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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TPH1 Gene

protein-coding GIFtS: 66
GCID: GC11M018040

tryptophan hydroxylase 1

(Previous name: tryptophan hydroxylase (tryptophan 5-monooxygenase) )
(Previous symbols: TPRH, TPH)

Explore 85 diseases affiliated with
TPH1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tryptophan Hydroxylase 1¹ ²		EC 1.14.16.4³ ⁸
TPRH¹ ² ³		Indoleacetic Acid-5-Hydroxylase²
TPH¹ ³ ⁵		L-Tryptophan Hydroxylase²
Tryptophan Hydroxylase (Tryptophan 5-Monooxygenase)¹ ²		Tryptophan 5-Hydroxylase 1²
Tryptophan 5-Monooxygenase 1² ³		EC 1.14.16⁸
TRPH² ³

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:

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)

summary for TPH1:

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-? hydroxylase (also known as CYP11B1) (E.C. 1.14.15.4), which

is involved in glucocorticoid synthesis; and LTB4 ?-hydroxylase (also known as CYP4F3) (E.C. 1.14.13.30),

which is involved in arachidonic acid metabolism.

Gene Wiki entry for TPH1

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_009237.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TPH1 gene promoter:
TBP
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TPH1 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

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 MOPED and PaxDb: About this image

REFSEQ proteins: NP_004170.1

ENSEMBL proteins:

ENSP00000250018 ENSP00000403831 ENSP00000436081 ENSP00000343550

Reactome Protein details: P17752
Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TPH1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0043005	neuron projection	IEA	--

TPH1 for ontologies About GeneDecksing

TPH1 Antibody Products:

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	ThermoFisher Antibody for TPH1

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	Uscn ELISAs and CLIAs for TPH1

(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):

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 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 family

Similarity: Contains 1 ACT domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 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

miRNA Products:		OriGene 3'-UTR Clone: TPH1 Browse MicroRNA Expression Plasmids
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TPH1 (see all 7) OriGene shRNA RFP: TPH1 OriGene siRNA: TPH1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TPH1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TPH1

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		GenScript: all cDNA clones in your preferred vector: TPH1 (NM_004179)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TPH1
		Search LifeMap BioReagents cell lines for TPH1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPH1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004510	tryptophan 5-monooxygenase activity	IEA	--
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	--	--

TPH1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TPH1:

Synthetic lethal with Ras

Animal Models:
Mouse knock-outs for TPH1: Tph1^tm1Lex Tph1^tm1Bdr
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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Regulation of thyroid hormone activity

	Amine-derived hormones	0.21			Serotonin and melatonin biosynthesis	0.00
	serotonin and melatonin biosynthesis	0.00			Biogenic Amine Synthesis	0.00

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Tryptophan metabolism

Tryptophan metabolism

1.00

Tryptophan metabolism

0.47

Neuroscience

Neuroscience

1.00

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for TPH1

Neuroscience

4 BioSystems Pathways for TPH1

	Biogenic Amine Synthesis
	SIDS Susceptibility Pathways
	serotonin and melatonin biosynthesis
	Tryptophan metabolism

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

2 Kegg Pathways (Kegg details for TPH1):

	Tryptophan metabolism
	Metabolic pathways

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 Central^TM 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)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207
PRKACA	P17612³, ENSP00000309591⁴	I2D: score=1 STRING: ENSP00000309591
YWHAH	Q04917³, ENSP00000248975⁴	I2D: score=1 STRING: ENSP00000248975
YWHAZ	P63104³, ENSP00000309503⁴	I2D: score=2 STRING: ENSP00000309503
DDC	ENSP00000350616⁴	STRING: ENSP00000350616

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006950	response to stress	--	--
GO:0007623	circadian rhythm	IEA	--
GO:0009072	aromatic amino acid family metabolic process	IEA	--
GO:0030279	negative regulation of ossification	IEA	--
GO:0034641	cellular 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, 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

Compound	Action	CAS #
p-Chlorophenylalanine	Tryptophan hydroxylase inhibitor	[7424-00-2]

9 HMDB Compounds for TPH1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Dihydrobiopterin	(S-(R,S))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone (see all 15)	6779-87-9	12379098
Tetrahydrobiopterin	(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)	17528-72-2	11517215
4a-Hydroxytetrahydrobiopterin	2-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	--
Iron	Armco iron (see all 19)	7439-89-6	--
L-Tryptophan	(-)-tryptophan (see all 53)	73-22-3	--
Oxygen	Oxygen (see all 5)	7782-44-7	--
Sapropterin	(6R)-5,6,7,8-Tetrahydro-L-biopterin (see all 11)	62989-33-7	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

