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TPH1 Gene

protein-coding   GIFtS: 66
GCID: GC11M018040

Tryptophan Hydroxylase 1

(Previous name: tryptophan hydroxylase (tryptophan 5-monooxygenase))
(Previous symbols: TPRH, TPH)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tryptophan Hydroxylase 11 2     EC 1.14.16.43 8
TPRH1 2 3     Tryptophan 5-Monooxygenase1
TPH1 3 5     Indoleacetic Acid-5-Hydroxylase2
Tryptophan Hydroxylase (Tryptophan 5-Monooxygenase)1 2     L-Tryptophan Hydroxylase2
Tryptophan 5-Monooxygenase 12 3     Tryptophan 5-Hydroxylase 12
TRPH2 3     EC 1.14.168

External Ids:    HGNC: 120081   Entrez Gene: 71662   Ensembl: ENSG000001291677   OMIM: 1910605   UniProtKB: P177523   

Export aliases for TPH1 gene to outside databases

Previous GC identifers: GC11M018984 GC11M018081 GC11M018006 GC11M018005 GC11M017997 GC11M017724


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TPH1 Gene:
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)

GeneCards Summary for TPH1 Gene:
TPH1 (tryptophan hydroxylase 1) is a protein-coding gene. Diseases associated with TPH1 include perry syndrome, and autoimmune polyendocrine syndrome type 1. GO annotations related to this gene include tryptophan 5-monooxygenase activity and iron ion binding. An important paralog of this gene is TPH2.

summary for TPH1 Gene:
Hydroxylases are enzymes that catalyze the addition of -OH (hydroxyl) groups to their substrate during
oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C. 1.14.16.4), which
is involved in serotonin synthesis; steroid 11-beta hydroxylase (also known as CYP11B1) (E.C. 1.14.15.4),
which is involved in glucocorticoid synthesis; and LTB4 omega-hydroxylase (also known as CYP4F3) (E.C.
1.14.13.30), which is involved in arachidonic acid metabolism.

Gene Wiki entry for TPH1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the TPH1 gene promoter:
         TBP   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTPH1 promoter sequence
   Search Chromatin IP Primers for TPH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TPH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.3-p14   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15.3-p14

TPH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPH1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M018040:  view genomic region     (about GC identifiers)

Start:
18,039,111 bp from pter      End:
18,063,973 bp from pter
Size:
24,863 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TPH1_HUMAN, P17752 (See protein sequence)
Recommended Name: Tryptophan 5-hydroxylase 1  
Size: 444 amino acids; 50985 Da
Cofactor: Fe(2+) ion
Subunit: Homotetramer (By similarity)
5 PDB 3D structures from and Proteopedia for TPH1:
1IN9 (3D)        1MLW (3D)        3HF6 (3D)        3HF8 (3D)        3HFB (3D)    
Secondary accessions: D3DQX6 O95188 O95189 Q16736 Q3KPG8
Alternative splicing: 2 isoforms:  P17752-1   P17752-2   

Explore the universe of human proteins at neXtProt for TPH1: NX_P17752

Explore proteomics data for TPH1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TPH1 (P17752) (see all 25)
     EFGLCKQ  IGLASLG  PQLEDVS  LYPTHAC 


    See TPH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004170.1  
    ENSEMBL proteins: 
     ENSP00000250018   ENSP00000403831   ENSP00000436081   ENSP00000343550  
    Reactome Protein details: P17752

    TPH1 Human Recombinant Protein Products:

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    Novus Biologicals TPH1 Lysates
    Sino Biological Recombinant Protein for TPH1
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TPH1

    TPH1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TPH1
    R&D Systems Antibodies for TPH1 (Tryptophan Hydroxylase 1/TPH-1)
    Cell Signaling Technology (CST) Antibodies for TPH1 
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    LSBio Antibodies in human, mouse, rat for TPH1

    TPH1 Assay Products:

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    Cloud-Clone Corp. ELISAs for TPH1
    Cloud-Clone Corp. CLIAs for TPH1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: L-Tryptophan hydroxylase 1
    Amino acid hydroxylases

