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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
  • TPRH 3 4
  • TRPH 3 4
  • Indoleacetic Acid-5-Hydroxylase 3
  • Tryptophan 5-Hydroxylase 1 3
  • Tryptophan 5-Monooxygenase 2
  • L-Tryptophan Hydroxylase 3
  • EC 1.14.16.4 4
  • 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 Personality Disorder and Borderline Personality Disorder. Among its related pathways are Biogenic Amine Synthesis and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (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 TPH2.

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

Additional gene information for TPH1 Gene

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

Genomics for TPH1 Gene

GeneHancer (GH) Regulatory Elements for TPH1 Gene

Promoters and enhancers for TPH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J018046 Promoter/Enhancer 1 EPDnew Ensembl 650.7 -4.0 -3998 0.6 FOSL1 ZFHX2 ZNF48 EZH2 TPH1 SAAL1 SERGEF GC11P018029 GC11M018063
GH11J018105 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.8 -63.4 -63436 1.7 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B SAAL1 HIGD1AP5 GTF2H1 SPTY2D1 ENSG00000256361 TSG101 MRGPRX3 ENSG00000256588 LOC100129966 TPH1
GH11J018143 Enhancer 0.4 ENCODE 4.5 -101.9 -101864 1.4 CTCF JUND MRGPRX3 TPH1 LOC645297 GC11P018120 ENSG00000255470
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TPH1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for TPH1 Gene

Genomic Locations for TPH1 Gene
chr11:18,017,564-18,042,426
(GRCh38/hg38)
Size:
24,863 bases
Orientation:
Minus strand
chr11:18,039,111-18,063,973
(GRCh37/hg19)
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

Post-translational modifications for TPH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TPH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TPH1 Gene

Domains & Families for TPH1 Gene

Gene Families for TPH1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P17752

UniProtKB/Swiss-Prot:

TPH1_HUMAN :
  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
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

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:0016491 oxidoreductase activity 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 IEA --
GO:0046872 metal ion binding IEA --
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

  • Taconic Biosciences Mouse Models for TPH1

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TPH1 Gene

Localization for TPH1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TPH1 gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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 & 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:0009072 aromatic amino acid family metabolic process IEA --
GO:0030279 negative regulation of ossification IEA --
GO:0035902 response to immobilization stress IEA --
GO:0042427 serotonin biosynthetic 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fenfluramine Approved, Illicit, Investigational, Withdrawn Pharma Inhibition, Inhibitor, antagonist 12
L-Tryptophan Approved, Withdrawn Nutra Positive, Allosteric regulator, Inhibition, Inhibitor, Enzyme, substrate 0
Sapropterin Approved, Investigational Pharma Target, cofactor 0
Metyrapone Approved, Investigational Pharma 11-beta hydroxylase inhibitor 13
Citalopram Approved Pharma 526

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
alpha-propyldopacetamide
Inhibition, Inhibitor
PCPA
Inhibition, Inhibitor
4a-Carbinolamine tetrahydrobiopterin
  • 6,7-Dihydrobiopterin
  • Quinoid-dihydrobiopterin
  • (6R)-6-(L-erythro-1,2-Dihydroxypropyl)-7,8-dihydro-6H-pterin
  • 1,3,5-Benzenetriol
  • 1,3,5-Trihydroxybenzene
79647-29-3
4a-hydroxytetrahydrobiopterin
  • (6R)-6-(L-erythro-1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterin
  • 4a-Hydroxy-5,6,4,8-tetrahydrobiopterin
  • 2-amino-6-(1,2-Dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4ah)-one
  • 2-amino-6-(1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxy-4(4ah)-pteridinone
  • 2-amino-6-[(1R,2S)-1,2-Dihydroxypropyl]-4a-hydroxy-1,5,6,7-tetrahydropteridin-4-one
70110-58-6

(4) 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
genes like me logo Genes that share compounds with TPH1: view

Transcripts for TPH1 Gene

mRNA/cDNA for TPH1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(177) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TPH1 Gene

Tryptophan hydroxylase 1:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for TPH1 Gene



Protein tissue co-expression partners for TPH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TPH1 Gene:

TPH1

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.

