KEGG   Homo sapiens (human): 7054
Entry
7054              CDS       T01001                                 
Symbol
TH, DYT14, DYT5b, TYH
Name
(RefSeq) tyrosine hydroxylase
  KO
K00501  tyrosine 3-monooxygenase [EC:1.14.16.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00350  Tyrosine metabolism
hsa00790  Folate biosynthesis
hsa01100  Metabolic pathways
hsa04728  Dopaminergic synapse
hsa04917  Prolactin signaling pathway
hsa05012  Parkinson disease
hsa05030  Cocaine addiction
hsa05031  Amphetamine addiction
hsa05034  Alcoholism
Module
hsa_M00042  Catecholamine biosynthesis, tyrosine => dopamine => noradrenaline => adrenaline
Network
nt06028  Dopamine and serotonin metabolism
nt06463  Parkinson disease
  Element
N01037  Mutation-caused aberrant SNCA to L-DOPA generation
N01530  Dopamine metabolism
Disease
H02557  Dopa-responsive dystonia
Drug target
Metirosine: D00762<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00350 Tyrosine metabolism
    7054 (TH)
  09108 Metabolism of cofactors and vitamins
   00790 Folate biosynthesis
    7054 (TH)
 09150 Organismal Systems
  09152 Endocrine system
   04917 Prolactin signaling pathway
    7054 (TH)
  09156 Nervous system
   04728 Dopaminergic synapse
    7054 (TH)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05012 Parkinson disease
    7054 (TH)
  09165 Substance dependence
   05030 Cocaine addiction
    7054 (TH)
   05031 Amphetamine addiction
    7054 (TH)
   05034 Alcoholism
    7054 (TH)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.16  With reduced pteridine as one donor, and incorporation of one atom of oxygen into the other donor
    1.14.16.2  tyrosine 3-monooxygenase
     7054 (TH)
SSDB
Motif
Pfam: Biopterin_H TH_ACT TOH_N LTP_2
Other DBs
NCBI-GeneID: 7054
NCBI-ProteinID: NP_954986
OMIM: 191290
HGNC: 11782
Ensembl: ENSG00000180176
UniProt: P07101 P78428
Structure
Position
11:complement(2163929..2171815)
AA seq 528 aa
MPTPDATTPQAKGFRRAVSELDAKQAEAIMVRGQGAPGPSLTGSPWPGTAAPAASYTPTP
RSPRFIGRRQSLIEDARKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPR
ATKPSALSRAVKVFETFEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVR
QVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGFSDQVYRQRRKLIAEI
AFQYRHGDPIPRVEYTAEEIATWKEVYTTLKGLYATHACGEHLEAFALLERFSGYREDNI
PQLEDVSRFLKERTGFQLRPVAGLLSARDFLASLAFRVFQCTQYIRHASSPMHSPEPDCC
HELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYG
AGLLSSYGELLHCLSEEPEIRAFDPEAAAVQPYQDQTYQSVYFVSESFSDAKDKLRSYAS
RIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG
NT seq 1587 nt   +upstreamnt  +downstreamnt
atgcccacccccgacgccaccacgccacaggccaagggcttccgcagggccgtgtctgag
ctggacgccaagcaggcagaggccatcatggtaagagggcagggcgccccggggcccagc
ctcacaggctctccgtggcctggaactgcagccccagctgcatcctacacccccacccca
aggtccccgcggttcattgggcgcaggcagagcctcatcgaggacgcccgcaaggagcgg
gaggcggcggtggcagcagcggccgctgcagtcccctcggagcccggggaccccctggag
gctgtggcctttgaggagaaggaggggaaggccgtgctaaacctgctcttctccccgagg
gccaccaagccctcggcgctgtcccgagctgtgaaggtgtttgagacgtttgaagccaaa
atccaccatctagagacccggcccgcccagaggccgcgagctgggggcccccacctggag
tacttcgtgcgcctcgaggtgcgccgaggggacctggccgccctgctcagtggtgtgcgc
caggtgtcagaggacgtgcgcagccccgcggggcccaaggtcccctggttcccaagaaaa
gtgtcagagctggacaagtgtcatcacctggtcaccaagttcgaccctgacctggacttg
gaccacccgggcttctcggaccaggtgtaccgccagcgcaggaagctgattgctgagatc
gccttccagtacaggcacggcgacccgattccccgtgtggagtacaccgccgaggagatt
gccacctggaaggaggtctacaccacgctgaagggcctctacgccacgcacgcctgcggg
gagcacctggaggcctttgctttgctggagcgcttcagcggctaccgggaagacaatatc
ccccagctggaggacgtctcccgcttcctgaaggagcgcacgggcttccagctgcggcct
gtggccggcctgctgtccgcccgggacttcctggccagcctggccttccgcgtgttccag
tgcacccagtatatccgccacgcgtcctcgcccatgcactcccctgagccggactgctgc
cacgagctgctggggcacgtgcccatgctggccgaccgcaccttcgcgcagttctcgcag
gacattggcctggcgtccctgggggcctcggatgaggaaattgagaagctgtccacgctg
tactggttcacggtggagttcgggctgtgtaagcagaacggggaggtgaaggcctatggt
gccgggctgctgtcctcctacggggagctcctgcactgcctgtctgaggagcctgagatt
cgggccttcgaccctgaggctgcggccgtgcagccctaccaagaccagacgtaccagtca
gtctacttcgtgtctgagagcttcagtgacgccaaggacaagctcaggagctatgcctca
cgcatccagcgccccttctccgtgaagttcgacccgtacacgctggccatcgacgtgctg
gacagcccccaggccgtgcggcgctccctggagggtgtccaggatgagctggacaccctt
gcccatgcgctgagtgccattggctag

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (10)   
   KEGG PATHWAY (9)   
   KEGG MODULE (1)   
Network (4)   
   KEGG NETWORK (4)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (1)   
   KEGG DRUG (1)   
Chemical substance (7)   
   KEGG COMPOUND (7)   
Chemical reaction (3)   
   KEGG ENZYME (1)   
   KEGG REACTION (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (8)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (35)   
   RefSeq(nuc) (5)   
   GenBank (15)   
   EMBL (15)   
3D Structure (7)   
   PDB (7)   
Protein domain (4)   
   Pfam (4)   
All databases (101)   

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