    Selected InterPro protein domains (see all 6):
     IPR002912 ACT_dom
     IPR019774 Aromatic-AA_hydroxylase_C
     IPR005963 Trp_5_mOase
     IPR019773 Tyrosine_3-monooxygenase-like
     IPR001273 ArAA_hydroxylase

    Graphical View of Domain Structure for InterPro Entry P17752

    ProtoNet protein and cluster: P17752

    2 Blocks protein domains:
    IPB001273 Aromatic amino acid hydroxylase
    IPB002912 Amino acid-binding ACT


    UniProtKB/Swiss-Prot: TPH1_HUMAN, P17752
    Similarity: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family
    Similarity: Contains 1 ACT domain


    TPH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPH1_HUMAN, P17752
    Catalytic activity: L-tryptophan + tetrahydrobiopterin + O(2) = 5-hydroxy-L-tryptophan +
    4a-hydroxytetrahydrobiopterin

         Enzyme Numbers (IUBMB): EC 1.14.16.41 2 EC 1.14.162

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004510tryptophan 5-monooxygenase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0016597amino acid binding IEA--
    GO:0016714oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen ----
         
    TPH1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TPH1:
     Synthetic lethal with Ras 

         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tph1):
     adipose tissue  behavior/neurological  cardiovascular system  growth/size/body  homeostasis/metabolism 
     integument  muscle  respiratory system  skeleton 

    TPH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TPH1: Tph1tm1Lex Tph1tm1Bdr

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TPH1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TPH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TPH1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TPH1

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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TPH1

    Gene Editing
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    Sino Biological Human cDNA Clone for TPH1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    extracellular2
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0043005neuron projection IEA--

    TPH1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TPH1 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3serotonin and melatonin biosynthesis
    serotonin and melatonin biosynthesis
    Serotonin and melatonin biosynthesis0.00
    4tryptophan utilization II
    tryptophan utilization II0.71
    tryptophan utilization I0.71
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Amine-derived hormones0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for TPH1
        Neuroscience

    Selected BioSystems Pathways for TPH1 (see all 6)
        Biogenic Amine Synthesis
    SIDS Susceptibility Pathways
    serotonin and melatonin biosynthesis
    Tryptophan metabolism
    tryptophan utilization II


    1 Reactome Pathway for TPH1
        Serotonin and melatonin biosynthesis

    1 PharmGKB Pathway for TPH1
        Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics

    3 Kegg Pathways  (Kegg details for TPH1):
        Tryptophan metabolism
    Metabolic pathways
    Serotonergic synapse

    UniProtKB/Swiss-Prot: TPH1_HUMAN, P17752
    Pathway: Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2


    TPH1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including TPH1: 

              Neurotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TPH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for TPH1 (P177523 ENSP000002500184) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    YWHAHQ049173, ENSP000002489754I2D: score=1 STRING: ENSP00000248975
    YWHAZP631043, ENSP000003095034I2D: score=2 STRING: ENSP00000309503
    IDO1ENSP000002535134STRING: ENSP00000253513
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007623circadian rhythm IEA--
    GO:0008152metabolic process ----
    GO:0009072aromatic amino acid family metabolic process IEA--
    GO:0030279negative regulation of ossification IEA--
    GO:0034641cellular nitrogen compound metabolic process TAS--

    TPH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for TPH1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Metyrapone11-beta hydroxylase inhibitor[54-36-4]
    DMOGProlylhydroxylase inhibitor[89464-63-1]
    Ro 61-8048Potent kynurenine 3-hydroxylase inhibitor[199666-03-0]

