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TPH1 (tryptophan hydroxylase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7166
Gene nameGene Name - the full gene name approved by the HGNC.
Tryptophan hydroxylase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TPH1
SynonymsGene synonyms aliases
TPRH, TRPH
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.1
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
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 factor Regulation Reference
ASCL1 Repression 19744316
NFYB Activation 9645961
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004510 Function Tryptophan 5-monooxygenase activity IBA 21873635
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005829 Component Cytosol TAS
GO:0007623 Process Circadian rhythm IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
Sequence length 444
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Tryptophan metabolism
Folate biosynthesis
Metabolic pathways
Serotonergic synapse
  Serotonin and melatonin biosynthesis
NGF-stimulated transcription
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 18583979
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 15727488, 15799788, 16240163, 19032713, 21601290
Kidney neoplasm Kidney Neoplasm 28321044
Kidney cancer Malignant neoplasm of kidney 28321044
Mental depression Mental Depression, Depressive disorder, Major depression, single episode, Unipolar Depression, Major Depressive Disorder rs587778876, rs587778877 23063133, 24495952, 23157339, 19738481, 23512949, 24495952, 23063133, 19738481, 23157339, 23512949, 11597824, 20471034, 18977032, 22697203, 23597148, 24903772, 23221997, 23157339, 23221997, 22697203, 23597148, 23157339, 24903772

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