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Aliases for TPH1 Gene

Aliases for TPH1 Gene

  • Tryptophan Hydroxylase 1 2 3 5
  • Tryptophan Hydroxylase (Tryptophan 5-Monooxygenase) 2 3
  • Tryptophan 5-Monooxygenase 1 3 4
  • EC 1.14.16.4 4 63
  • TPRH 3 4
  • TRPH 3 4
  • Indoleacetic Acid-5-Hydroxylase 3
  • Tryptophan 5-Monooxygenase 2
  • L-Tryptophan Hydroxylase 3
  • EC 1.14.16 63
  • TPH 4

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 Autoimmune Polyendocrine Syndrome Type 1 and Personality Disorder. Among its related pathways are Tryptophan metabolism and serotonin and melatonin biosynthesis. GO annotations related to this gene include iron ion binding and 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. An important paralog of this gene is TH.

Tocris Summary for TPH1 Gene

  • Hydroxylases are enzymes that catalyze the addition of hydroxyl groups to substrates during oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C. 1.14.16.4), steroid 11-beta hydroxylase (E.C. 1.14.15.4), and LTB4 omega-hydroxylase (E.C. 1.14.13.30).

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

Enhancers for TPH1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TPH1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for TPH1 Gene

Chromosome:
11
Start:
18,017,564 bp from pter
End:
18,042,426 bp from pter
Size:
24,863 bases
Orientation:
Minus strand

Genomic View for TPH1 Gene

Genes around TPH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P17752-TPH1_HUMAN
    Recommended name:
    Tryptophan 5-hydroxylase 1
    Protein Accession:
    P17752
    Secondary Accessions:
    • D3DQX6
    • O95188
    • O95189
    • Q16736
    • Q3KPG8

    Protein attributes for TPH1 Gene

    Size:
    444 amino acids
    Molecular mass:
    50985 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

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:
REFSEQ proteins:

Antibody Products

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

Domains & Families for TPH1 Gene

Gene Families for TPH1 Gene

Graphical View of Domain Structure for InterPro Entry

P17752

UniProtKB/Swiss-Prot:

TPH1_HUMAN :
  • Contains 1 ACT domain.
  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
Domain:
  • Contains 1 ACT domain.
Family:
  • 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

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

Animal Models for TPH1 Gene

MGI Knock Outs for TPH1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TPH1

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TPH1 Gene

Localization for TPH1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TPH1 Gene COMPARTMENTS Subcellular localization image for TPH1 gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 2
cytoskeleton 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TPH1 Gene

Pathways & Interactions for TPH1 Gene

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

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:0034641 cellular nitrogen compound metabolic process TAS --
GO:0042427 serotonin biosynthetic process IEA --
GO:0046219 indolalkylamine biosynthetic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with TPH1: view

No data available for SIGNOR curated interactions for TPH1 Gene

Drugs & Compounds for TPH1 Gene

(58) Drugs for TPH1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrahydrobiopterin Approved, Investigational Pharma cofactor, Target 0
L-Tryptophan Approved Nutra Positive, Allosteric regulator, Enzyme, substrate 0
Citalopram Approved Pharma 497
Fluoxetine Approved Pharma Channel blocker 228
Lithium Approved Pharma 0

(36) Additional Compounds for TPH1 Gene - From: Novoseek, HMDB, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
p-Chlorophenylalanine
7424-00-2
alpha-propyldopacetamide
Inhibition, Inhibitor
PCPA
Inhibition, Inhibitor

(5) Tocris Compounds for TPH1 Gene

Compound Action Cas Number
17-ODYA LTB omega-hydroxylase inhibitor 34450-18-5
DMOG Prolyl hydroxylase inhibitor 89464-63-1
Metyrapone 11-beta hydroxylase inhibitor 54-36-4
p-Chlorophenylalanine Tryptophan hydroxylase inhibitor 7424-00-2
Ro 61-8048 Potent kynurenine 3-monooxygenase (KMO) inhibitor 199666-03-0

(1) ApexBio Compounds for TPH1 Gene

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

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

No ASD Table

Relevant External Links for TPH1 Gene

GeneLoc Exon Structure for
TPH1
ECgene alternative splicing isoforms for
TPH1

Expression for TPH1 Gene

mRNA expression in normal human tissues for TPH1 Gene

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

This gene is overexpressed in Artery - Aorta (x14.1).

