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Aliases & Descriptionsfor TPH1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions tryptophan hydroxylase 11 2 MGC1199942 tryptophan hydroxylase (tryptophan 5-monooxygenase)1 2 tryptophan 5-hydroxylase 12 Tryptophan 5-monooxygenase 12 3 indoleacetic acid-5-hydroxylase2 TPRH2 3 L-tryptophan hydroxylase2 TRPH2 3 EC 1.14.16.43 TPH3 5
Export aliases for TPH1 gene to outside databases Previous GC identifers: GC11M018984 GC11M018081 GC11M018006 GC11M018005 GC11M017997
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Summariesfor TPH1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for TPH1 : 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.
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Genomic Viewsfor 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 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TPH1 gene promoter: TBP TFIID E4BP4 STAT3 RORalpha2 STAT1 STAT1alpha STAT1beta Pax-6 ATF6 Other transcription factors Search SABiosciences Chromatin IP Primers for TPH1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays
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) GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure
GeneLoc location for GC11M017724: view genomic region
(about GC identifiers )
Start:
17,724,789 bp from pter
End:
17,745,045 bp from pter
Size:
20,257 bases
Orientation:
minus strand
1 alternative location : Chr 11- 18,041,196-18,062,309
RefSeq DNA sequence: NC_000011.9 NT_009237.18
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Proteinsfor TPH1 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
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 : Multimer of identical subunits
PDB structures from and Proteopedia : 1IN9 (3D)
 1MLW (3D)
 3HF6 (3D)
 3HF8 (3D)
 3HFB (3D)
 
Secondary accessions : O95188 O95189 Q16736 Q3KPG8Alternative splicing : 2 isoforms : P17752-1 P17752-2 Explore the universe of human proteins at neXtProt for TPH1: NX_P17752 Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_004170.1 ENSEMBL proteins: ENSP00000343550 ENSP00000403831 ENSP00000250018 Human Recombinant Proteins 2 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
About this table
TPH1 for ontologies About GeneDecksing Antibodies for TPH1: Assays for TPH1:
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Protein
Domains/ Familiesfor TPH1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
TPH1 for domains About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry P17752 ProtoNet protein and cluster: P17752
2 Blocks protein families : 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 familySimilarity : Contains 1 ACT domain
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Gene Functionfor TPH1 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: TPH1_HUMAN, P17752 Catalytic activity : L-tryptophan + tetrahydrobiopterin + O(2) = 5-hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterinEnzyme Number (IUBMB): EC 1.14.16.4
5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6 ):
GO ID Qualified GO term Evidence PubMed IDs GO:0004497 monooxygenase activity
-- -- GO:0004510 tryptophan 5-monooxygenase activity
EXP 12379098 GO:0005506 iron ion binding
IEA -- GO:0016597 amino acid binding
IEA -- 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
-- --
About this table
TPH1 for ontologies About GeneDecksing Animal Models: 10 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Tph1) :
TPH1 for phenotypes About GeneDecksing
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Pathways & Interactionsfor TPH1 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section
TPH1 for pathways About GeneDecksing 2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for TPH1 2 Kegg Pathways (Kegg details for TPH1) :UniProtKB/Swiss-Prot: TPH1_HUMAN, P17752 Pathway : Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2 SABiosciences Pathway-Focused PCR Arrays including TPH1 : PAHS-060A PAHS-096A Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for TPH1 SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TPH1 5/6 Interacting proteins for TPH1 (ENSP00000343550 3 ) via UniProtKB, MINT, and/or STRING (see all 6 )
About this table 5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7 ):
GO ID Qualified GO term Evidence PubMed IDs GO:0006950 response to stress
-- -- GO:0008152 metabolic process
-- -- GO:0009072 aromatic amino acid family metabolic process
IEA -- GO:0042427 serotonin biosynthetic process
IEA -- GO:0042446 hormone biosynthetic process
TAS --
About this table
TPH1 for ontologies About GeneDecksing
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Drugs & Compoundsfor TPH1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section
TPH1 for compounds About GeneDecksing Compounds for TPH1 available from Tocris Bioscience About this table 10/74 Novoseek chemical compound relationships for TPH1 gene (see all 74 )
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 )
About this table 3 PharmGKB drug compound relationships for TPH1 gene About this table
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Transcriptsfor TPH1 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for TPH1 gene: NM_004179.2
