TPH1 (tryptophan hydroxylase 1)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7166
Gene name Gene Name - the full gene name approved by the HGNC.
Tryptophan hydroxylase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TPH1
Synonyms (NCBI Gene) Gene synonyms aliases
TPRH, TRPH
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
ASCL1 Repression 19744316
NFYB Activation 9645961
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(22)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
191060 12008 ENSG00000129167
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Show/Hide Text Mining Associations (47)
Associations from Text Mining Disease 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