Protein differential expression in normal tissues from HIPED for TPH1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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

P17752-TPH1_HUMAN
Tissue specificity: Isoform 2 seems to be less widely expressed than isoform 1.
genes like me logo Genes that share expression patterns with TPH1: view

Protein tissue co-expression partners for TPH1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TPH1 Gene

Orthologs for TPH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TPH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TPH1 35
  • 93.24 (n)
  • 96.4 (a)
TPH1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TPH1 35
  • 93.84 (n)
  • 97.75 (a)
TPH1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tph1 35
  • 85.81 (n)
  • 90.09 (a)
Tph1 16
Tph1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TPH1 35
  • 99.85 (n)
  • 99.55 (a)
TPH1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tph1 35
  • 86.71 (n)
  • 91.22 (a)
oppossum
(Monodelphis domestica)
Mammalia TPH1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPH1 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPH1 35
  • 80.2 (n)
  • 86.62 (a)
TPH1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TPH1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497239 35
  • 73.74 (n)
  • 81.49 (a)
African clawed frog
(Xenopus laevis)
Amphibia tph1 35
zebrafish
(Danio rerio)
Actinopterygii tph 35
tph1a 35
  • 70.46 (n)
  • 80.33 (a)
tph1a 36
  • 72 (a)
OneToMany
tph1b 36
  • 70 (a)
OneToMany
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)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tph-1 36
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
OneToMany
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

ENSEMBL:
Gene Tree for TPH1 (if available)
TreeFam:
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
rs591556 -- 18,039,853(+) aatta(C/T)gggtc intron-variant
rs593414 -- 18,040,306(+) TTTAC(A/G)ATCAT intron-variant
rs593839 -- 18,040,380(+) ATATA(G/T)AGAGA intron-variant
rs623580 -- 18,042,430(+) TCCTA(A/T)AGCGT upstream-variant-2KB
rs684302 -- 18,038,806(+) AAAAG(C/T)TGATG 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

Variation tolerance for TPH1 Gene

Residual Variation Intolerance Score: 44.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.68; 46.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPH1 Gene

Human Gene Mutation Database (HGMD)
TPH1

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

Disorders for TPH1 Gene

MalaCards: The human disease database

(39) MalaCards diseases for TPH1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autoimmune polyendocrine syndrome type 1
  • autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
personality disorder
  • character disorder
perry syndrome
  • parkinsonism with alveolar hypoventilation and mental depression
borderline personality disorder
bipolar disorder
  • major affective disorder 1
- elite association - COSMIC cancer census association via MalaCards
Search TPH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TPH1

Genetic Association Database (GAD)
TPH1
Human Genome Epidemiology (HuGE) Navigator
TPH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPH1
genes like me logo Genes that share disorders with TPH1: view

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

Publications for TPH1 Gene

  1. Association study of tryptophan hydroxylase 1 and arylalkylamine N-acetyltransferase polymorphisms with adolescent idiopathic scoliosis in Han Chinese. (PMID: 18794762) Wang H. … Qiu G. (Spine 2008) 3 23 48 67
  2. Developmental role of tryptophan hydroxylase in the nervous system. (PMID: 17519505) Nakamura K. … Hasegawa H. (Mol. Neurobiol. 2007) 23 25 26
  3. 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 23 26
  4. The tryptophan hydroxylase 1 (TPH1) gene, schizophrenia susceptibility, and suicidal behavior: a multi-centre case-control study and meta-analysis. (PMID: 19526457) Saetre P. … JAPnsson E.G. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 23
  5. Experimentally calibrated computational chemistry of tryptophan hydroxylase: trans influence, hydrogen-bonding, and 18-electron rule govern O2-activation. (PMID: 19939457) Haahr L.T. … Christensen H.E. (J. Inorg. Biochem. 2010) 3 23

Products for TPH1 Gene

Sources for TPH1 Gene

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