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

    Gene ID: 21990, updated on 9-Dec-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See Tph1 in Genome Data Viewer
    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_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E4927 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 STARR-seq mESC enhancer starr_18863 Neighboring gene STARR-seq mESC enhancer starr_18865 Neighboring gene STARR-seq mESC enhancer starr_18866 Neighboring gene STARR-seq mESC enhancer starr_18867 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

    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
     
    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

    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)

    NEW Try the new Transcript table

    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
      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
      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: 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

    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

      UniProtKB/Swiss-Prot
      P17532
      UniProtKB/TrEMBL
      Q3UK52
      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