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Aliases for TPH1 Gene

Aliases for TPH1 Gene

  • Tryptophan Hydroxylase 1 2 3
  • Tryptophan Hydroxylase (Tryptophan 5-Monooxygenase) 2 3
  • Tryptophan 5-Monooxygenase 1 3 4
  • EC 4 63
  • TPRH 3 4
  • TRPH 3 4
  • TPH 4 6
  • Indoleacetic Acid-5-Hydroxylase 3
  • Tryptophan 5-Monooxygenase 2
  • Tryptophan 5-Hydroxylase 1 3
  • L-Tryptophan Hydroxylase 3
  • EC 1.14.16 63

External Ids for TPH1 Gene

Previous HGNC Symbols for TPH1 Gene

  • TPRH
  • TPH

Previous GeneCards Identifiers for TPH1 Gene

  • GC11M018984
  • GC11M018081
  • GC11M018006
  • GC11M018005
  • GC11M017997
  • GC11M017724

Summaries for TPH1 Gene

Entrez Gene Summary for TPH1 Gene

  • This gene encodes a member of the aromatic amino acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others.[provided by RefSeq, Apr 2009]

GeneCards Summary for TPH1 Gene

TPH1 (Tryptophan Hydroxylase 1) is a Protein Coding gene. Diseases associated with TPH1 include perry syndrome and early myoclonic encephalopathy. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include iron ion binding and tryptophan 5-monooxygenase activity. An important paralog of this gene is TH.

Tocris Summary for TPH1 Gene

  • Hydroxylases are enzymes that catalyze the addition of -OH (hydroxyl) groups to their substrate during oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C., which is involved in serotonin synthesis; steroid 11-beta hydroxylase (also known as CYP11B1) (E.C., which is involved in glucocorticoid synthesis; and LTB4 omega-hydroxylase (also known as CYP4F3) (E.C., which is involved in arachidonic acid metabolism.

Gene Wiki entry for TPH1 Gene

No data available for UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPH1 Gene

Genomics for TPH1 Gene

Regulatory Elements for TPH1 Gene

Transcription factor binding sites by QIAGEN in the TPH1 gene promoter:

Genomic Location for TPH1 Gene

18,017,564 bp from pter
18,042,426 bp from pter
24,863 bases
Minus strand

Genomic View for TPH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPH1 Gene

Proteins for TPH1 Gene

  • Protein details for TPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tryptophan 5-hydroxylase 1
    Protein Accession:
    Secondary Accessions:
    • D3DQX6
    • O95188
    • O95189
    • Q16736
    • Q3KPG8

    Protein attributes for TPH1 Gene

    444 amino acids
    Molecular mass:
    50985 Da
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for TPH1 Gene

    Alternative splice isoforms for TPH1 Gene


neXtProt entry for TPH1 Gene

Proteomics data for TPH1 Gene at MOPED

Post-translational modifications for TPH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TPH1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for TPH1 (Tryptophan Hydroxylase 1/TPH-1)
  • Cell Signaling Technology (CST) Antibodies for TPH1 (TPH1)

Domains for TPH1 Gene

Gene Families for TPH1 Gene

Graphical View of Domain Structure for InterPro Entry



  • P17752
  • Contains 1 ACT domain.
  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
genes like me logo Genes that share domains with TPH1: view

Function for TPH1 Gene

Molecular function for TPH1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
L-tryptophan + tetrahydrobiopterin + O(2) = 5-hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin

Enzyme Numbers (IUBMB) for TPH1 Gene

Gene Ontology (GO) - Molecular Function for TPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004510 tryptophan 5-monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0016597 amino acid binding IEA --
GO:0016714 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen --
genes like me logo Genes that share ontologies with TPH1: view
genes like me logo Genes that share phenotypes with TPH1: view

Animal Models for TPH1 Gene

MGI Knock Outs for TPH1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TPH1

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for TPH1 Gene

Localization for TPH1 Gene

Subcellular locations from

Jensen Localization Image for TPH1 Gene COMPARTMENTS Subcellular localization image for TPH1 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
extracellular 2
nucleus 2

Gene Ontology (GO) - Cellular Components for TPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with TPH1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TPH1 Gene

Pathways for TPH1 Gene

genes like me logo Genes that share pathways with TPH1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P17752-TPH1_HUMAN

  • Pathway: Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2

Gene Ontology (GO) - Biological Process for TPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007623 circadian rhythm IEA --
GO:0008152 metabolic process --
GO:0009072 aromatic amino acid family metabolic process IEA --
GO:0030279 negative regulation of ossification IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
genes like me logo Genes that share ontologies with TPH1: view

Compounds for TPH1 Gene

(3) Tocris Compounds for TPH1 Gene

Compound Action Cas Number
IOX 2 Potent, selective HIF-1alpha prolyl hydroxylase-2 (PHD2) inhibitor [931398-72-0]
Metyrapone 11-beta hydroxylase inhibitor [54-36-4]
Ro 61-8048 Potent kynurenine 3-hydroxylase inhibitor [199666-03-0]

(1) ApexBio Compounds for TPH1 Gene

Compound Action Cas Number
LX1606 Tryptophan hydroxylase (TPH) inhibitor [1137608-69-5]

(9) HMDB Compounds for TPH1 Gene

Compound Synonyms Cas Number PubMed IDs
  • 2-amino-6-(1,2-dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4aH)-one
  • (+-)-5-Hydroxytryptophan
  • (S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone
  • Armco iron
  • (-)-tryptophan

(3) Drugbank Compounds for TPH1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
  • (-)-Tryptophan
73-22-3 enzyme substrate
  • 5,6,7,8 Tetrahydrobiopterin
17528-72-2 target cofactor

