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TH tyrosine hydroxylase [ Homo sapiens (human) ]

Gene ID: 7054, updated on 8-Dec-2018

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

Genomic context

Location:
11p15.5
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (2163929..2174081, 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 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
aminergic neurotransmitter loading into synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
animal organ morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
catecholamine biosynthetic process TAS
Traceable Author Statement
more info
 
cellular response to alkaloid 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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 organism 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 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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
 
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
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

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)

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
    ENSP00000325951.3, ENST00000352909.7
    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_199292.2NP_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
    ENSP00000370571.1, 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_199293.2NP_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
    ENSP00000370567.1, 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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 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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