    9 HMDB Compounds for TPH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dihydrobiopterin(S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone (see all 15)6779-87-912379098
    Tetrahydrobiopterin(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)17528-72-211517215
    4a-Hydroxytetrahydrobiopterin2-amino-6-(1,2-dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4aH)-one (see all 7)70110-58-6--
    5-Hydroxy-L-tryptophan(+-)-5-Hydroxytryptophan (see all 21)4350-09-8--
    IronArmco iron (see all 19)7439-89-6--
    L-Tryptophan(-)-tryptophan (see all 53)73-22-3--
    OxygenOxygen (see all 5)7782-44-7--
    Sapropterin(6R)-5,6,7,8-Tetrahydro-L-biopterin (see all 11)62989-33-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    3 DrugBank Compounds for TPH1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Tryptophan(-)-Tryptophan (see all 14)73-22-3enzymesubstrate16897368 17519505 17492791 16953590 17376153
    Tetrahydrobiopterin5,6,7,8 Tetrahydrobiopterin (see all 3)17528-72-2targetcofactor15223360 10381000 2665179 12414107 11472242
    7,8-Dihydro-L-Biopterin-- --target--17139284 17016423

    4 IUPHAR Ligands for TPH1 (L-Tryptophan hydroxylase 1)    About this table
    LigandTypeActionAffinityPubmed IDs
    fenfluramine
    InhibitorInhibition--
    6-fluorotryptophan
    InhibitorInhibition6457252
    PCPA
    InhibitorInhibition--
    alpha-propyldopacetamide
    InhibitorInhibition--

    Selected Novoseek inferred chemical compound relationships for TPH1 gene (see all 74)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-monofluoromethyldopa 78.7 1 1974858 (1)
    5-hydroxytryptophan 77.5 28 11386854 (2), 9892800 (1), 16023217 (1), 11958527 (1) (see all 16)
    tetrahydrobiopterin 77.3 18 9084419 (5), 11472242 (2), 10525150 (1), 12414107 (1) (see all 11)
    maoa 76.1 20 16200390 (2), 12502014 (2), 15052272 (2), 15670397 (1) (see all 11)
    tetrahydropterin 71.5 1 19281164 (1)
    phenylalanine 68.9 34 10321973 (2), 9228951 (1), 10525150 (1), 12414107 (1) (see all 27)
    pterin 68.6 2 11747434 (2)
    sepiapterin 67.9 1 12414107 (1)
    l-amino acid 66.6 16 15012616 (2), 12373866 (1), 10575032 (1), 14764761 (1) (see all 10)
    5-hydroxyindoleacetic acid 64.5 19 7506517 (3), 17956909 (2), 9477008 (1), 11150890 (1) (see all 6)

    5 PharmGKB related drug/compound annotations for TPH1 gene    About this table
    Drug/compound PharmGKB Annotation
    antidepressantsCA  
    citalopramCA  
    fluoxetineCA  
    lithiumCA  
    paroxetineCA  



    TPH1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TPH1 gene: 
    NM_004179.2  

    Unigene Cluster for TPH1:

    Tryptophan hydroxylase 1
    Hs.591999  [show with all ESTs]
    Unigene Representative Sequence: NM_004179
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000250018(uc001mnp.2 uc009yhe.2) ENST00000417164 ENST00000525406
    ENST00000528338 ENST00000341556

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      QuantiTect SYBR Green Assays in human, mouse, rat TPH1
      QuantiFast Probe-based Assays in human, mouse, rat TPH1

    Additional mRNA sequence: 

    AY196346.1 BC106739.1 BC106740.2 X52836.1 

    5 DOTS entries:

    DT.75187391  DT.120695679  DT.65287122  DT.100789255  DT.91697052 

    Selected AceView cDNA sequences (see all 177):

    X52836 BQ056935 BC000707 AW026847 AI880317 F08752 BM725728 CR596582 
    AI570539 AI588851 AI733159 BP346952 Z41788 CB133049 AI824319 BG756369 
    AW589305 AJ243951 AI216588 N47569 AW770701 BM451912 BP382405 AI356576 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TPH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTCGATGT
    TPH1 Expression
    About this image


    TPH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Epithalamus
             Midbrain dopaminergic-like neurons
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Stem Cell line 5
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Lung (Respiratory System)
             Alveolar type II cells
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    TPH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TPH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591999

    UniProtKB/Swiss-Prot: TPH1_HUMAN, P17752
    Tissue specificity: Isoform 2 seems to be less widely expressed than isoform 1

