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.
6
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.
2
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
22
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (18)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BORDERLINE PERSONALITY DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (123)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 18794762, 21308753, 21691901
★★★★★
★☆☆☆☆
Found in Text Mining only
Antisocial Personality Disorder Antisocial personality disorder Pubtator 22781862 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 15544576, 15729745
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 15544576 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 11204346, 15544576, 15729745
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety disorder Pubtator 15544576 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29567680
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 29567680
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 22562805 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 11496362, 16389593, 20213726, 21906006
★★★★★
★☆☆☆☆
Found in Text Mining only