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P07101

- TY3H_HUMAN

UniProt

P07101 - TY3H_HUMAN

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Protein

Tyrosine 3-monooxygenase

Gene
TH, TYH
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Plays an important role in the physiology of adrenergic neurons.

Catalytic activityi

L-tyrosine + tetrahydrobiopterin + O2 = L-dopa + 4a-hydroxytetrahydrobiopterin.

Cofactori

Fe2+ ion.

Enzyme regulationi

Phosphorylation leads to an increase in the catalytic activity.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi361 – 3611Iron By similarity
Metal bindingi366 – 3661Iron By similarity
Metal bindingi406 – 4061Iron By similarity

GO - Molecular functioni

  1. amino acid binding Source: Ensembl
  2. dopamine binding Source: Ensembl
  3. ferric iron binding Source: Ensembl
  4. ferrous iron binding Source: Ensembl
  5. oxygen binding Source: Ensembl
  6. protein binding Source: BHF-UCL
  7. tetrahydrobiopterin binding Source: Ensembl
  8. tyrosine 3-monooxygenase activity Source: UniProtKB

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. catecholamine biosynthetic process Source: Reactome
  3. cellular nitrogen compound metabolic process Source: Reactome
  4. cellular response to drug Source: Ensembl
  5. cellular response to glucose stimulus Source: Ensembl
  6. cellular response to growth factor stimulus Source: Ensembl
  7. cellular response to manganese ion Source: Ensembl
  8. cellular response to nicotine Source: Ensembl
  9. cerebral cortex development Source: Ensembl
  10. circadian sleep/wake cycle Source: Ensembl
  11. dopamine biosynthetic process Source: BHF-UCL
  12. dopamine biosynthetic process from tyrosine Source: BHF-UCL
  13. eating behavior Source: Ensembl
  14. embryonic camera-type eye morphogenesis Source: BHF-UCL
  15. epinephrine biosynthetic process Source: BHF-UCL
  16. eye photoreceptor cell development Source: BHF-UCL
  17. fatty acid metabolic process Source: Ensembl
  18. glycoside metabolic process Source: Ensembl
  19. heart development Source: BHF-UCL
  20. heart morphogenesis Source: BHF-UCL
  21. isoquinoline alkaloid metabolic process Source: Ensembl
  22. learning Source: BHF-UCL
  23. locomotory behavior Source: BHF-UCL
  24. mating behavior Source: Ensembl
  25. memory Source: BHF-UCL
  26. multicellular organismal aging Source: Ensembl
  27. neurotransmitter biosynthetic process Source: UniProtKB-KW
  28. norepinephrine biosynthetic process Source: BHF-UCL
  29. organ morphogenesis Source: BHF-UCL
  30. phthalate metabolic process Source: Ensembl
  31. phytoalexin metabolic process Source: Ensembl
  32. pigmentation Source: BHF-UCL
  33. regulation of heart contraction Source: BHF-UCL
  34. response to activity Source: Ensembl
  35. response to amphetamine Source: Ensembl
  36. response to corticosterone Source: Ensembl
  37. response to electrical stimulus Source: Ensembl
  38. response to estradiol Source: Ensembl
  39. response to ethanol Source: BHF-UCL
  40. response to ether Source: Ensembl
  41. response to herbicide Source: Ensembl
  42. response to hypoxia Source: BHF-UCL
  43. response to light stimulus Source: Ensembl
  44. response to lipopolysaccharide Source: Ensembl
  45. response to nutrient levels Source: Ensembl
  46. response to peptide hormone Source: Ensembl
  47. response to pyrethroid Source: Ensembl
  48. response to salt stress Source: Ensembl
  49. response to water deprivation Source: Ensembl
  50. response to zinc ion Source: Ensembl
  51. sensory perception of sound Source: Ensembl
  52. small molecule metabolic process Source: Reactome
  53. social behavior Source: Ensembl
  54. sphingolipid metabolic process Source: Ensembl
  55. synaptic transmission, dopaminergic Source: BHF-UCL
  56. synaptic vesicle amine transport Source: Ensembl
  57. terpene metabolic process Source: Ensembl
  58. visual perception Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Biological processi

Catecholamine biosynthesis, Neurotransmitter biosynthesis

Keywords - Ligandi

Iron, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_15551. Catecholamine biosynthesis.
UniPathwayiUPA00747; UER00733.

