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.
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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.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence |
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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.
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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 |
Mental depression with psychotic features |
Severe major depression with psychotic features |
|
23512949, 23221997 |
Mood disorder |
Mood Disorders |
|
21989108, 19381154, 21601290, 18977032, 22649797 |
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