TPH1 (tryptophan hydroxylase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7166
Gene name Tryptophan hydroxylase 1
Gene symbol TPH1
Synonyms (NCBI Gene)
TPRHTRPH
Chromosome 11
Chromosome location 11p15.1
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 associat
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1449297 hsa-miR-320a CLIP-seq
MIRT1449298 hsa-miR-320b CLIP-seq
MIRT1449299 hsa-miR-320c CLIP-seq
MIRT1449300 hsa-miR-320d CLIP-seq
MIRT1449301 hsa-miR-3613-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Transcription factor Regulation Reference
ASCL1 Repression 19744316
NFYB Activation 9645961
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0002576 Process Platelet degranulation IEA
GO:0002576 Process Platelet degranulation ISS
GO:0004497 Function Monooxygenase activity IEA
GO:0004510 Function Tryptophan 5-monooxygenase activity IBA
GO:0004510 Function Tryptophan 5-monooxygenase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
191060 12008 ENSG00000129167
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17752
Protein name Tryptophan 5-hydroxylase 1 (EC 1.14.16.4) (Tryptophan 5-monooxygenase 1)
Protein function Oxidizes L-tryptophan to 5-hydroxy-l-tryptophan in the rate-determining step of serotonin biosynthesis.
PDB 1MLW , 3HF6 , 3HF8 , 3HFB , 5J6D , 5L01 , 5TPG , 7ZIF , 7ZIG , 7ZIH , 7ZII , 7ZIJ , 7ZIK , 8CJI , 8CJJ , 8CJK , 8CJL , 8CJM , 8CJN , 8CJO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00351 Biopterin_H 106 → 436 Biopterin-dependent aromatic amino acid hydroxylase Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 2]: Seems to be less widely expressed than isoform 1. {ECO:0000269|PubMed:9751214}.
Sequence
Sequence length 444
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Tryptophan metabolism
Folate biosynthesis
Metabolic pathways
Serotonergic synapse 		  Serotonin and melatonin biosynthesis
NGF-stimulated transcription
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TPH1-related disorder Benign rs1799913, rs145842425 RCV003984623
RCV003903872
Show/Hide Text Mining Associations (47)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Antisocial Personality Disorder Associate 22781862
Anxiety Associate 15544576
Anxiety Disorders Associate 15544576
Attention Deficit Disorder with Hyperactivity Associate 22562805
Autistic Disorder Associate 17203304
Borderline Personality Disorder Associate 18506706, 21989108
Breast Neoplasms Associate 19903352, 22444239
Carcinoid Tumor Associate 17717663
Cardiomyopathy Hypertrophic Stimulate 36657118
Colitis Lymphocytic Stimulate 29382152