Names & Taxonomyi

Protein namesi
Recommended name:
Tyrosine 3-monooxygenase (EC:1.14.16.2)
Alternative name(s):
Tyrosine 3-hydroxylase
Short name:
TH
Gene namesi
Name:TH
Synonyms:TYH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:11782. TH.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytoplasmic side of plasma membrane Source: BHF-UCL
  3. cytoplasmic vesicle Source: BHF-UCL
  4. cytosol Source: Reactome
  5. dendrite Source: Ensembl
  6. melanosome membrane Source: BHF-UCL
  7. mitochondrion Source: Ensembl
  8. neuron projection Source: BHF-UCL
  9. nucleus Source: BHF-UCL
  10. perikaryon Source: BHF-UCL
  11. smooth endoplasmic reticulum Source: BHF-UCL
  12. synaptic vesicle Source: Ensembl
  13. terminal bouton Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]: A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.7 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti233 – 2331R → H in ARSEGS. 1 Publication
VAR_014026
Natural varianti236 – 2361L → P in ARSEGS; severe parkinsonian symptoms in early infancy; strongly reduced stability and catalytic activity; rare mutation. 2 Publications
VAR_014027
Natural varianti276 – 2761T → P in ARSEGS; parkinsonian symptoms in infancy. 1 Publication
Corresponds to variant rs28934581 [ dbSNP | Ensembl ].
VAR_014028
Natural varianti314 – 3141T → M in ARSEGS; parkinsonian symptoms in infancy. 1 Publication
VAR_014029
Natural varianti337 – 3371R → H in ARSEGS; parkinsonian symptoms in infancy. 1 Publication
Corresponds to variant rs28934580 [ dbSNP | Ensembl ].
VAR_014030
Natural varianti412 – 4121Q → K in ARSEGS; reduced affinity for L-tyrosine. 2 Publications
VAR_014031
Natural varianti494 – 4941T → M in ARSEGS; parkinsonian symptoms in infancy. 1 Publication
Corresponds to variant rs45471299 [ dbSNP | Ensembl ].
VAR_014032
May play a role in the pathogenesis of Parkinson disease (PD). A genome-wide copy number variation analysis has identified a 34 kilobase deletion over the TH gene in a PD patient but not in any controls.1 Publication

Keywords - Diseasei

Disease mutation, Dystonia, Parkinson disease, Parkinsonism

Organism-specific databases

MIMi605407. phenotype.
Orphaneti101150. Autosomal recessive dopa-responsive dystonia.
PharmGKBiPA351.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 528527Tyrosine 3-monooxygenasePRO_0000205561Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei19 – 191Phosphoserine; by CaMK21 Publication
Modified residuei62 – 621Phosphoserine By similarity
Modified residuei71 – 711Phosphoserine; by CaMK2 and PKA1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP07101.
PRIDEiP07101.

PTM databases

PhosphoSiteiP07101.

Expressioni

Tissue specificityi

Mainly expressed in the brain and adrenal glands.

Gene expression databases

ArrayExpressiP07101.
BgeeiP07101.
CleanExiHS_TH.
GenevestigatoriP07101.

Organism-specific databases

HPAiCAB002522.

Interactioni

Protein-protein interaction databases

BioGridi112912. 4 interactions.
IntActiP07101. 4 interactions.
MINTiMINT-198913.
STRINGi9606.ENSP00000370571.

