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Aliases & Descriptions for TH
(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
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Aliases EC 1.14.16.2 3 OTTHUMP00000011225 2 OTTHUMP00000011226 2 TYH 2 , 3 , 5
Descriptions Tyrosine 3-hydroxylase 3 tyrosine 3-monooxygenase 2 tyrosine hydroxylase 2
Search outside databases for aliases for TH genePrevious GC identifers: GC11U990132 GC11M002273 GC11M002144 GC11M002149
Summaries for TH (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for TH : The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is therate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiologyof adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawasyndrome. Alternatively spliced transcript variants encoding different isoforms have been notedfor this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101 Function : Plays an important role in the physiology of adrenergic neurons
Gene Wiki entry for TH (Tyrosine_hydroxylase)
Genomic Location for TH
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the TH gene Entrez Gene cytogenetic band: 11p15.5 Ensembl cytogenetic band: 11p15.5 HGNC cytogenetic band: 11p15.5 TH 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 GC11M002141:
(about GC identifiers )
Start:
2,131,627 bp from pter
End:
2,149,611 bp from pter
Size:
17,985 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000011.8 NT_009237.17 Proteins for TH
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101 (See
protein sequence )Recommended Name: Tyrosine 3-monooxygenase Size : 528 amino acids; 58600 Da
Cofactor : Fe(2+) ion
Secondary accessions : Q15585 Q15588 Q15589Alternative splicing : 4 isoforms : P07101-1 P07101-2 P07101-3 P07101-4
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_000351.2 NP_954986.2 NP_954987.2 ENSEMBL proteins: ENSP00000370560 ENSP00000325831 ENSP00000370567 ENSP00000325951 ENSP00000370571 ENSP00000328814 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8
):
About this table Antibodies for TH: Assays for TH:
Protein
Domains/ Families for TH(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P07101 ProtoNet protein and cluster: P07101
1 Blocks protein family : IPB001273 Aromatic amino acid hydroxylase UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101 Similarity : Belongs to the biopterin-dependent aromatic amino acid hydroxylase family
Gene Function for TH
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_199292 Applied Biosystems Silencer ® siRNAs for TH Sigma-Aldrich siRNA and siRNA Panels for TH Sigma-Aldrich shRNA for TH Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_000360                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_000360                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000360  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_199292 UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101 Function : Plays an important role in the physiology of adrenergic neuronsCatalytic activity : L-tyrosine + tetrahydrobiopterin + O(2) = 3,4-dihydroxy-L-phenylalanine +4a-hydroxytetrahydrobiopterin Enzyme regulation : Phosphorylation leads to an increase in the catalytic activityEnzyme Number (IUBMB): EC 1.14.16.2
Genatlas biochemistry entry for TH :tyrosine 3-hydroxylase,58.5kDa,mainly expressed in brain and adrenal glands,rate limiting enzyme inthe biosynthesis of catecholamines,potentially associated with longevity in the male,unlikely tobe associated with bipolar effective disorder (MAFD)
11 MGI mutant phenotypes (inferred from 14 alleles ) (MGI details for Th) :5 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for TH
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for TH (Your Favorite Gene powered by Ingenuity) UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101 Pathway : Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 1/2
Gene Network CentralTM Interacting Genes and Proteins Network for TH 5/126 Interacting proteins for TH (ENSP00000370571 3 ) via UniProtKB, MINT, and/or STRING (see all 126
)About this table 5/19 Gene Ontology (GO) biological process terms (links to tree view) (see all 19
):
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Drugs & Compounds for TH (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 )
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Enzo Life Sciences drugs & compounds for TH
