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TH (tyrosine hydroxylase)

Identity

Other namesDYT14
DYT5b
TYH
HGNC (Hugo) TH
LocusID (NCBI) 7054
Location 11p15.5
Location_base_pair Starts at 2185159 and ends at 2193035 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)TH   11782
Entrez_Gene (NCBI)TH  7054  tyrosine hydroxylase
Cards
GeneCards (Weizmann)TH
Ensembl (Hinxton)ENSG00000180176 [Gene_View]  chr11:2185159-2193035 [Contig_View]  TH [Vega]
AceView (NCBI)TH
Genatlas (Paris)TH
SOURCE (Stanford)NM_000360 NM_199292 NM_199293
Genomic and cartography
GoldenPath (UCSC)TH  -  11p15.5   chr11:2185159-2193035 -  11p15.5   [Description]    (hg19-Feb_2009)
EnsemblTH - 11p15.5 [CytoView]
Mapping of homologs : NCBITH [Mapview]
OMIM191290   605407   
Gene and transcription
Genbank (Entrez)AA447751 AY144494 AY144495 BC104967 BC143611
RefSeq transcript (SRS)NM_000360 NM_199292 NM_199293
RefSeq transcript (Entrez)NM_000360 NM_199292 NM_199293
RefSeq genomic (SRS)AC_000143 NC_000011 NC_018922 NG_008128 NT_009237 NW_001838018 NW_004078070
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_008128 NT_009237 NW_001838018 NW_004078070
Consensus coding sequences : CCDS (NCBI)TH
Cluster EST : UnigeneHs.435609 [ SRS ] Hs.435609 [ NCBI ]
CGAP (NCI)Hs.435609
Alternative Splicing : Fast-db (Paris)GSHG0005468
Alternative Splicing GalleryENSG00000180176
Gene ExpressionTH [ NCBI-GEO ]   TH [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07101 (SRS) P07101 (Uniprot)
NextProtP07101
With graphics : InterProP07101
Splice isoforms : SwissVarP07101(Swissvar)
Domaine pattern : Prosite (SRS)BH4_AAA_HYDROXYL_1 (PS00367)    BH4_AAA_HYDROXYL_2 (PS51410)   
Domaine pattern : Prosite (Expaxy)BH4_AAA_HYDROXYL_1 (PS00367)    BH4_AAA_HYDROXYL_2 (PS51410)   
Domains : Interpro (SRS)ArAA_hydroxylase    ArAA_hydroxylase_Fe/CU_BS    Aromatic-AA_hydroxylase_C    Tyr_3_mOase    Tyrosine_3-monooxygenase-like    Tyrosine_hydroxylase_CS   
Domains : Interpro (EBI)ArAA_hydroxylase    ArAA_hydroxylase_Fe/CU_BS    Aromatic-AA_hydroxylase_C    Tyr_3_mOase    Tyrosine_3-monooxygenase-like    Tyrosine_hydroxylase_CS   
Related proteins : CluSTrP07101
Domain families : Pfam (SRS)Biopterin_H (PF00351)    TOH_N (PF12549)   
Domain families : Pfam (Sanger)Biopterin_H (PF00351)    TOH_N (PF12549)   
Domain families : Pfam (NCBI)pfam00351    pfam12549   
DMDM7054
Blocks (Seattle)P07101
PDB (SRS)2XSN   
PDB (PDBSum)2XSN   
PDB (IMB)2XSN   
PDB (RSDB)2XSN   
Human Protein AtlasENSG00000180176
HPRD01865
IPIIPI00010178   IPI00218275   IPI00398179   IPI00922082   IPI00217988   IPI00878515   IPI00873432   IPI00878304   
Protein Interaction databases
DIP (DOE-UCLA)P07101
IntAct (EBI)P07101
FunCoupENSG00000180176
REACTOMETH
Protein Interaction Database7054
BioGRIDTH
InParanoidP07101
Interologous Interaction database P07101
IntegromeDBTH
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)TH
SNP (GeneSNP Utah)TH
SNP : HGBaseTH
Genetic variants : HAPMAPTH
Somatic Mutations in Cancer : COSMICTH 
CONAN: Copy Number AnalysisTH 
Mutations and Diseases : HGMDTH
OMIM191290    605407   
GENETests191290    605407   
Disease Genetic AssociationTH
Huge Navigator TH [HugePedia]  TH [HugeCancerGEM]
Genomic VariantsTH  TH [DGVbeta]
snp3D : Map Gene to Disease7054
General knowledge
Homologs : HomoloGeneTH
Homology/Alignments : Family Browser (UCSC)TH
Phylogenetic Trees/Animal Genes : TreeFamTH
Catalytic activity : Enzyme1.14.16.2 [ Enzyme-Expasy ]   1.14.16.2 [ Enzyme-SRS ]   1.14.16.2 [ IntEnz-EBI ]   1.14.16.2 [ BRENDA ]   1.14.16.2 [ KEGG ]   
Chemical/Protein Interactions : CTD7054
Chemical/Pharm GKB GenePA351
Clinical trialTH
Cancer Resource (Charite)ENSG00000180176
