Description: Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA. RefSeq Summary (NM_004179): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Transcript (Including UTRs) Position: hg19 chr11:18,042,084-18,062,335 Size: 20,252 Total Exon Count: 10 Strand: - Coding Region Position: hg19 chr11:18,042,538-18,062,309 Size: 19,772 Coding Exon Count: 10
aggressive behavior Hennig, J. et al. 2005, Two types of aggression are differentially related to serotonergic activity and the A779C TPH polymorphism., Behavioral neuroscience. 2005 Feb;119(1):16-25.
[PubMed 15727508]
Finally, an association study with 58 volunteers revealed that the A779C TPH polymorphism significantly relates to AH, with the highest aggression levels for the genotype AA and the lowest aggression levels for the genotype CC, but not to NH. Results are discussed with respect to inconsistent findings in the literature, which may be explained by this distinction of types of aggression.
alcohol abuse Sun, H. S. et al. 2005, A Functional Polymorphism in the Promoter Region of the Tryptophan Hydroxylase Gene Is Associated With Alcohol Dependence in One Aboriginal Group in Taiwan, Alcoholism, clinical and experimental research. 2005 Jan;29(1):7-Jan.
[PubMed 15654285]
Polymorphisms in the promoter region may influence the function of the TPH1 gene and further influence the proclivity of alcohol dependence in one ethnic group in Taiwan. The associations between TPH1 genotypes and alcoholism may deserve further investigation.
alcoholism , Tryptophan hydroxylase polymorphism is associated with age of onset of alcoholism related behaviors, Alcohol (Fayetteville, NY). 2005 May;36(1):3-Jan.
[PubMed 16257348]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P17752
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004497 monooxygenase activity GO:0004510 tryptophan 5-monooxygenase activity GO:0005506 iron ion binding GO:0016491 oxidoreductase activity 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 GO:0046872 metal ion binding
Biological Process: GO:0007623 circadian rhythm GO:0009072 aromatic amino acid family metabolic process GO:0030279 negative regulation of ossification GO:0035902 response to immobilization stress GO:0042427 serotonin biosynthetic process GO:0045600 positive regulation of fat cell differentiation GO:0046849 bone remodeling GO:0055114 oxidation-reduction process GO:0060749 mammary gland alveolus development
US Server
