TPH1 tryptophan hydroxylase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TPH1provided by HGNC
Official Full Name: tryptophan hydroxylase 1provided by HGNC
Primary source: HGNC:HGNC:12008
See related: Ensembl:ENSG00000129167 MIM:191060; AllianceGenome:HGNC:12008
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TPRH; TRPH
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 associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others.[provided by RefSeq, Apr 2009]
Expression: Biased expression in stomach (RPKM 7.1), colon (RPKM 5.4) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (18017555..18046269, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (18115170..18143890, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (18039102..18067816, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A microbially produced AhR ligand promotes a Tph1-driven tolerogenic program in multiple sclerosis.
Title: A microbially produced AhR ligand promotes a Tph1-driven tolerogenic program in multiple sclerosis.
Tryptophan hydroxylase 1 drives glioma progression by modulating the serotonin/L1CAM/NF-kappaB signaling pathway.
Title: Tryptophan hydroxylase 1 drives glioma progression by modulating the serotonin/L1CAM/NF-κB signaling pathway.
TPH1 gene polymorphism rs211105 is associated with serotonin and tryptophan hydroxylase 1 concentrations in acute pancreatitis patients.
Title: TPH1 gene polymorphism rs211105 is associated with serotonin and tryptophan hydroxylase 1 concentrations in acute pancreatitis patients.
Association study of single nucleotide polymorphism in tryptophan hydroxylase 1 gene with adolescent idiopathic scoliosis: A meta-analysis.
Title: Association study of single nucleotide polymorphism in tryptophan hydroxylase 1 gene with adolescent idiopathic scoliosis: A meta-analysis.
Association of TPH1 and serotonin transporter genotypes with treatment response for suicidal ideation: a preliminary study.
Title: Association of TPH1 and serotonin transporter genotypes with treatment response for suicidal ideation: a preliminary study.
the T/C polymorphism at the 1325th site in the TPH1 gene coding sequence altered TPH1 activity, suggesting that this polymorphism is consistent with the reproductive rhythm of mammals.
Title: An Ancient Mutation in the TPH1 Gene is Consistent with the Changes in Mammalian Reproductive Rhythm.
Genetic variants in TPH1 (rs591556) were associated with sensation seeking and impulsivity, while genetic variants in TPH2 (rs17110451) were associated with the fraction of drinkers in family.
Title: Genetic, Psychological, and Personal Network Factors Associated With Changes in Binge Drinking Over 2 Years Among Mexican Heritage Adolescents in the USA.
The T/T homozygote of c.-1668T>A tryptophan hydroxylase 1 (TPH1), the G/T heterozygote and T allele of c.-844G>T-TPH2, and the C/C homozygote and C allele of c.-1449C>A tryptophan hydroxylase 2 (TPH2) decreased the risk of development of depressive disorders.
Title: Association between single nucleotide polymorphisms of TPH1 and TPH2 genes, and depressive disorders.
Overexpression of tryptophan hydroxylase-1 (TPH-1), an enzyme involved in 5-methoxytryptophan synthesis, reduces renal injury by attenuating renal inflammation and fibrosis, whereas TPH-1 deficiency exacerbates renal injury and fibrosis by activating NF-kappaB and inhibiting Nrf2 pathways.
Title: Identification of serum metabolites associating with chronic kidney disease progression and anti-fibrotic effect of 5-methoxytryptophan.
These findings indicate that TPH1, TPH2, and SLC6A4 variants moderate the subjective effects of cocaine in non-treatment-seeking cocaine-dependent participants.
Title: Genetic moderation of cocaine subjective effects by variation in the TPH1, TPH2, and SLC6A4 serotonin genes.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480779

GDB:197867 (e-PCR)
- UniSTS:155980

TPH (e-PCR)
- UniSTS:76664

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tryptophan 5-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in aromatic amino acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in bone remodeling	IEA Inferred from Electronic Annotation more info
involved_in circadian rhythm	IEA Inferred from Electronic Annotation more info
involved_in mammary gland alveolus development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ossification	IEA Inferred from Electronic Annotation more info
involved_in platelet degranulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of hemostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to immobilization stress	IEA Inferred from Electronic Annotation more info
involved_in serotonin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in serotonin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tryptophan 5-hydroxylase 1

Names: L-tryptophan hydroxylase; indoleacetic acid-5-hydroxylase; tryptophan 5-monooxygenase 1; tryptophan hydroxylase (tryptophan 5-monooxygenase)

NP_004170.1

EC 1.14.16.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.