3 DrugBank Compounds for TPH1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Tryptophan	(-)-Tryptophan (see all 14)	73-22-3	enzyme	substrate	16897368 17519505 17492791 16953590 17376153
Tetrahydrobiopterin	5,6,7,8 Tetrahydrobiopterin (see all 3)	17528-72-2	target	cofactor	15223360 10381000 2665179 12414107 11472242
7,8-Dihydro-L-Biopterin	--	--	target	--	17139284 17016423

10/74 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about TPH1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, 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

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TPH1

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):

AI216588 F08752 NM_004179 AI356576 AI588851 AI570539 BQ056935 CB133049

AI914248 AI880317 AW026847 BM725728 AI733159 BP346952 CR596582 Z41788

BQ718633 AW589305 BP382405 AJ243951 BG756369 AW770701 BE502932 AI824319

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATCTCGATGT

About this image

TPH1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Skeletal Muscle

Extraocular Muscles

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Midbrain dopaminergic-like neurons (Generation of midbra...)

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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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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TPH1 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
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	--	75(a)	1 ↔ 1	1(67637605-67651783)
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

TH² PAH² TPH2²

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, UniProtKB, 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)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1133758^1,2	C,F,H	--	17724498(-)	`GTTTTC/TTTTCA`	1	--	ds500¹		4		MN NS NA	538
rs45509495^1,2	C,	--	17724754(+)	`AAATTG/TTAGTG`	1	--	ds500¹		0	--	--	--	--
rs61476554^1,2	C,F,	--	17725643(+)	`TTTACA/GTTATA`	1	--	int¹		3		WA CSA	122
rs58719050^1,2	C,	--	17725793(+)	`TTACAA/CCACTT`	1	--	int¹		2		WA	120
rs211100^1,2	H	--	17725841(+)	`TAACTA/CTACCT`	1	--	int¹		6		NS EA NA	420
rs79493207^1,2	C,	--	17726438(+)	`ATTTTC/TGCCTG`	1	--	int¹		2		WA	120
rs73428362^1,2	C,	--	17726564(+)	`ATTTCT/CCAACA`	1	--	int¹		2		WA	120
rs75625154^1,2	C,	--	17726675(+)	`TTTGTC/TCACCT`	1	--	int¹		2		WA	120
rs112617080^1,2		--	17727238(+)	`GATCAC/TGCAAC`	1	--	int¹		1		CSA	2
rs35527095^1,2	C,F,	--	17727345(+)	`CACTCC/AAGCAA`	1	--	int¹		3		NA	124

HapMap Linkage Disequilibrium report for TPH1 (18039111 - 18063973 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TPH1: --
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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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TPH1 for disorders           About GeneDecksing

OMIM gene information: 191060    OMIM disorders: --

20/85 diseases for TPH1 (see all 85):    About MalaCards

bipolar disorder obsessive-compulsive disorder dentatorubral-pallidoluysian atrophy dopa-responsive dystonia

attention deficit hyperactivity disorder manic-depressive illness xeroderma pigmentosum, group a sepiapterin reductase deficiency

seasonal affective disorder generalized anxiety disorder infantile epileptic encephalopathy schizophrenia

autoimmune polyendocrine syndrome type 1 sudden infant death syndrome early myoclonic encephalopathy autoimmune polyendocrine syndrome

anxiety disorder xeroderma pigmentosum childhood-onset schizophrenia borderline personality disorder

2 diseases from the University of Copenhagen DISEASES database for TPH1:

Borderline personality disorder Irritable bowel syndrome

10/40 Novoseek 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 9 sources (see all 490):
(articles sorted by number of sources associating them with TPH1)

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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)
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)
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)
Genetic variations in tryptophan hydroxylase in suicidal behavior: analysis and meta-analysis. (PubMed id 12915291)^{1, 4, 9} 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, 9} Lai T.J....Sun H.S. (2005)
Association of anger-related traits with SNPs in the TPH gene. (PubMed id 12399958)^{1, 4, 9} 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, 9} 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, 9} 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, 9} Stefulj J....Jernej B. (2006)
Variability of the tryptophan hydroxylase gene: study in victims of violent suicide. (PubMed id 15808291)^{1, 4, 9} Stefulj J....Jernej B. (2005)

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

Query String		PubMed OMIM NCBI Bookshelf
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(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TPH1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TPH1 gene
(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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tryptophan hydroxylase 1

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tryptophan hydroxylase 1

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