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

Gene ID: 21990, updated on 28-Jun-2021

Summary

Official Symbol
Tph1provided by MGI
Official Full Name
tryptophan hydroxylase 1provided by MGI
Primary source
MGI:MGI:98796
See related
Ensembl:ENSMUSG00000040046
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
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Genomic context

See Tph1 in Genome Data Viewer
Location:
7 B3; 7 30.43 cM
Exon count:
12
Annotation release Status Assembly Chr Location
109 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)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (53902501..53927907, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene potassium voltage gated channel, Shaw-related subfamily, member 1 Neighboring gene secretion regulating guanine nucleotide exchange factor Neighboring gene predicted gene, 22969 Neighboring gene serum amyloid A-like 1 Neighboring gene serum amyloid A 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by MGI

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
PubMed 
located_in neuron projection ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
tryptophan 5-hydroxylase 1
Names
tryptophan 5-monooxygenase 1
NP_001129556.1
NP_001263301.1
NP_033440.1
XP_011249148.1
XP_036008805.1

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)

  1. NM_001136084.2NP_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, Q9JHZ8
    Related
    ENSMUSP00000103296.3, ENSMUST00000107669.9
    Conserved Domains (1) summary
    TIGR01270
    Location:3441
    Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric
  2. NM_001276372.1NP_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, Q9JHZ8
    Related
    ENSMUSP00000128107.2, ENSMUST00000168335.3
    Conserved Domains (2) summary
    cl01244
    Location:109145
    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:2294
    ACT; ACT domains are commonly involved in specifically binding an amino acid or other small ligand leading to regulation of the enzyme
  3. NM_009414.3NP_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:3441
    Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    46294065..46321961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    TIGR01270
    Location:3441
    Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric
  2. XM_011250846.3XP_011249148.1  tryptophan 5-hydroxylase 1 isoform X2

    Conserved Domains (1) summary
    pfam00351
    Location:5334
    Biopterin_H; Biopterin-dependent aromatic amino acid hydroxylase
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