Additional cDNA 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 ):
AI356576 AI914248 AW589305 AI570539 N47569 AI824319 BQ059321 BM451912 AJ243951 CR596582 AI588851 NM_004179 BP382405 CB133049 AW026847 BE502932 AI733159 F08752 X52836 AI216588 BQ056935 BG756369 AI880317 BP346952
highest scoring ESTs for TPH1 :X52836 AV751479 BC106739 BC106740 BP423529 BX114367 DN992199 AY196345 BE252379 BM451912 Unigene Cluster for TPH1:
Tryptophan hydroxylase 1 Hs.591999 [show with all ESTs ] Unigene Representative Sequence: NM_004179 GeneLoc Exon Structure 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000341556 ENST00000417164 (uc009yhe.2 ) ENST00000250018 (uc001mnp.2 )
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Expression for TPH1 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section TPH1 expression in normal and diseased human tissues 1 / 2 / 3
1 probe-set matching TPH1 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
37879_r_at*2 , 3
U95-A
1
--
--
1.00
1.00
AF057280
0.20
1.00
0.72
1
About this table
TPH1 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ATCTCGATGT SOURCE GeneReport for Unigene cluster: Hs.591999 Expression variation in blood from EXPOLDB for TPH1
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 Arrays including TPH1 : PAHS-060A PAHS-096A
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Orthologsfor TPH1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for TPH1 gene from 5/8 species (see all 8 )
About this table Species with no ortholog for TPH1 ENSEMBL Gene Tree for TPH1 (if available)
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Paralogsfor TPH1 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for TPH1 gene TPH2 2 PAH 2 TH 2
TPH1 for paralogs About GeneDecksing
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Genomic Variantsfor TPH1 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 11 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for TPH1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for TPH1: --
QIAGEN SeqTarget long-range PCR primers for resequencing TPH1
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Disorders & Mutationsfor TPH1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
TPH1 for disorders About GeneDecksing
OMIM: 191060 10/40 Novoseek disease relationships for TPH1 gene (see all 40 )
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 )
About this table 1 PharmGKB disease relationship for TPH1 gene About this table Human Gene Mutation Database (HGMD) : TPH1 Genetic Association Database (GAD): TPH1 Human Genome Epidemiology (HuGE) Navigator: TPH1 (150 documents) Export disorders and mutations for TPH1 gene to outside databases
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Medical Newsfor TPH1 gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor TPH1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/467 PubMed articles for TPH1 gene, integrated from 7 sources (see all 467 ): (articles sorted by number of sources associating them with TPH1) Tryptophan hydroxylase gene associated with paroxetine antidepressant activity. (PubMed id 11597824) 1 , 4, 5, 7 Serretti A....Smeraldi E. (2001) Influence of tryptophan hydroxylase and serotonin transporter genes on fluvoxamine antidepressant activity. (PubMed id 11526473) 1 , 4, 5, 7 Serretti A....Smeraldi E. (2001) The TPH intron 7 A218C polymorphism and TCI dimension scores in alcohol-dependent patients: hints to nonspecific psychopathology. (PubMed id 15925123) 1 , 4, 7 Anghelescu I....Szegedi A. (2005) Further evidence of a combined effect of SERTPR and TPH on SSRIs response in mood disorders. (PubMed id 15274037) 1 , 4, 7 Serretti A....Zanardi R. (2004) Genetic variations in tryptophan hydroxylase in suicidal behavior: analysis and meta-analysis. (PubMed id 12915291) 1 , 4, 7 Rujescu D....Moller H.J. (2003) Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan. (PubMed id 15799788) 1 , 4, 7 Lai T.J....Sun H.S. (2005) Association of anger-related traits with SNPs in the TPH gene. (PubMed id 12399958) 1 , 4, 7 Rujescu D....Moller H.J. (2002) Tryptophan hydroxylase gene 218A/C polymorphism is associated with somatic anxiety in major depressive disorder. (PubMed id 11426508) 1 , 4, 7 Du L....Hrdina P.D. (2001) Intronic polymorphism of tryptophan hydroxylase and serotonin transporter: indication for combined effect in predisposition to suicide. (PubMed id 15168220) 1 , 4, 7 Jernej B....Kubat M. (2004) TPH gene polymorphism and aging: indication of combined effect on the predisposition to violent suicide. (PubMed id 16389591) 1 , 4, 7 Stefulj J....Jernej B. (2006)
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External Searches for TPH1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing TPH1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing TPH1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing TPH1 gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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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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Productsfor TPH1 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Tocris compounds for TPH1
ELISAs and CLIAs for TPH1
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