Structurei

Secondary structure

1
528
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi201 – 2066
Turni216 – 2183
Turni223 – 2264
Helixi228 – 24316
Helixi257 – 27721
Helixi280 – 29213
Helixi303 – 31412
Beta strandi317 – 3204
Helixi327 – 3348
Turni335 – 3373
Beta strandi338 – 3414
Helixi359 – 3657
Helixi367 – 3704
Helixi373 – 38614
Helixi391 – 40313
Turni404 – 4074
Beta strandi409 – 4124
Beta strandi415 – 4184
Helixi421 – 4244
Helixi427 – 4337
Beta strandi435 – 4428
Helixi445 – 4495
Beta strandi455 – 4573
Beta strandi460 – 4667
Helixi468 – 48013
Beta strandi485 – 4917
Turni492 – 4954
Beta strandi496 – 5005
Helixi503 – 52624

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2XSNX-ray2.68A/B/C/D193-528[»]
4J6SX-ray3.08E/F/G/H1-74[»]
ProteinModelPortaliP07101.
SMRiP07101. Positions 95-528.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi85 – 906Poly-Ala

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG3186.
HOGENOMiHOG000233373.
HOVERGENiHBG006841.
InParanoidiP07101.
KOiK00501.
OMAiELDKCHH.
PhylomeDBiP07101.
TreeFamiTF313327.

Family and domain databases

Gene3Di1.10.800.10. 1 hit.
InterProiIPR001273. ArAA_hydroxylase.
IPR018301. ArAA_hydroxylase_Fe/CU_BS.
IPR019774. Aromatic-AA_hydroxylase_C.
IPR005962. Tyr_3_mOase.
IPR019773. Tyrosine_3-monooxygenase-like.
IPR021164. Tyrosine_hydroxylase_CS.
[Graphical view]
PANTHERiPTHR11473. PTHR11473. 1 hit.
PfamiPF00351. Biopterin_H. 1 hit.
PF12549. TOH_N. 3 hits.
[Graphical view]
PIRSFiPIRSF000336. TH. 1 hit.
PRINTSiPR00372. FYWHYDRXLASE.
SUPFAMiSSF56534. SSF56534. 1 hit.
TIGRFAMsiTIGR01269. Tyr_3_monoox. 1 hit.
PROSITEiPS00367. BH4_AAA_HYDROXYL_1. 1 hit.
PS51410. BH4_AAA_HYDROXYL_2. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. Align

Note: TH transcripts lacking exons 8 and 9 present concomitant splicing in exons 1b and 2.

Isoform 3 (identifier: P07101-1) [UniParc]FASTAAdd to Basket

Also known as: TH type 4

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MPTPDATTPQ AKGFRRAVSE LDAKQAEAIM VRGQGAPGPS LTGSPWPGTA    50
APAASYTPTP RSPRFIGRRQ SLIEDARKER EAAVAAAAAA VPSEPGDPLE 100
AVAFEEKEGK AVLNLLFSPR ATKPSALSRA VKVFETFEAK IHHLETRPAQ 150
RPRAGGPHLE YFVRLEVRRG DLAALLSGVR QVSEDVRSPA GPKVPWFPRK 200
VSELDKCHHL VTKFDPDLDL DHPGFSDQVY RQRRKLIAEI AFQYRHGDPI 250
PRVEYTAEEI ATWKEVYTTL KGLYATHACG EHLEAFALLE RFSGYREDNI 300
PQLEDVSRFL KERTGFQLRP VAGLLSARDF LASLAFRVFQ CTQYIRHASS 350
PMHSPEPDCC HELLGHVPML ADRTFAQFSQ DIGLASLGAS DEEIEKLSTL 400
YWFTVEFGLC KQNGEVKAYG AGLLSSYGEL LHCLSEEPEI RAFDPEAAAV 450
QPYQDQTYQS VYFVSESFSD AKDKLRSYAS RIQRPFSVKF DPYTLAIDVL 500
DSPQAVRRSL EGVQDELDTL AHALSAIG 528
Length:528
Mass (Da):58,600
Last modified:June 16, 2009 - v5
Checksum:i31D2D49955ACF070
GO
Isoform 1 (identifier: P07101-2) [UniParc]FASTAAdd to Basket

Also known as: TH type 3

The sequence of this isoform differs from the canonical sequence as follows:
     31-34: Missing.