(4) IUPHAR Ligand for TPH1 Gene

Ligand Type Action Affinity Pubmed IDs
fenfluramine Inhibitor Inhibition
6-fluorotryptophan Inhibitor Inhibition
PCPA Inhibitor Inhibition
alpha-propyldopacetamide Inhibitor Inhibition

(74) Novoseek inferred chemical compound relationships for TPH1 Gene

Compound -log(P) Hits PubMed IDs
alpha-monofluoromethyldopa 78.7 1
5-hydroxytryptophan 77.5 17
tetrahydrobiopterin 77.3 16
maoa 76.1 14
tetrahydropterin 71.5 1

(5) PharmGKB related drug/compound annotations for TPH1 Gene

Drug/compound Annotation
antidepressants CA
citalopram CA
fluoxetine CA
lithium CA
paroxetine CA
genes like me logo Genes that share compounds with TPH1: view

Transcripts for TPH1 Gene

mRNA/cDNA for TPH1 Gene

Unigene Clusters for TPH1 Gene

Tryptophan hydroxylase 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TPH1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TPH1 Gene

No ASD Table

Relevant External Links for TPH1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TPH1 Gene

mRNA expression in normal human tissues for TPH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TPH1 Gene

This gene is overexpressed in Artery - Aorta (14.1).

Protein differential expression in normal tissues for TPH1 Gene

This gene is overexpressed in Brain (34.1), Spleen (18.7), and Liver (13.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TPH1 Gene

SOURCE GeneReport for Unigene cluster for TPH1 Gene Hs.591999

mRNA Expression by UniProt/SwissProt for TPH1 Gene

Tissue specificity: Isoform 2 seems to be less widely expressed than isoform 1
genes like me logo Genes that share expressions with TPH1: view

Expression partners for TPH1 Gene

In Situ Assay Products

Orthologs for TPH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TPH1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TPH1 35
  • 93.24 (n)
  • 96.4 (a)
TPH1 36
  • 96 (a)
(Canis familiaris)
Mammalia TPH1 35
  • 93.84 (n)
  • 97.75 (a)
TPH1 36
  • 98 (a)
(Mus musculus)
Mammalia Tph1 35
  • 85.81 (n)
  • 90.09 (a)
Tph1 16
Tph1 36
  • 89 (a)
(Pan troglodytes)
Mammalia TPH1 35
  • 99.85 (n)
  • 99.55 (a)
TPH1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Tph1 35
  • 86.71 (n)
  • 91.22 (a)
(Monodelphis domestica)
Mammalia TPH1 36
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia TPH1 36
  • 85 (a)
(Gallus gallus)
Aves TPH1 35
  • 80.2 (n)
  • 86.62 (a)
TPH1 36
  • 86 (a)
(Anolis carolinensis)
Reptilia TPH1 36
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497239 35
  • 73.74 (n)
  • 81.49 (a)
African clawed frog
(Xenopus laevis)
Amphibia tph1 35
(Danio rerio)
Actinopterygii tph 35
tph1a 35
  • 70.46 (n)
  • 80.33 (a)
tph1a 36
  • 72 (a)
tph1b 36
  • 70 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006020 35
  • 59.13 (n)
  • 65.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta Trh 35
  • 58.51 (n)
  • 61.39 (a)
Trh 36
  • 46 (a)
(Caenorhabditis elegans)
Secernentea tph-1 36
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
Species with no ortholog for TPH1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TPH1 Gene

Gene Tree for TPH1 (if available)
Gene Tree for TPH1 (if available)

Paralogs for TPH1 Gene

Paralogs for TPH1 Gene

genes like me logo Genes that share paralogs with TPH1: view

Variants for TPH1 Gene

Sequence variations from dbSNP and Humsavar for TPH1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs169806 -- 18,037,745(+) AAATA(C/T)GGTCT intron-variant
rs172423 -- 18,034,678(+) AAATA(C/T)TGTGG intron-variant
rs211100 -- 18,021,589(+) TAACT(A/C)TACCT intron-variant
rs211101 -- 18,022,757(+) GATCT(C/T)TCCCT intron-variant
rs211102 -- 18,024,946(+) CATCA(A/G)CTAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TPH1 Gene

Variant ID Type Subtype PubMed ID
nsv897026 CNV Gain 21882294
nsv832079 CNV Loss 17160897

Relevant External Links for TPH1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPH1 Gene

Disorders for TPH1 Gene

(40) Novoseek inferred disease relationships for TPH1 Gene

Disease -log(P) Hits PubMed IDs
hyperphenylalaninemia 66.1 2
apeced 63.8 6
mood disorders 63.6 21
bipolar disorder 62.3 17
major depression 60 15

Relevant External Links for TPH1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with TPH1: view

No data available for OMIM , UniProtKB/Swiss-Prot and Genatlas for TPH1 Gene

Publications for TPH1 Gene

  1. Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. (PMID: 12379098) Wang L. … Stevens R.C. (Biochemistry 2002) 3 4 23 26
  2. Alternative splicing at the 3'-cDNA of human tryptophan hydroxylase. (PMID: 9751214) Wang G.A. … Kaufman S. (J. Neurochem. 1998) 3 4 23
  3. No association between tryptophan hydroxylase gene polymorphism and Alzheimer's disease. (PMID: 11150890) Wang Y.C. … Hong C.J. (Neuropsychobiology 2001) 3 23 48
  4. Polymorphisms of tryptophan hydroxylase gene and the symptomatology of schizophrenia: an association study. (PMID: 11324941) Shinkai T. … Nakamura J. (Psychiatr. Genet. 2000) 3 23 48
  5. Suicide attempts and the tryptophan hydroxylase gene. (PMID: 11326294) Abbar M. … Buresi C. (Mol. Psychiatry 2001) 3 23 48

Products for TPH1 Gene

Sources for TPH1 Gene

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