| Background: | 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. |
| UniProt Protein Function: | TPH1: an enzyme that is rate-limiting in the biosynthesis of serotonin. It catalyzes the biopterin dependent monooxygenation of tryptophan to 5-hydroxytryptophan (5HT), which is subsequently decarboxylated to form the neurotransmitter serotonin. Its expression is limited to a few specialized tissues: raphe neurons, pinealocytes, mast cells, mononuclear leukocytes, beta-cells of the islets of Langerhans, and intestinal and pancreatic enterochromaffin cells. Two alternatively spliced isoforms have been described. |
| UniProt Protein Details: | Protein type:Amino Acid Metabolism - tryptophan; EC 1.14.16.4; Oxidoreductase Chromosomal Location of Human Ortholog: 11p15.3-p14 Cellular Component: cytosol Biological Process: indolalkylamine biosynthetic process |
| NCBI Summary: | 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] |
| UniProt Code: | P17752 |
| NCBI GenInfo Identifier: | 116242823 |
| NCBI Gene ID: | 7166 |
| NCBI Accession: | P17752.4 |
| UniProt Secondary Accession: | P17752,O95188, O95189, Q16736, Q3KPG8, D3DQX6, |
| UniProt Related Accession: | P17752 |
| Molecular Weight: | 53,394 Da |
| NCBI Full Name: | Tryptophan 5-hydroxylase 1 |
| NCBI Synonym Full Names: | tryptophan hydroxylase 1 |
| NCBI Official Symbol: | TPH1 |
| NCBI Official Synonym Symbols: | TPRH; TRPH |
| NCBI Protein Information: | tryptophan 5-hydroxylase 1 |
| UniProt Protein Name: | Tryptophan 5-hydroxylase 1 |
| UniProt Synonym Protein Names: | Tryptophan 5-monooxygenase 1 |
| Protein Family: | Tryptophan 5-hydroxylase |
| UniProt Gene Name: | TPH1 |
| UniProt Entry Name: | TPH1_HUMAN |