Show »
Length:524
Mass (Da):58,160
Checksum:i708422BBD3304A6C
GO
Isoform 2 (identifier: P07101-3) [UniParc]FASTAAdd to Basket

Also known as: HTH-1, hTH-Delta1b,2, TH type 1

The sequence of this isoform differs from the canonical sequence as follows:
     31-61: Missing.

Show »
Length:497
Mass (Da):55,612
Checksum:i6CB8EDC9C4874288
GO
Isoform 4 (identifier: P07101-4) [UniParc]FASTAAdd to Basket

Also known as: hTH-Delta2, TH type 2

The sequence of this isoform differs from the canonical sequence as follows:
     35-61: Missing.

Show »
Length:501
Mass (Da):56,052
Checksum:iB614295B9CB2921F
GO
Isoform 5 (identifier: P07101-5) [UniParc]FASTAAdd to Basket

Also known as: hTH-Delta2,8,9

The sequence of this isoform differs from the canonical sequence as follows:
     35-61: Missing.
     264-357: Missing.

Note: Lacks catalytic activity.

Show »
Length:407
Mass (Da):45,338
Checksum:i71FB6BA8A6061F44
GO
Isoform 6 (identifier: P07101-6) [UniParc]FASTAAdd to Basket

Also known as: hTH-Delta1b,2,8,9

The sequence of this isoform differs from the canonical sequence as follows:
     31-61: Missing.
     264-357: Missing.

Note: Lacks catalytic activity.

Show »
Length:403
Mass (Da):44,898
Checksum:iDAD3F18191575F99
GO

Sequence cautioni

The sequence AAA61173.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti112 – 1121V → M Common polymorphism. 4 Publications
Corresponds to variant rs6356 [ dbSNP | Ensembl ].
VAR_014025
Natural varianti233 – 2331R → H in ARSEGS. 1 Publication
VAR_014026
Natural varianti236 – 2361L → P in ARSEGS; severe parkinsonian symptoms in early infancy; strongly reduced stability and catalytic activity; rare mutation. 2 Publications
VAR_014027
Natural varianti276 – 2761T → P in ARSEGS; parkinsonian symptoms in infancy. 1 Publication
Corresponds to variant rs28934581 [ dbSNP | Ensembl ].
VAR_014028
Natural varianti314 – 3141T → M in ARSEGS; parkinsonian symptoms in infancy. 1 Publication
VAR_014029
Natural varianti337 – 3371R → H in ARSEGS; parkinsonian symptoms in infancy. 1 Publication
Corresponds to variant rs28934580 [ dbSNP | Ensembl ].
VAR_014030
Natural varianti412 – 4121Q → K in ARSEGS; reduced affinity for L-tyrosine. 2 Publications
VAR_014031
Natural varianti494 – 4941T → M in ARSEGS; parkinsonian symptoms in infancy. 1 Publication
Corresponds to variant rs45471299 [ dbSNP | Ensembl ].
VAR_014032
Natural varianti499 – 4991V → M.1 Publication
Corresponds to variant rs1800033 [ dbSNP | Ensembl ].
VAR_014033

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei31 – 6131Missing in isoform 2 and isoform 6. VSP_000544Add
BLAST
Alternative sequencei31 – 344Missing in isoform 1. VSP_000543
Alternative sequencei35 – 6127Missing in isoform 4 and isoform 5. VSP_000541Add
BLAST
Alternative sequencei264 – 35794Missing in isoform 5 and isoform 6. VSP_054338Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti373 – 3731R → H in AAI43615. 1 Publication
Sequence conflicti401 – 4011Y → S in AAA61179. 1 Publication
Sequence conflicti401 – 4011Y → S in CAA28908. 1 Publication
Sequence conflicti401 – 4011Y → S in CAA68472. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M17589 mRNA. Translation: AAA61179.1.
X05290 mRNA. Translation: CAA28908.1.
Y00414 mRNA. Translation: CAA68472.1.
DQ677336 mRNA. Translation: ABG73364.1.
DQ677337 mRNA. Translation: ABG73365.1.
AC132217 Genomic DNA. No translation available.
M24791, M24787, M24789 Genomic DNA. Translation: AAA61173.1. Sequence problems.
CH471158 Genomic DNA. Translation: EAX02493.1.
BC104967 mRNA. Translation: AAI04968.1.
BC143611 mRNA. Translation: AAI43612.1.
BC143614 mRNA. Translation: AAI43615.1.
M24791, M24787 Genomic DNA. Translation: AAA61170.1.
M20911 mRNA. Translation: AAA61167.1.
CCDSiCCDS31338.1. [P07101-2]
CCDS7730.1. [P07101-3]
CCDS7731.1. [P07101-1]
PIRiA30002. WHHUY4.
RefSeqiNP_000351.2. NM_000360.3. [P07101-3]
NP_954986.2. NM_199292.2. [P07101-1]
NP_954987.2. NM_199293.2. [P07101-2]
UniGeneiHs.435609.

