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    TPH1 tryptophan hydroxylase 1 [ Homo sapiens (human) ]

    Gene ID: 7166, updated on 12-Mar-2017
    Official Symbol
    TPH1provided by HGNC
    Official Full Name
    tryptophan hydroxylase 1provided by HGNC
    Primary source
    HGNC:HGNC:12008
    See related
    Ensembl:ENSG00000129167 MIM:191060; Vega:OTTHUMG00000166421
    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]
    Orthologs
    Location:
    11p15.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (18020537..18040788, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18042084..18062354, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily C member 1 Neighboring gene secretion regulating guanine nucleotide exchange factor Neighboring gene uncharacterized LOC107984317 Neighboring gene uncharacterized LOC107984318 Neighboring gene serum amyloid A like 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: SERGEF

    Homology

    Clone Names

    • MGC119994

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    amino acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    tryptophan 5-monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    aromatic amino acid family metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    bone remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    indolalkylamine biosynthetic process TAS
    Traceable Author Statement
    more info
     
    mammary gland alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    response to immobilization stress IEA
    Inferred from Electronic Annotation
    more info
     
    serotonin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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.

    Genomic

    1. NG_011947.1 RefSeqGene

      Range
      5001..25252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004179.2NP_004170.1  tryptophan 5-hydroxylase 1

      See identical proteins and their annotated locations for NP_004170.1

      Status: REVIEWED

      Source sequence(s)
      AC055860, BC106739, BM451912, BP423529
      Consensus CDS
      CCDS7829.1
      UniProtKB/Swiss-Prot
      P17752
      Related
      ENSP00000250018, OTTHUMP00000232851, ENST00000250018, OTTHUMT00000389696
      Conserved Domains (3) summary
      TIGR01270
      Location:3439
      Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric
      cd04929
      Location:1890
      ACT_TPH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tryptophan hydroxylases (TPH), both peripheral (TPH1) and neuronal (TPH2) enzymes
      pfam00351
      Location:106435
      Biopterin_H; Biopterin-dependent aromatic amino acid hydroxylase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      18020537..18040788 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      18041619..18061874 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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