Version: 8.0.0
Date: Tue Jan 28 2025
TPH1
Homo sapiensHGNC:12008
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

TPH1

Species
Homo sapiens
Symbol
TPH1
Name
tryptophan hydroxylase 1
Synonyms
  • indoleacetic acid-5-hydroxylase
  • L-tryptophan hydroxylase
Biotype
protein coding gene
Automated Description
Predicted to enable tryptophan 5-monooxygenase activity. Predicted to be involved in platelet degranulation; regulation of hemostasis; and serotonin biosynthetic process. Predicted to act upstream of or within bone remodeling; mammary gland alveolus development; and positive regulation of fat cell differentiation. Predicted to be located in cytosol. Predicted to be active in neuron projection. Implicated in several diseases, including alcohol use disorder; attention deficit hyperactivity disorder; borderline personality disorder; depressive disorder (multiple); and nicotine dependence.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11473
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
          Viewer Help
          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          TPH1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            TPH1 role
            TPH1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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