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TH tyrosine hydroxylase [ Homo sapiens (human) ]

Gene ID: 7054, updated on 13-Jun-2021

Summary

Official Symbol
THprovided by HGNC
Official Full Name
tyrosine hydroxylaseprovided by HGNC
Primary source
HGNC:HGNC:11782
See related
Ensembl:ENSG00000180176 MIM:191290
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
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Genomic context

Location:
11p15.5
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (2163929..2174081, complement)
105.20201022 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 repeat instability region Neighboring gene insulin Neighboring gene microRNA 4686 Neighboring gene achaete-scute family bHLH transcription factor 2 Neighboring gene chromosome 11 open reading frame 21 Neighboring gene tetraspanin 32

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
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
GeneReviews: Not available
Autosomal recessive DOPA responsive dystonia Compare labs
Genome-wide association scan for variants associated with early-onset prostate cancer.
GeneReviews: Not available
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
GeneReviews: Not available
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
GeneReviews: Not available

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

Homology

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
PubMed 
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 catecholamine biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in cellular response to alkaloid IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to drug 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 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
PubMed 
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
PubMed 
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 multicellular organism aging IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotransmitter biosynthetic process IEA
Inferred from Electronic Annotation
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
PubMed 
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
PubMed 
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 water deprivation IEA
Inferred from Electronic Annotation
more info
 
involved_in response to zinc ion IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound 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
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in perikaryon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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
    P07101
    UniProtKB/TrEMBL
    P78428
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    2163929..2174081 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520335.2XP_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
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