        Pathway & Disease-focused RT2 Profiler PCR Array including TPH1: 
              Neurotoxicity in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPH1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TPH1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tph11 , 5 tryptophan hydroxylase 11, 5 85.81(n)1
    90.09(a)1
      7 (30.43 cM)5
    219901  NM_009414.31  NP_033440.11 
     466471305 
    chicken
    (Gallus gallus)
    Aves TPH11 tryptophan hydroxylase 1 80.2(n)
    86.62(a)
      395799  NM_204956.1  NP_990287.1 
    lizard
    (Anolis carolinensis)
    Reptilia TPH16
    tryptophan hydroxylase 1
    75(a)
    1 ↔ 1
    1(67635627-67657531)
    African clawed frog
    (Xenopus laevis)
    Amphibia tph12 tryptophan hydroxylase 1 76.64(n)    L20679.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tph2 tryptophan hydroxylase (tryptophan 5-monooxygenase 76(n)   352943  AF548566.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Trh1 Tryptophan hydroxylase 58.51(n)
    61.39(a)
      38121  NM_138236.1  NP_612080.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tph-16
    Protein TPH-1, isoform a (tph-1) mRNA, complete cd...
    41(a)
    1 → many
    II(7549335-7551977) WBGene00006600


    ENSEMBL Gene Tree for TPH1 (if available)
    TreeFam Gene Tree for TPH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TPH1 gene
    TPH22  PAH2  TH2  
    3 SIMAP similar genes for TPH1 using alignment to 14 protein entries:     TPH1_HUMAN (see all proteins):
    TPH2    TH    PAH

    TPH1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TPH1 (see all 440)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs32163101,2
    C--17734498(-) TTAAAT/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs575747181,2
    C--17736807(+) TTTTT-/T/TT  
            
    TTTTT
    1 -- int11NA 2
    rs2001567091,2
    C--17739680(+) TCTCTC/TTCCTT 1 -- int10--------
    rs1497221661,2
    C--17741614(+) TTCTC-/AAAAAA 1 -- int10--------
    rs757275381,2
    C--17742418(+) TAGAT-/AATTAC 1 -- int10--------
    rs6852471,2
    C,A--17743296(+) AAAAAC/TTAACG 1 -- int10--------
    rs1996045651,2
    --17743296(+) AAAAA-/CTAACG 1 -- int10--------
    rs6852491,2
    C,F,H--17743297(+) AAAACT/GAACGA 1 -- int15Minor allele frequency- G:0.27EA NS NA 256
    rs1923660171,2
    --17965818(+) CCAGTA/GTCGTG 1 -- ds50010--------
    rs11337581,2
    C,F,H--17965838(-) GTTTTC/TTTTCA 1 -- ds50014Minor allele frequency- T:0.01MN NS NA 538

    HapMap Linkage Disequilibrium report for TPH1 (18039111 - 18063973 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TPH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832079CNV Loss17160897
    nsv897026CNV Gain21882294

    Human Gene Mutation Database (HGMD): TPH1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TPH1
    DNA2.0 Custom Variant and Variant Library Synthesis for TPH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 191060    OMIM disorders: --

    Selected diseases for TPH1 (see all 76):    
    About MalaCards
    perry syndrome    autoimmune polyendocrine syndrome type 1    early myoclonic encephalopathy    intestinal neuroendocrine tumor
    autoimmune polyendocrine syndrome    sepiapterin reductase deficiency    mitral valve disease    childhood-onset schizophrenia
    seasonal affective disorder    somatoform disorder    anxiety disorder    bipolar disorder
    dentatorubral-pallidoluysian atrophy    mast cell neoplasm    borderline personality disorder    mood disorder
    generalized anxiety disorder    substance dependence    major depressive disorder    intestinal disease

    7 diseases from the University of Copenhagen DISEASES database for TPH1:
    Mast cell neoplasm     Schizophrenia     Irritable bowel syndrome     Borderline personality disorder
    Sudden infant death syndrome     Anxiety disorder     Autoimmune polyendocrine syndrome