Ontology : AmiGOresponse to hypoxia  synaptic transmission, dopaminergic  response to amphetamine  heart morphogenesis  tyrosine 3-monooxygenase activity  protein binding  nucleus  cytoplasm  mitochondrion  smooth endoplasmic reticulum  cytosol  dopamine biosynthetic process from tyrosine  fatty acid metabolic process  sphingolipid metabolic process  heart development  visual perception  sensory perception of sound  learning  memory  mating behavior  locomotory behavior  regulation of heart contraction  synaptic vesicle  ferrous iron binding  ferric iron binding  response to water deprivation  response to light stimulus  response to herbicide  response to salt stress  anatomical structure morphogenesis  organ morphogenesis  internal side of plasma membrane  response to zinc ion  multicellular organismal aging  response to activity  synaptic vesicle amine transport  amino acid binding  phthalate metabolic process  oxygen binding  protein domain specific binding  cerebral cortex development  dendrite  cytoplasmic vesicle  response to nutrient levels  response to estradiol stimulus  response to lipopolysaccharide  isoquinoline alkaloid metabolic process  melanosome membrane  tetrahydrobiopterin binding  cellular nitrogen compound metabolic process  social behavior  dopamine binding  cellular response to drug  neurotransmitter biosynthetic process  terpene metabolic process  dopamine biosynthetic process  epinephrine biosynthetic process  norepinephrine biosynthetic process  catecholamine biosynthetic process  eye photoreceptor cell development  circadian sleep/wake cycle  eating behavior  neuron projection  terminal button  perikaryon  response to peptide hormone stimulus  pigmentation  small molecule metabolic process  response to ethanol  response to ether  response to pyrethroid  embryonic camera-type eye morphogenesis  response to corticosterone stimulus  response to electrical stimulus  phytoalexin metabolic process  cellular response to manganese ion  cellular response to nicotine  cellular response to glucose stimulus  cellular response to growth factor stimulus  
Ontology : EGO-EBIresponse to hypoxia  synaptic transmission, dopaminergic  response to amphetamine  heart morphogenesis  tyrosine 3-monooxygenase activity  protein binding  nucleus  cytoplasm  mitochondrion  smooth endoplasmic reticulum  cytosol  dopamine biosynthetic process from tyrosine  fatty acid metabolic process  sphingolipid metabolic process  heart development  visual perception  sensory perception of sound  learning  memory  mating behavior  locomotory behavior  regulation of heart contraction  synaptic vesicle  ferrous iron binding  ferric iron binding  response to water deprivation  response to light stimulus  response to herbicide  response to salt stress  anatomical structure morphogenesis  organ morphogenesis  internal side of plasma membrane  response to zinc ion  multicellular organismal aging  response to activity  synaptic vesicle amine transport  amino acid binding  phthalate metabolic process  oxygen binding  protein domain specific binding  cerebral cortex development  dendrite  cytoplasmic vesicle  response to nutrient levels  response to estradiol stimulus  response to lipopolysaccharide  isoquinoline alkaloid metabolic process  melanosome membrane  tetrahydrobiopterin binding  cellular nitrogen compound metabolic process  social behavior  dopamine binding  cellular response to drug  neurotransmitter biosynthetic process  terpene metabolic process  dopamine biosynthetic process  epinephrine biosynthetic process  norepinephrine biosynthetic process  catecholamine biosynthetic process  eye photoreceptor cell development  circadian sleep/wake cycle  eating behavior  neuron projection  terminal button  perikaryon  response to peptide hormone stimulus  pigmentation  small molecule metabolic process  response to ethanol  response to ether  response to pyrethroid  embryonic camera-type eye morphogenesis  response to corticosterone stimulus  response to electrical stimulus  phytoalexin metabolic process  cellular response to manganese ion  cellular response to nicotine  cellular response to glucose stimulus  cellular response to growth factor stimulus  
Pathways : KEGGTyrosine metabolismParkinson's disease
Other databases
Probes
Litterature
PubMed178 Pubmed reference(s) in Entrez
PubGeneTH
iHOPTH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:24:21 CEST 2013
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