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    TH tyrosine hydroxylase [ Homo sapiens (human) ]

    Gene ID: 7054, updated on 23-Nov-2023

    Summary

    Official Symbol
    THprovided by HGNC
    Official Full Name
    tyrosine hydroxylaseprovided by HGNC
    Primary source
    HGNC:HGNC:11782
    See related
    Ensembl:ENSG00000180176 MIM:191290; AllianceGenome:HGNC:11782
    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]
    Expression
    Restricted expression toward adrenal (RPKM 42.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    11p15.5
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2163929..2171815, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2253295..2261192, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2185159..2193045, 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 repeat instability region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2198066-2198912 Neighboring gene insulin Neighboring gene microRNA 4686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2225905-2226503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2233643-2234213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2235935-2236495 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:2244593-2245167 Neighboring gene achaete-scute family bHLH transcription factor 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive DOPA responsive dystonia Compare labs

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amino acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables dopamine binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ferric iron binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ferrous iron binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxygen binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables tetrahydrobiopterin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables tyrosine 3-monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables tyrosine 3-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aminergic neurotransmitter loading into synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in animal organ morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to alkaloid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to manganese ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in circadian sleep/wake cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dopamine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in dopamine biosynthetic process from tyrosine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dopamine biosynthetic process from tyrosine NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic camera-type eye morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epinephrine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in eye photoreceptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycoside metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart morphogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in hyaloid vascular plexus regression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in isoquinoline alkaloid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in learning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in norepinephrine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phthalate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phytoalexin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pigmentation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of heart contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to corticosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ethanol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to ethanol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to ether IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to herbicide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to immobilization stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to isolation stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to light stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to pyrethroid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to salt stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in social behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sphingolipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic transmission, dopaminergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in terpene metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in melanosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in perikaryon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in perikaryon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in smooth endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in terminal bouton IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    tyrosine 3-monooxygenase
    Names
    dystonia 14
    tyrosine 3-hydroxylase
    NP_000351.2
    NP_954986.2
    NP_954987.2
    XP_011518637.1
    XP_054225745.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4991..12877
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000360.4NP_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, AC132217, BM718799, X05290
      Consensus CDS
      CCDS7730.1
      UniProtKB/Swiss-Prot
      P07101
      Related
      ENSP00000325951.4, ENST00000352909.8
      Conserved Domains (4) summary
      TIGR01269
      Location:38494
      Tyr_3_monoox; tyrosine 3-monooxygenase, tetrameric
      cd04930
      Location:38159
      ACT_TH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tyrosine hydroxylases (TH)
      pfam00351
      Location:164494
      Biopterin_H; Biopterin-dependent aromatic amino acid hydroxylase
      pfam12549
      Location:226
      TOH_N; Tyrosine hydroxylase N terminal
    2. NM_199292.3NP_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)
      AC132217, BM718799, M17589, M24790
      Consensus CDS
      CCDS7731.1
      UniProtKB/Swiss-Prot
      B7ZL70, B7ZL73, P07101, Q0PWM2, Q0PWM3, Q15585, Q15588, Q15589, Q2M3B4
      Related
      ENSP00000370571.1, ENST00000381178.5
      Conserved Domains (4) summary
      TIGR01269
      Location:69525
      Tyr_3_monoox; tyrosine 3-monooxygenase, tetrameric
      cd04930
      Location:69190
      ACT_TH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tyrosine hydroxylases (TH)
      pfam00351
      Location:195525
      Biopterin_H; Biopterin-dependent aromatic amino acid hydroxylase
      pfam12549
      Location:226
      TOH_N; Tyrosine hydroxylase N terminal
    3. NM_199293.3NP_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, AC132217, BM718799, M24790, Y00414
      Consensus CDS
      CCDS31338.1
      UniProtKB/Swiss-Prot
      P07101
      UniProtKB/TrEMBL
      P78428
      Related
      ENSP00000370567.1, ENST00000381175.5
      Conserved Domains (4) summary
      TIGR01269
      Location:65521
      Tyr_3_monoox; tyrosine 3-monooxygenase, tetrameric
      cd04930
      Location:65186
      ACT_TH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tyrosine hydroxylases (TH)
      pfam00351
      Location:191521
      Biopterin_H; Biopterin-dependent aromatic amino acid hydroxylase
      pfam12549
      Location:226
      TOH_N; Tyrosine hydroxylase N terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      2163929..2171815 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520335.3XP_011518637.1  tyrosine 3-monooxygenase isoform X1

      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
      cd04930
      Location:42163
      ACT_TH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tyrosine hydroxylases (TH)
      pfam00351
      Location:168498
      Biopterin_H; Biopterin-dependent aromatic amino acid hydroxylase
      pfam12549
      Location:226
      TOH_N; Tyrosine hydroxylase N terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      2253295..2261192 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369770.1XP_054225745.1  tyrosine 3-monooxygenase isoform X1