    TPH1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for TPH1 gene (see all 40)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperphenylalaninemia 66.1 2 2109147 (2)
    apeced 63.8 10 10946908 (2), 14764761 (1), 18088406 (1), 18274776 (1) (see all 5)
    mood disorders 63.6 26 11578639 (3), 11992558 (3), 18977032 (2), 11274651 (2) (see all 14)
    bipolar disorder 62.3 24 11472792 (2), 19032713 (2), 9435758 (2), 10716208 (1) (see all 14)
    major depression 60 18 16165107 (2), 19590397 (2), 11426508 (1), 16596624 (1) (see all 13)
    psychiatric disorder 53.5 22 16467214 (2), 17972101 (1), 16023677 (1), 10673768 (1) (see all 13)
    mastocytoma 52.8 7 2110547 (3), 14559114 (1), 10421874 (1), 12354109 (1)
    schizophrenia 47.4 47 17870198 (4), 16741719 (3), 19526457 (2), 10899755 (2) (see all 16)
    phenylketonurias 44.2 3 17305546 (1), 1974311 (1), 17513427 (1)
    carcinoid 42.9 22 9840098 (4), 7575647 (3), 10953292 (3), 7876115 (2) (see all 8)

    Genetic Association Database (GAD): TPH1
    Human Genome Epidemiology (HuGE) Navigator: TPH1 (158 documents)

    Export disorders for TPH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TPH1 gene, integrated from 10 sources (see all 500):
    (articles sorted by number of sources associating them with TPH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. (PubMed id 12379098)1, 2, 6, 9 Wang L.... Stevens R.C. (Biochemistry 2002)
    2. Association study of tryptophan hydroxylase 1 and arylalkylamine N-acetyltransferase polymorphisms with adolescent idiopathic scoliosis in Han Chinese. (PubMed id 18794762)1, 4, 9 Wang H....Qiu G. (Spine 2008)
    3. The TPH intron 7 A218C polymorphism and TCI dimension scores in alcohol-dependent patients: hints to nonspecific psychopathology. (PubMed id 15925123)1, 4, 9 Anghelescu I....Szegedi A. (Addict Behav 2005)
    4. The tryptophan hydroxylase 1 (TPH1) gene and risk of schizophrenia: a moderate-scale case-control study and meta-analysis. (PubMed id 17870198)1, 4, 9 Watanabe Y....Someya T. (Neurosci. Res. 2007)
    5. Association of TPH1 with suicidal behaviour and psychiatric disorders in the Chinese population. (PubMed id 16467214)1, 4, 9 Liu X....He L. (J. Med. Genet. 2006)
    6. Further evidence of a combined effect of SERTPR and TPH on SSRIs response in mood disorders. (PubMed id 15274037)1, 4, 9 Serretti A....Zanardi R. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004)
    7. Genetic variations in tryptophan hydroxylase in suicidal behavior: analysis and meta-analysis. (PubMed id 12915291)1, 4, 9 Rujescu D....MAPller H.J. (Biol. Psychiatry 2003)
    8. The tryptophan hydroxylase 1 (TPH1) gene, schizophrenia susceptibility, and suicidal behavior: a multi-centre case-control study and meta-analysis. (PubMed id 19526457)1, 4, 9 Saetre P....JAPnsson E.G. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    9. Increased risk of suicide attempt in mood disorders and TPH1 genotype. (PubMed id 18977032)1, 4, 9 Galfalvy H....Mann J.J. (J Affect Disord 2009)
    10. The tryptophan hydroxylase-1 A218C polymorphism is associated with diagnosis, but not suicidal behavior, in borderline personality disorder. (PubMed id 18506706)1, 4, 9 Wilson S.T....Mann J.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7166 HGNC: 12008 AceView: TPH1andDELGEF Ensembl:ENSG00000129167 euGenes: HUgn7166
    ECgene: TPH1 Kegg: 7166 H-InvDB: TPH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TPH1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TPH1 gene:
    Search GeneIP for patents involving TPH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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