Tph1 tryptophan hydroxylase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tph1provided by MGI
Official Full Name: tryptophan hydroxylase 1provided by MGI
Primary source: MGI:MGI:98796
See related: Ensembl:ENSMUSG00000040046 AllianceGenome:MGI:98796
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tph
Summary: This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase family. The encoded protein is one of two tryptophan hydroxylase enzymes that catalyze the first and rate limiting step in the biosynthesis of the hormone and neurotransmitter, serotonin. This gene is expressed in peripheral organs, while tryptophan hydroxylase 2 is expressed in neurons. The encoded protein is involved in the development of hypoxia-induced elevations in pulmonary pressures and pulmonary vascular remodeling, and has also been implicated as a regulator of immune tolerance. Disruption of this gene is associated with cardiac dysfunction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
Expression: Biased expression in colon adult (RPKM 1.2), duodenum adult (RPKM 0.5) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 30.43 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (46294065..46321961, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (46644641..46672537, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

D-methionine improves cisplatin-induced anorexia and dyspepsia syndrome by attenuating intestinal tryptophan hydroxylase 1 activity and increasing plasma leptin concentration.
Title: D-methionine improves cisplatin-induced anorexia and dyspepsia syndrome by attenuating intestinal tryptophan hydroxylase 1 activity and increasing plasma leptin concentration.
Protein acetylation derepresses Serotonin Synthesis to potentiate Pancreatic Beta-Cell Function through HDAC1-PKA-Tph1 signaling.
Title: Protein acetylation derepresses Serotonin Synthesis to potentiate Pancreatic Beta-Cell Function through HDAC1-PKA-Tph1 signaling.
Investigating the complex interplay between genotype and high-fat-diet feeding in the lactating mammary gland using the Tph1 and Ldlr knockout models.
Title: Investigating the complex interplay between genotype and high-fat-diet feeding in the lactating mammary gland using the Tph1 and Ldlr knockout models.
Interleukin-33 Induces the Enzyme Tryptophan Hydroxylase 1 to Promote Inflammatory Group 2 Innate Lymphoid Cell-Mediated Immunity.
Title: Interleukin-33 Induces the Enzyme Tryptophan Hydroxylase 1 to Promote Inflammatory Group 2 Innate Lymphoid Cell-Mediated Immunity.
Mast cell Tph1 promotes obesity and insulin resistance.
Title: Genetic deletion of mast cell serotonin synthesis prevents the development of obesity and insulin resistance.
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.
Both gut-specific Tph1 knockout mice and liver-specific Htr2a knockout mice are resistant to high fat diet-induced hepatic steatosis, without affecting systemic energy homeostasis.
Title: Serotonin signals through a gut-liver axis to regulate hepatic steatosis.
Data suggest that central melanocortin-4 receptor (MC4-R) and tryptophan hydroxylase (TPH) are involved in the efferent neuronal control of the kidneys.
Title: Delineation of the central melanocortin circuitry controlling the kidneys by a virally mediated transsynaptic tracing study in transgenic mouse model.
Prolactin-induced Tph1 expression.
Title: Expression mechanism of tryptophan hydroxylase 1 in mouse islets during pregnancy.
Tph1-deficient mice fed a high-fat diet (HFD) are protected from obesity, insulin resistance and nonalcoholic fatty liver disease (NAFLD) while exhibiting greater energy expenditure by brown adipose tissue.
Title: Inhibiting peripheral serotonin synthesis reduces obesity and metabolic dysfunction by promoting brown adipose tissue thermogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (9) 1 citation
Targeted (7) 1 citation

General gene information

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Markers

PMC263847P1 (e-PCR)
- UniSTS:272331

Tph1 (e-PCR), detects polymorphism
- UniSTS:516848

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables tryptophan 5-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tryptophan 5-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables tryptophan 5-monooxygenase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in aromatic amino acid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within bone remodeling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in circadian rhythm	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mammary gland alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ossification	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ossification	ISO Inferred from Sequence Orthology more info
involved_in platelet degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of hemostasis	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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: tryptophan 5-monooxygenase 1

NP_001129556.1

EC 1.14.16.4

NP_001263301.1

EC 1.14.16.4

NP_033440.1

EC 1.14.16.4

XP_011249148.1

EC 1.14.16.4

XP_036008805.1

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.

mRNA and Protein(s)

NM_001136084.2 → NP_001129556.1 tryptophan 5-hydroxylase 1 isoform 1

See identical proteins and their annotated locations for NP_001129556.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC090122, AF273257, BC072582, BM932391

Consensus CDS

CCDS21280.1

UniProtKB/Swiss-Prot

P17532

UniProtKB/TrEMBL

Q3UK52

Related

ENSMUSP00000103296.3, ENSMUST00000107669.9

Conserved Domains (1) summary

TIGR01270
Location:3 → 441

Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric
NM_001276372.1 → NP_001263301.1 tryptophan 5-hydroxylase 1 isoform 2

See identical proteins and their annotated locations for NP_001263301.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AF273257, AK157858, BC038864

Consensus CDS

CCDS71970.1

UniProtKB/TrEMBL

Q3TZH2

Related

ENSMUSP00000128107.2, ENSMUST00000168335.3

Conserved Domains (2) summary

cl01244
Location:109 → 145

arom_aa_hydroxylase; Biopterin-dependent aromatic amino acid hydroxylase; a family of non-heme, iron(II)-dependent enzymes that includes prokaryotic and eukaryotic phenylalanine-4-hydroxylase (PheOH), eukaryotic tyrosine hydroxylase (TyrOH) and eukaryotic tryptophan ...

cl09141
Location:22 → 94

ACT; ACT domains are commonly involved in specifically binding an amino acid or other small ligand leading to regulation of the enzyme
NM_009414.3 → NP_033440.1 tryptophan 5-hydroxylase 1 isoform 1

See identical proteins and their annotated locations for NP_033440.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC090122, BC072582, BM932391

Consensus CDS

CCDS21280.1

UniProtKB/Swiss-Prot

P17532

UniProtKB/TrEMBL

Q3UK52

Related

ENSMUSP00000037752.8, ENSMUST00000049298.15

Conserved Domains (1) summary

TIGR01270
Location:3 → 441

Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

46294065..46321961 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036152912.1 → XP_036008805.1 tryptophan 5-hydroxylase 1 isoform X1

UniProtKB/Swiss-Prot

P17532

UniProtKB/TrEMBL

Q3UK52

Conserved Domains (1) summary

TIGR01270
Location:3 → 441

Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric
XM_011250846.3 → XP_011249148.1 tryptophan 5-hydroxylase 1 isoform X2

Conserved Domains (1) summary

pfam00351
Location:5 → 334

Biopterin_H; Biopterin-dependent aromatic amino acid hydroxylase