Sigma-Aldrich Small Molecules for TH:Inhibitor
Browse Tocris compounds for TH 10/27 Novoseek chemical compound relationships for TH gene (see all 27
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine
95.74
4713
1967817 (11), 1350320 (9), 15569247 (8), 11223911 (8) (see all 99 )
catecholamine
87.02
415
8103492 (4), 17698732 (4), 11677263 (3), 19120120 (3) (see all 99 )
tyrh(.+)
84.44
6
15468323 (1), 14692751 (1), 15287903 (1), 16475826 (1) (see all 6 )
tcat
80.85
13
11475015 (1), 12428766 (1), 7551967 (1), 18096443 (1) (see all 7 )
tetrahydropterin
80.63
4
1675871 (1), 19281164 (1), 8917440 (1), 16618490 (1)
l-amino acid
79.84
82
9924972 (3), 9148252 (2), 10366680 (2), 11263376 (2) (see all 45 )
1 methyl 4 phenylpyridinium
62.64
32
11036157 (5), 10651107 (3), 7911964 (3), 1975089 (2) (see all 9 )
dihydrobiopterin
61.95
3
8921004 (1), 9843368 (1)
tetrahydropteridine
61.47
2
9413846 (1)
gtp
59.29
82
10938545 (5), 9692753 (3), 12891655 (3), 17135716 (2) (see all 41 )
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Transcripts for TH(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
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 Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_199292 Sigma-Aldrich siRNA and siRNA Panels for TH Sigma-Aldrich shRNA for TH Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000360 NM_199292 NM_199293
REFSEQ mRNAs for TH gene (3 alternative transcripts): NM_000360.3 NM_199292.2 NM_199293.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000360 NM_199292 NM_199293
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_000360                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_000360                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000360  
Additional cDNA sequence: AY144494.1 AY144495.1 BC104967.1 BC143611.1 BC143614.1 DQ677336.1 DQ677337.1 M17589.1 M20912.1 M24790.1 X05290.1 Y00414.1
8 DOTS entries : DT.108479 DT.100751588 DT.100022747 DT.91740988 DT.120712419 DT.95159269 DT.102843985 DT.95237873
6 AceView cDNA sequences :M24790 BQ718391 T27948 NM_199293 NM_000360 NM_199292
highest scoring ESTs for TH :M17589 M24790 BQ718391 CA949421 M20912 NM_000360 NM_199292 NM_199293 T27948 X05290
Unigene Cluster for TH: Tyrosine hydroxylase Hs.435609 [show with all ESTs ] Unigene Representative Sequence: M17589 GeneLoc Exon Structure 5/7 Alternative Splicing Database (ASD) splice patterns (SP) for TH (see all 7
) ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 SP1 :   -         -                         SP2 :           -                         SP3 :   -   -       -                         SP4 :   -   -   -     -                         SP5 :                     -              
About this scheme ECgene alternative splicing isoforms for TH 6 Ensembl transcripts including schematic representations : ENST00000381168
ENST00000324155
ENST00000381175
ENST00000352909
ENST00000381178
ENST00000333684
Expression for TH
(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 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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TH expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for TH 1 / 2 / 3
3 probe-sets matching TH gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CCCTCCCTGCSOURCE GeneReport for Unigene cluster: Hs.435609 Expression variation in blood from EXPOLDB for TH
UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101 Tissue specificity : Mainly expressed in the brain and adrenal glands
Orthologs for TH
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for TH gene from 5/10 species (see all 10
)
About this table Species with no ortholog for TH ENSEMBL Gene Tree for TH Paralogs for TH (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for TH gene TPH1 2 TPH2 2 PAH 2
SNPs/Variants for TH (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for TH (up to first 250kb)
Disorders & Mutations for TH
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 191290 disorders : 605407 UniProtKB/Swiss-Prot: TY3H_HUMAN, P07101
Defects in TH are the cause of dystonia DOPA-responsive autosomal recessive (ARDRD)[MIM:605407]; also known as autosomal recessive Segawa syndrome. ARDRD is a form ofDOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by thepresence of sustained involuntary muscle contractions, often leading to abnormal postures. Somecases of ARDRD present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia,it is an eminently treatable condition, due to a favorable response to L-DOPA
