TPH1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TPH1 |
| Official Name | tryptophan hydroxylase 1 [Source:HGNC Symbol;Acc:HGNC:12008] |
| Ensembl ID | ENSG00000129167 |
| Bio databases IDs | |
| Aliases | tryptophan hydroxylase 1, tryptophan 5-monooxygenase |
| Synonyms | TPH, TPRH, TRPH, tryptophan 5-monooxygenase, tryptophan hydroxylase 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TPH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- arom_aa_hydroxylase
- tryptophan 5-monooxygenase, tetrameric
- tyrosine 3-monooxygenase, tetrameric
- phenylalanine-4-hydroxylase, tetrameric form
- enzyme
- protein binding
- tryptophan 5-monooxygenase
- ACT domain
- Biopterin-dependent aromatic amino acid hydroxylase
Pathways
Biological processes and signaling networks where the TPH1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- autism
- major depression
- thromboembolism
- phenylketonuria
- portal hypertension
- heart failure
- colorectal cancer
- organismal death
- tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
role in cell
- adhesion
- expression in
- quantity
- phagocytosis by
- proliferation
- production in
- expansion
- differentiation
- extravasation
- cell rolling
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- neurites
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TPH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- platelet degranulation
- serotonin biosynthetic process
- bone remodeling
- aromatic amino acid family metabolic process
- mammary gland alveolus development
- positive regulation of fat cell differentiation
- regulation of hemostasis
- response to immobilization stress
- circadian rhythm
- negative regulation of ossification
Cellular Component
Where in the cell the gene product is active
- cytosol
- neuron projection
Molecular Function
What the gene product does at the molecular level
- protein binding
- iron ion binding
- tryptophan 5-monooxygenase activity