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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TPH1 Gene

protein-coding   GIFtS: 67
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 intestinal neuroendocrine tumor, and autoimmune polyendocrine syndrome, and among its related super-pathways are Amine-derived hormones and Tryptophan metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TPH1 gene promoter:
         TBP   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P17752

  • 4/25 DME Specific Peptides for TPH1 (P17752) (see all 25)
     EFGLCKQ  IGLASLG  PQLEDVS  LYPTHAC 

    TPH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TPH1 Protein Expression
    REFSEQ proteins: NP_004170.1  
    ENSEMBL proteins: 
     ENSP00000250018   ENSP00000403831   ENSP00000436081   ENSP00000343550  
    Reactome Protein details: P17752
    Human Recombinant Protein Products for TPH1: 
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    OriGene MassSpec for TPH1 
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    Novus Biologicals TPH1 Proteins
    Novus Biologicals TPH1 Lysates
    Sino Biological Recombinant Protein for TPH1
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TPH1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    TPH1 for ontologies           About GeneDecksing



    TPH1 Antibody Products: 
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    Novus Biologicals TPH1 Antibodies
    Abcam antibodies for TPH1
    Cloud-Clone Corp. Antibodies for TPH1 
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    LSBio Antibodies in human, mouse, rat for TPH1 

    Assay Products for TPH1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for TPH1
    Browse Enzo Life Sciences for kits & assays
    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)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: L-Tryptophan hydroxylase 1 
    Amino acid hydroxylases

    5/6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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  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 - Custom generated mouse model solutions for TPH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: TPH1 (NM_004179)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TPH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPH1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPH1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TPH1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of thyroid hormone activity
    Amine-derived hormones0.43
    Serotonin and melatonin biosynthesis0.36
    serotonin and melatonin biosynthesis0.36
    Biogenic Amine Synthesis0.32
    2Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4tryptophan utilization II
    tryptophan utilization II0.70
    tryptophan utilization I0.70
    5Monoamine GPCRs
    Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for TPH1
        Neuroscience

    5/6 BioSystems Pathways for TPH1 (see all 6)
        Biogenic Amine Synthesis
    SIDS Susceptibility Pathways
    serotonin and melatonin biosynthesis
    Tryptophan metabolism
    tryptophan utilization II


    4        Reactome Pathways for TPH1
        Amine-derived hormones
    Serotonin and melatonin biosynthesis
    Metabolism
    Metabolism of amino acids and derivatives

    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TPH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for TPH1 (P177523 ENSP000002500184) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

    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
    DDCENSP000003506164STRING: ENSP00000350616
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TPH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--
    α-propyldopacetamide
    InhibitorInhibition--

    10/74 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  

    Search CenterWatch for drugs/clinical trials and news about TPH1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    miRNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TPH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TPH1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TPH1
      QIAGEN 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 

    24/177 AceView cDNA sequences (see all 177):

    AW770701 AI570539 BE502932 BQ059321 AI588851 BM451912 CB133049 AI733159 
    AW589305 AI824319 Z41788 BC000707 AJ243951 CR596582 AW026847 BQ056935 
    AI914248 BM725728 BQ718633 BP382405 N47569 AI880317 BG756369 BP346952 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TPH1 expression in normal human tissues (normalized intensities)      TPH1 embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Epithalamus
             Midbrain dopaminergic-like neurons ( Generation of midbrain dopaminergic, forebrain...
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             sigmoid colon mucosa   
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Stem Cell line 5
     
     Oral Cavity (Gastrointestinal Tract)
             saliva   
     
     Neuron (Nervous System)
             Midbrain dopaminergic-like neurons ( Generation of midbrain dopaminergic, forebrain...

    See TPH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TPH1

    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

        SABiosciences Expression via Pathway-Focused PCR Array including TPH1: 
              Neurotoxicity in human mouse rat

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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TPH1 gene from 7/15 species (see all 15)    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_001136084.11  NP_001129556.11 
     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 57.35(n)
    60.43(a)
      38121  NM_138236.1  NP_612080.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tph-11 Protein TPH-1 58.54(n)
    54.31(a)
      174227  NM_063183.3  NP_495584.4 


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/440 SNPs in TPH1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    OMIM gene information: 191060    OMIM disorders: --

    20/78 diseases for TPH1 (see all 78):    About MalaCards
    intestinal neuroendocrine tumor    autoimmune polyendocrine syndrome    perry syndrome    autoimmune polyendocrine syndrome type 1
    generalized anxiety disorder    early myoclonic encephalopathy    sepiapterin reductase deficiency    mitral valve disease
    mast cell neoplasm    bipolar disorder    anxiety disorder    childhood-onset schizophrenia
    seasonal affective disorder    intestinal disease    major depressive disorder    borderline personality disorder
    dentatorubral-pallidoluysian atrophy    xeroderma pigmentosum, group a    mood disorder    west syndrome

    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

    10/40 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)
    About This Section

    PubMed articles for TPH1 gene, integrated from 9 sources (see all 497):
    (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. (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. (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. (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. (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. (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. (2004)
    7. Genetic variations in tryptophan hydroxylase in suicidal behavior: analysis and meta-analysis. (PubMed id 12915291)1, 4, 9 Rujescu D....Moller H.J. (2003)
    8. The tryptophan hydroxylase 1 (TPH1) gene, schizophren ia susceptibility, and suicidal behavior: a multi-centre case-control study and meta-analysis. (PubMed id 19526457)1, 4, 9 Saetre P....JAPnsson E.G. (2010)
    9. Increased risk of suicide attempt in mood disorders and TPH1 genotype. (PubMed id 18977032)1, 4, 9 Galfalvy H....Mann J.J. (2008)
    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. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 7166 HGNC: 12008 AceView: TPH1andDELGEF Ensembl:ENSG00000129167 euGenes: HUgn7166
    ECgene: TPH1 Kegg: 7166 H-InvDB: TPH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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