10/93 Novoseek disease relationships for TH gene (see all 93
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
parkinson disease
86.66
113
7893377 (4), 10518586 (3), 8822146 (2), 1349211 (2) (see all 71 )
dystonia, dopa-responsive, autosomal recessive
76.50
1
15476168 (1)
gtp cyclohydrolase i deficiency
74.53
4
12891655 (3), 10079965 (1)
parkinsonism
70.14
15
11134401 (1), 18419768 (1), 1356749 (1), 10023444 (1) (see all 12 )
pheochromocytoma
62.97
72
1678741 (4), 1353277 (4), 12651811 (3), 7602797 (3) (see all 35 )
neurodegenerative diseases
55.82
3
9228951 (1), 15933869 (1)
lewy body disease
54.47
8
18386627 (2), 17493034 (1), 15933869 (1), 17985144 (1)
neurodegeneration
52.05
10
16543240 (1), 17442064 (1), 1975089 (1), 15681811 (1) (see all 7 )
hyperphenylalaninemia
46.67
4
17432176 (1), 9744478 (1), 16541791 (1)
neuroblastoma metastatic
46.47
3
16384890 (1), 18814238 (1)
About this table GeneTests: TH Tyrosine Hydroxylase Deficiency Human Gene Mutation Database : TH Genetic Association Database: TH Human Genome Epidemiology Navigator: TH (495 documents)
Medical News for TH (Possibly Related Articles in
Doctor's Guide )
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--
Publications for TH (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/1214 PubMed articles for TH gene (see all 1214
): Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease. (PubMed id 9613851) 1, 3, 4, 6 Kunugi H.... Nanko S. (1998) Systematic search for variations in the tyrosine hydroxylase gene and their associations with schizophrenia, affective disorders, and alcoholism. (PubMed id 9754624) 1, 3, 4 Ishiguro H.... Shibuya H. (1998) Polymorphism of the insulin gene is associated with increased prostate cancer risk. (PubMed id 12610512) 1, 3, 6 Ho G.Y....Chua S.C. (2003) VNTR polymorphism of tyrosine hydroxylase gene and schizophrenia in the Korean population. (PubMed id 12759555) 1, 3, 6 Pae C.U....Paik I.H. (2003) Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. (PubMed id 8817341) 1, 3, 4 Luedecke B.... Flatmark T. (1996) Replication of IGF2-INS-TH*5 haplotype effect on obesity in older men and study of related phenotypes. (PubMed id 16251897) 3, 6 Rodriguez S....Day I.N. (2006) Combined analysis of association between personality traits and three functional polymorphisms in the tyrosine hydroxylase, monoamine oxidase A, and catechol-O-methyltransferase genes. (PubMed id 16360899) 3, 6 Tochigi M....Sasaki T. (2006) A study of TH01 and IGF2-INS-TH haplotypes in relation to smoking initiation in three independent surveys. (PubMed id 16344718) 3, 6 Rodriguez S....Day I.N. (2006) DNA polymorphisms in the tyrosine hydroxylase and GNB3 genes: association with unexpected death from acute myocardial infarction and increased heart weight. (PubMed id 16139102) 3, 6 Klintschar M....Kleiber M. (2005) TH01, a tetrameric short tandem repeat locus in the tyrosine hydroxylase gene: association with myocardial hypertrophy and death from myocardial infarction? (PubMed id 15735319) 3, 6 Klintschar M....Kleiber M. (2005)
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Genome Databases showing TH
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing TH
(According to HUGE )
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Specialized Databases showing TH (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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Name Description
GeneReviews http://www.genetests.org/query?gene=TH Wikipedia http://en.wikipedia.org/wiki/Tyrosine_hydroxylase
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-- Services for TH (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for TH:
Antibodies & Assays for TH   (Tyrosine hydroxylase)
Search Tocris compounds for TH
Antibodies for TH
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Aliases for TH
Databases for TH
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Domains/Families for TH
Drugs/Compounds for TH
Expression for TH
Function for TH
Location for TH
Medical News for TH
Orthologs for TH
Paralogs for TH
Pathways/Interactions for TH
Proteins for TH
Publications for TH
SNPs for TH
Search Box for TH
Services for TH
Summaries for TH
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Transcripts for TH
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009