Genome annotation databases

EnsembliENST00000333684; ENSP00000328814; ENSG00000180176.
ENST00000352909; ENSP00000325951; ENSG00000180176. [P07101-3]
ENST00000381175; ENSP00000370567; ENSG00000180176. [P07101-2]
ENST00000381178; ENSP00000370571; ENSG00000180176. [P07101-1]
GeneIDi7054.
KEGGihsa:7054.
UCSCiuc001lvp.3. human. [P07101-2]
uc001lvq.3. human. [P07101-1]
uc001lvr.3. human. [P07101-3]
uc010qxj.2. human. [P07101-4]

Polymorphism databases

DMDMi239938945.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Tyrosine hydroxylase entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M17589 mRNA. Translation: AAA61179.1 .
X05290 mRNA. Translation: CAA28908.1 .
Y00414 mRNA. Translation: CAA68472.1 .
DQ677336 mRNA. Translation: ABG73364.1 .
DQ677337 mRNA. Translation: ABG73365.1 .
AC132217 Genomic DNA. No translation available.
M24791 , M24787 , M24789 Genomic DNA. Translation: AAA61173.1 . Sequence problems.
CH471158 Genomic DNA. Translation: EAX02493.1 .
BC104967 mRNA. Translation: AAI04968.1 .
BC143611 mRNA. Translation: AAI43612.1 .
BC143614 mRNA. Translation: AAI43615.1 .
M24791 , M24787 Genomic DNA. Translation: AAA61170.1 .
M20911 mRNA. Translation: AAA61167.1 .
CCDSi CCDS31338.1. [P07101-2 ]
CCDS7730.1. [P07101-3 ]
CCDS7731.1. [P07101-1 ]
PIRi A30002. WHHUY4.
RefSeqi NP_000351.2. NM_000360.3. [P07101-3 ]
NP_954986.2. NM_199292.2. [P07101-1 ]
NP_954987.2. NM_199293.2. [P07101-2 ]
UniGenei Hs.435609.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2XSN X-ray 2.68 A/B/C/D 193-528 [» ]
4J6S X-ray 3.08 E/F/G/H 1-74 [» ]
ProteinModelPortali P07101.
SMRi P07101. Positions 95-528.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112912. 4 interactions.
IntActi P07101. 4 interactions.
MINTi MINT-198913.
STRINGi 9606.ENSP00000370571.

Chemistry

BindingDBi P07101.
ChEMBLi CHEMBL1969.
DrugBanki DB00120. L-Phenylalanine.
DB00135. L-Tyrosine.
DB00765. Metyrosine.
DB00360. Tetrahydrobiopterin.
GuidetoPHARMACOLOGYi 1243.

PTM databases

PhosphoSitei P07101.

Polymorphism databases

DMDMi 239938945.

