Human Gene TPH1 (ENST00000682019.1_3) from GENCODE V47lift37
  Description: tryptophan hydroxylase 1 (from RefSeq NM_004179.3)
Gencode Transcript: ENST00000682019.1_3
Gencode Gene: ENSG00000129167.11_9
Transcript (Including UTRs)
   Position: hg19 chr11:18,039,102-18,067,816 Size: 28,715 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr11:18,042,538-18,062,309 Size: 19,772 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:18,039,102-18,067,816)mRNA (may differ from genome)Protein (444 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TPH1_HUMAN
DESCRIPTION: RecName: Full=Tryptophan 5-hydroxylase 1; EC=1.14.16.4; AltName: Full=Tryptophan 5-monooxygenase 1;
CATALYTIC ACTIVITY: L-tryptophan + tetrahydrobiopterin + O(2) = 5- hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin.
COFACTOR: Fe(2+) ion.
PATHWAY: Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2.
SUBUNIT: Homotetramer (By similarity).
TISSUE SPECIFICITY: Isoform 2 seems to be less widely expressed than isoform 1.
SIMILARITY: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
SIMILARITY: Contains 1 ACT domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TPH1
Diseases sorted by gene-association score: childhood-onset schizophrenia (17), personality disorder (17), autoimmune polyendocrine syndrome type 1 (16), small intestine neuroendocrine neoplasm (15), borderline personality disorder (14), bipolar disorder (13), perry syndrome (11), somatoform disorder (11), mast cell neoplasm (10), hyperphenylalaninemia (9), autoimmune polyendocrine syndrome (9), anxiety disorder (9), irritable bowel syndrome (9), mitral valve disease (8), generalized anxiety disorder (8), panic disorder (7), conduct disorder (7), early myoclonic encephalopathy (7), obsessive-compulsive disorder (6), major depressive disorder and accelerated response to antidepressant drug treatment (6), hypotropia (6), phenylketonuria (6), endogenous depression (6), mood disorder (6), sudden infant death syndrome (5), opiate dependence (5), brunner syndrome (5), schizophrenia (4), nicotine dependence, protection against (4), kleine-levin hibernation syndrome (4), mental depression (4), alcohol dependence (4), attention deficit-hyperactivity disorder (3), pulmonary hypertension (3), psychotic disorder (2), narcolepsy (1), west syndrome (1), parkinson disease, late-onset (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.0055-0.164 Picture PostScript Text
3' UTR -842.203436-0.245 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002912 - ACT_dom
IPR001273 - ArAA_hydroxylase
IPR018301 - ArAA_hydroxylase_Fe/CU_BS
IPR019774 - Aromatic-AA_hydroxylase_C
IPR005963 - Trp_5_mOase
IPR019773 - Tyrosine_3-monooxygenase-like

Pfam Domains:
PF00351 - Biopterin-dependent aromatic amino acid hydroxylase

SCOP Domains:
56534 - Aromatic aminoacid monoxygenases, catalytic and oligomerization domains
55021 - ACT-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1IN9 - Model 1MLW - X-ray MuPIT 3HF6 - X-ray 3HF8 - X-ray 3HFB - X-ray


ModBase Predicted Comparative 3D Structure on P17752
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004497 monooxygenase activity
GO:0004510 tryptophan 5-monooxygenase activity
GO:0005506 iron ion binding
GO:0016491 oxidoreductase activity
GO:0016714 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen
GO:0046872 metal ion binding

Biological Process:
GO:0007623 circadian rhythm
GO:0009072 aromatic amino acid family metabolic process
GO:0030279 negative regulation of ossification
GO:0035902 response to immobilization stress
GO:0042427 serotonin biosynthetic process
GO:0045600 positive regulation of fat cell differentiation
GO:0046849 bone remodeling
GO:0055114 oxidation-reduction process
GO:0060749 mammary gland alveolus development

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0043005 neuron projection


-  Descriptions from all associated GenBank mRNAs
  JD560540 - Sequence 541564 from Patent EP1572962.
JD560541 - Sequence 541565 from Patent EP1572962.
JD019011 - Sequence 35 from Patent EP1572962.
JD027918 - Sequence 8942 from Patent EP1572962.
JD035205 - Sequence 16229 from Patent EP1572962.
KJ892306 - Synthetic construct Homo sapiens clone ccsbBroadEn_01700 TPH1 gene, encodes complete protein.
BC106739 - Homo sapiens tryptophan hydroxylase 1, mRNA (cDNA clone MGC:119994 IMAGE:40016887), complete cds.
BC106740 - Homo sapiens tryptophan hydroxylase 1, mRNA (cDNA clone IMAGE:40016889), complete cds.
X52836 - Human mRNA for tryptophan hydroxylase (EC 1.14.16.4).
AB590778 - Synthetic construct DNA, clone: pFN21AE1909, Homo sapiens TPH1 gene for tryptophan hydroxylase 1, without stop codon, in Flexi system.
AH012638 - Homo sapiens tryptophan hydroxylase mRNAs, partial cds.
AY196346 - Homo sapiens tryptophan hydroxylase precursor RNA, partial cds.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6030 - serotonin and melatonin biosynthesis
PWY66-401 - superpathway of L-tryptophan utilization

Reactome (by CSHL, EBI, and GO)

Protein P17752 (Reactome details) participates in the following event(s):

R-HSA-209828 Tryptophan is hydroxylated
R-HSA-209931 Serotonin and melatonin biosynthesis
R-HSA-209776 Amine-derived hormones
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: D3DQX6, NM_004179, O95188, O95189, P17752, Q16736, Q3KPG8, TPH, TPH1_HUMAN, TPRH, TRPH, uc330jhm.1, uc330jhm.2
UCSC ID: ENST00000682019.1_3
RefSeq Accession: NM_004179.3
Protein: P17752 (aka TPH1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.