wake cycle IEA
    Inferred from Electronic Annotation
    more info
     
    dopamine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dopamine biosynthetic process from tyrosine NAS
    Non-traceable Author Statement
    more info
    PubMed 
    eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic camera-type eye morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epinephrine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    eye photoreceptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glycoside metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart morphogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    isoquinoline alkaloid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    learning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    multicellular organismal aging IEA
    Inferred from Electronic Annotation
    more info
     
    neurotransmitter biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    norepinephrine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    organ morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    phthalate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    phytoalexin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    pigmentation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of heart contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
     
    response to corticosterone IEA
    Inferred from Electronic Annotation
    more info
     
    response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to ether IEA
    Inferred from Electronic Annotation
    more info
     
    response to herbicide IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to immobilization stress IEA
    Inferred from Electronic Annotation
    more info
     
    response to isolation stress IEA
    Inferred from Electronic Annotation
    more info
     
    response to light stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to pyrethroid IEA
    Inferred from Electronic Annotation
    more info
     
    response to salt stress IEA
    Inferred from Electronic Annotation
    more info
     
    response to water deprivation IEA
    Inferred from Electronic Annotation
    more info
     
    response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    social behavior IEA
    Inferred from Electronic Annotation
    more info
     
    sphingolipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic transmission, dopaminergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synaptic vesicle amine transport IEA
    Inferred from Electronic Annotation
    more info
     
    terpene metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    melanosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    perikaryon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    smooth endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    terminal bouton IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    tyrosine 3-monooxygenase
    Names
    dystonia 14
    tyrosine 3-hydroxylase
    NP_000351.2
    NP_954986.2
    NP_954987.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008128.1 RefSeqGene

      Range
      5001..12877
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000360.3NP_000351.2  tyrosine 3-monooxygenase isoform b

      See identical proteins and their annotated locations for NP_000351.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different donor splice site at the first coding exon and is missing an adjacent in-frame coding exon compared to transcript variant 1, resulting in an isoform (b) missing a 31 aa segment compared to isoform a.
      Source sequence(s)
      AA447751, BM718799, X05290
      Consensus CDS
      CCDS7730.1
      UniProtKB/Swiss-Prot
      P07101
      Related
      ENSP00000325951, OTTHUMP00000011163, ENST00000352909, OTTHUMT00000026397
      Conserved Domains (4) summary
      TIGR01269
      Location:38494
      Tyr_3_monoox; tyrosine 3-monooxygenase, tetrameric
      pfam12549
      Location:226
      TOH_N; Tyrosine hydroxylase N terminal
      cd04930
      Location:38159
      ACT_TH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tyrosine hydroxylases (TH)
      cd03345
      Location:165462
      eu_TyrOH; Eukaryotic tyrosine hydroxylase (TyrOH); a member of the biopterin-dependent aromatic amino acid hydroxylase family of non-heme, iron(II)-dependent enzymes that also includes prokaryotic and eukaryotic phenylalanine-4-hydroxylase (PheOH) and eukaryotic ...
    2. NM_199292.2NP_954986.2  tyrosine 3-monooxygenase isoform a

      See identical proteins and their annotated locations for NP_954986.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BM718799, M17589, M24790
      Consensus CDS
      CCDS7731.1
      UniProtKB/Swiss-Prot
      P07101
      UniProtKB/TrEMBL
      P78428
      Related
      ENSP00000370571, OTTHUMP00000011225, ENST00000381178, OTTHUMT00000026597
      Conserved Domains (4) summary
      TIGR01269
      Location:69525
      Tyr_3_monoox; tyrosine 3-monooxygenase, tetrameric
      pfam12549
      Location:226
      TOH_N; Tyrosine hydroxylase N terminal
      cd04930
      Location:69190
      ACT_TH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tyrosine hydroxylases (TH)
      cd03345
      Location:196493
      eu_TyrOH; Eukaryotic tyrosine hydroxylase (TyrOH); a member of the biopterin-dependent aromatic amino acid hydroxylase family of non-heme, iron(II)-dependent enzymes that also includes prokaryotic and eukaryotic phenylalanine-4-hydroxylase (PheOH) and eukaryotic ...
    3. NM_199293.2NP_954987.2  tyrosine 3-monooxygenase isoform c

      See identical proteins and their annotated locations for NP_954987.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses a different donor splice site at the first coding exon compared to transcript variant 1, resulting in an isoform (c) missing a 4 aa segment compared to isoform a.
      Source sequence(s)
      AA447751, BM718799, M24790, Y00414
      Consensus CDS
      CCDS31338.1
      UniProtKB/Swiss-Prot
      P07101
      UniProtKB/TrEMBL
      P78428
      Related
      ENSP00000370567, OTTHUMP00000011226, ENST00000381175, OTTHUMT00000026598
      Conserved Domains (4) summary
      TIGR01269
      Location:65521
      Tyr_3_monoox; tyrosine 3-monooxygenase, tetrameric
      pfam12549
      Location:226
      TOH_N; Tyrosine hydroxylase N terminal
      cd04930
      Location:65186
      ACT_TH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tyrosine hydroxylases (TH)
      cd03345
      Location:192489
      eu_TyrOH; Eukaryotic tyrosine hydroxylase (TyrOH); a member of the biopterin-dependent aromatic amino acid hydroxylase family of non-heme, iron(II)-dependent enzymes that also includes prokaryotic and eukaryotic phenylalanine-4-hydroxylase (PheOH) and eukaryotic ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      2163929..2172137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520335.1XP_011518637.1  

      See identical proteins and their annotated locations for XP_011518637.1

      UniProtKB/Swiss-Prot
      P07101
      Conserved Domains (4) summary
      TIGR01269
      Location:42498
      Tyr_3_monoox; tyrosine 3-monooxygenase, tetrameric
      pfam12549
      Location:226
      TOH_N; Tyrosine hydroxylase N terminal
      cd04930
      Location:42163
      ACT_TH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tyrosine hydroxylases (TH)
      cd03345
      Location:169466
      eu_TyrOH; Eukaryotic tyrosine hydroxylase (TyrOH); a member of the biopterin-dependent aromatic amino acid hydroxylase family of non-heme, iron(II)-dependent enzymes that also includes prokaryotic and eukaryotic phenylalanine-4-hydroxylase (PheOH) and eukaryotic ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      2183941..2191817
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)