Proteomic databases

PaxDbi P07101.
PRIDEi P07101.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000333684 ; ENSP00000328814 ; ENSG00000180176 .
ENST00000352909 ; ENSP00000325951 ; ENSG00000180176 . [P07101-3 ]
ENST00000381175 ; ENSP00000370567 ; ENSG00000180176 . [P07101-2 ]
ENST00000381178 ; ENSP00000370571 ; ENSG00000180176 . [P07101-1 ]
GeneIDi 7054.
KEGGi hsa:7054.
UCSCi uc001lvp.3. human. [P07101-2 ]
uc001lvq.3. human. [P07101-1 ]
uc001lvr.3. human. [P07101-3 ]
uc010qxj.2. human. [P07101-4 ]

Organism-specific databases

CTDi 7054.
GeneCardsi GC11M002185.
GeneReviewsi TH.
H-InvDB HIX0035928.
HGNCi HGNC:11782. TH.
HPAi CAB002522.
MIMi 191290. gene.
605407. phenotype.
neXtProti NX_P07101.
Orphaneti 101150. Autosomal recessive dopa-responsive dystonia.
PharmGKBi PA351.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3186.
HOGENOMi HOG000233373.
HOVERGENi HBG006841.
InParanoidi P07101.
KOi K00501.
OMAi ELDKCHH.
PhylomeDBi P07101.
TreeFami TF313327.

Enzyme and pathway databases

UniPathwayi UPA00747 ; UER00733 .
Reactomei REACT_15551. Catecholamine biosynthesis.

Miscellaneous databases

GeneWikii Tyrosine_hydroxylase.
GenomeRNAii 7054.
NextBioi 27583.
PROi P07101.
SOURCEi Search...

Gene expression databases

ArrayExpressi P07101.
Bgeei P07101.
CleanExi HS_TH.
Genevestigatori P07101.