Evidence on tissue expression from TISSUES for TPH1 Gene

  • Nervous system(4.8)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with TPH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TPH1 34 33
  • 99.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TPH1 34 33
  • 93.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TPH1 34 33
  • 93.24 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tph1 33
  • 86.71 (n)
mouse
(Mus musculus)
Mammalia Tph1 16 34 33
  • 85.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TPH1 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TPH1 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPH1 34 33
  • 80.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TPH1 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497239 33
  • 73.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia tph1 33
zebrafish
(Danio rerio)
Actinopterygii tph1a 34 33
  • 70.46 (n)
OneToMany
tph1b 34
  • 70 (a)
OneToMany
tph 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006020 33
  • 59.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta Trh 34 33
  • 58.51 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tph-1 34
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 63 (a)
OneToMany
Species where no ortholog for TPH1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TPH1: view image

Paralogs for TPH1 Gene

Paralogs for TPH1 Gene

(3) SIMAP similar genes for TPH1 Gene using alignment to 14 proteins:

  • TPH1_HUMAN
  • B3VRW5_HUMAN
  • B3VRX0_HUMAN
  • B3VRX5_HUMAN
  • B3VRY0_HUMAN
  • B3VRY5_HUMAN
  • B3VRZ0_HUMAN
  • B3VRZ5_HUMAN
  • B3VS00_HUMAN
  • B3VS05_HUMAN
  • B3VS10_HUMAN
  • E7EMX4_HUMAN
  • E9PR49_HUMAN
  • Q08EN2_HUMAN
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 Variation AA Info Type
rs1000195487 -- 18,030,829(-) T/A intron_variant
rs1000253647 -- 18,037,639(-) AAAAAAAAA/AAAAAAAA/AAAAAAAAAA intron_variant
rs1000311751 -- 18,021,930(-) A/G intron_variant
rs1000373197 -- 18,029,724(-) T/C intron_variant
rs1000744191 -- 18,032,827(-) C/G/T intron_variant

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

Variant ID Type Subtype PubMed ID
esv3625482 CNV loss 21293372
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)

Additional Variant Information for TPH1 Gene

Human Gene Mutation Database (HGMD)
TPH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPH1

SNP Genotyping and Copy Number Assay Products

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

Disorders for TPH1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
personality disorder
  • character disorder
borderline personality disorder
anxiety
  • anxiety disorder
perry syndrome
  • parkinsonism with alveolar hypoventilation and mental depression
somatoform disorder
  • physiological malfunction arising from mental factor
- elite association - COSMIC cancer census association via MalaCards
Search TPH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TPH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. (PMID: 12379098) Wang L … Stevens RC (Biochemistry 2002) 3 4 22 25 58
  2. Fluoxetine response in impulsive-aggressive behavior and serotonin transporter polymorphism in personality disorder. (PMID: 20010449) Silva H … Bustamante ML (Psychiatric genetics 2010) 3 22 44 58
  3. The tryptophan hydroxylase 1 (TPH1) gene, schizophrenia susceptibility, and suicidal behavior: a multi-centre case-control study and meta-analysis. (PMID: 19526457) Saetre P … Jönsson EG (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 22 44 58
  4. Resequencing of serotonin-related genes and association of tagging SNPs to citalopram response. (PMID: 19077664) Peters EJ … Hamilton SP (Pharmacogenetics and genomics 2009) 3 22 44 58
  5. Increased risk of suicide attempt in mood disorders and TPH1 genotype. (PMID: 18977032) Galfalvy H … Mann JJ (Journal of affective disorders 2009) 3 22 44 58

Products for TPH1 Gene

Sources for TPH1 Gene

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