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P07101

- TY3H_HUMAN

UniProt

P07101 - TY3H_HUMAN

Protein

Tyrosine 3-monooxygenase

Gene

TH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 170 (01 Oct 2014)
      Sequence version 5 (16 Jun 2009)
      Previous versions | rss
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    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 – 3611IronBy similarity
    Metal bindingi366 – 3661IronBy similarity
    Metal bindingi406 – 4061IronBy 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

    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

    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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 1 Publication
    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. 1 Publication
    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 – 11RemovedBy similarity
    Chaini2 – 528527Tyrosine 3-monooxygenasePRO_0000205561Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei19 – 191Phosphoserine; by CaMK21 Publication
    Modified residuei62 – 621PhosphoserineBy 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.
    ModBaseiSearch...
    MobiDBiSearch...

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti373 – 3731R → H in AAI43615. (PubMed:15489334)Curated
    Sequence conflicti401 – 4011Y → S in AAA61179. (PubMed:2887169)Curated
    Sequence conflicti401 – 4011Y → S in CAA28908. (PubMed:2882428)Curated
    Sequence conflicti401 – 4011Y → S in CAA68472. (PubMed:2888085)Curated

    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. 1 Publication
    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. 1 Publication
    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. 3 PublicationsVSP_000544Add
    BLAST
    Alternative sequencei31 – 344Missing in isoform 1. 1 PublicationVSP_000543
    Alternative sequencei35 – 6127Missing in isoform 4 and isoform 5. 2 PublicationsVSP_000541Add
    BLAST
    Alternative sequencei264 – 35794Missing in isoform 5 and isoform 6. 1 PublicationVSP_054338Add
    BLAST

    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. [P07101-5]
    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 . [P07101-5 ]
    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

    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: October 1, 2014
    This is version 170 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