Family and domain databases

Gene3Di 1.10.800.10. 1 hit.
InterProi IPR001273. ArAA_hydroxylase.
IPR018301. ArAA_hydroxylase_Fe/CU_BS.
IPR019774. Aromatic-AA_hydroxylase_C.
IPR005962. Tyr_3_mOase.
IPR019773. Tyrosine_3-monooxygenase-like.
IPR021164. Tyrosine_hydroxylase_CS.
[Graphical view ]
PANTHERi PTHR11473. PTHR11473. 1 hit.
Pfami PF00351. Biopterin_H. 1 hit.
PF12549. TOH_N. 3 hits.
[Graphical view ]
PIRSFi PIRSF000336. TH. 1 hit.
PRINTSi PR00372. FYWHYDRXLASE.
SUPFAMi SSF56534. SSF56534. 1 hit.
TIGRFAMsi TIGR01269. Tyr_3_monoox. 1 hit.
PROSITEi PS00367. BH4_AAA_HYDROXYL_1. 1 hit.
PS51410. BH4_AAA_HYDROXYL_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation of a novel cDNA clone for human tyrosine hydroxylase: alternative RNA splicing produces four kinds of mRNA from a single gene."
    Kaneda N., Kobayashi K., Ichinose H., Kishi F., Nakazawa A., Kurosawa Y., Fujita K., Nagatsu T.
    Biochem. Biophys. Res. Commun. 146:971-975(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
  2. "A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics."
    Grima B., Lamouroux A., Boni C., Julien J.-F., Javoy-Agid F., Mallet J.
    Nature 326:707-711(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
  3. "Isolation of a full-length cDNA clone encoding human tyrosine hydroxylase type 3."
    Kobayashi K., Kaneda N., Ichinose H., Kishi F., Nakazawa A., Kurosawa Y., Fujita K., Nagatsu T.
    Nucleic Acids Res. 15:6733-6733(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  4. "Structure of the human tyrosine hydroxylase gene: alternative splicing from a single gene accounts for generation of four mRNA types."
    Kobayashi K., Kaneda N., Ichinose H., Kishi F., Nakazawa A., Kurosawa Y., Fujita K., Nagatsu T.
    J. Biochem. 103:907-912(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
  5. "Characterisation of novel splicing variants of the tyrosine hydroxylase C-terminal domain in human neuroblastic tumours."
    Roma J., Saus E., Cuadros M., Reventos J., Sanchez de Toledo J., Gallego S.
    Biol. Chem. 388:419-426(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5 AND 6), ALTERNATIVE SPLICING.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4), VARIANT MET-112.
  9. "Analysis of the 5' region of the human tyrosine hydroxylase gene: combinatorial patterns of exon splicing generate multiple regulated tyrosine hydroxylase isoforms."
    le Bourdelles B., Boularand S., Boni C., Horellou P., Dumas S., Grima B., Mallet J.
    J. Neurochem. 50:988-991(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  10. "Expression of human tyrosine hydroxylase cDNA in invertebrate cells using a baculovirus vector."
    Ginns E.I., Rehavi M., Martin B.M., Weller M., O'Malley K.L., Lamarca M.E., McAllister C.G., Paul S.M.
    J. Biol. Chem. 263:7406-7410(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-30.
  11. "Phosphorylation of human recombinant tyrosine hydroxylase isoforms 1 and 2: an additional phosphorylated residue in isoform 2, generated through alternative splicing."
    Le Bourdelles B., Horellou P., Le Caer J.P., Denefle P., Latta M., Haavik J., Guibert B., Mayaux J.F., Mallet J.
    J. Biol. Chem. 266:17124-17130(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-19 AND SER-71.
  12. "A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease."
    Bademci G., Edwards T.L., Torres A.L., Scott W.K., Zuchner S., Martin E.R., Vance J.M., Wang L.
    Hum. Mutat. 31:E1767-E1771(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE INVOLVEMENT IN PARKINSON DISEASE.
  13. "A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome."
    Luedecke B., Dworniczak B., Bartholome K.
    Hum. Genet. 95:123-125(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARSEGS LYS-412.
  14. "Frequent sequence variant in the human tyrosine hydroxylase gene."
    Luedecke B., Bartholome K.
    Hum. Genet. 95:716-716(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MET-112.
  15. "Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene."
    Knappskog P.M., Flatmark T., Mallet J., Luedecke B., Bartholome K.
    Hum. Mol. Genet. 4:1209-1212(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT ARSEGS LYS-412.
  16. "Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene."
    Luedecke B., Knappskog P.M., Clayton P.T., Surtees R.A.H., Clelland J.D., Heales S.J.R., Brand M.P., Bartholome K., Flatmark T.
    Hum. Mol. Genet. 5:1023-1028(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT ARSEGS PRO-236.
  17. "Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease."
    Kunugi H., Kawada Y., Hattori M., Ueki A., Otsuka M., Nanko S.
    Am. J. Med. Genet. 81:131-133(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARSEGS PRO-236, VARIANT MET-112.
  18. "Systematic search for variations in the tyrosine hydroxylase gene and their associations with schizophrenia, affective disorders, and alcoholism."
    Ishiguro H., Arinami T., Saito T., Akazawa S., Enomoto M., Mitushio H., Fujishiro H., Tada K., Akimoto Y., Mifune H., Shiozuka S., Hamaguchi H., Toru M., Shibuya H.
    Am. J. Med. Genet. 81:388-396(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MET-499.
  19. "A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population."
    van den Heuvel L.P.W.J., Luiten B., Smeitink J.A.M., de Rijk-van Andel J.F., Hyland K., Steenbergen-Spanjers G.C.H., Janssen R.J.T., Wevers R.A.
    Hum. Genet. 102:644-646(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARSEGS HIS-233.
  20. Cited for: VARIANT MET-112.
  21. "Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism."
    Swaans R.J.M., Rondot P., Renier W.O., Van Den Heuvel L.P.W.J., Steenbergen-Spanjers G.C.H., Wevers R.A.
    Ann. Hum. Genet. 64:25-31(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARSEGS PRO-276; MET-314; HIS-337 AND MET-494.

Entry informationi

Entry nameiTY3H_HUMAN
AccessioniPrimary (citable) accession number: P07101
Secondary accession number(s): B7ZL70
, B7ZL73, Q0PWM2, Q0PWM3, Q15585, Q15588, Q15589, Q2M3B4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: June 16, 2009
Last modified: September 3, 2014
This is version 169 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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