Homo sapiens (human): 7054
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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)
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Paralog
Gene cluster
GFIT
Motif
Pfam:
Biopterin_H
TOH_N
Motif
Other DBs
NCBI-GeneID:
7054
NCBI-ProteinID:
NP_954986
OMIM:
191290
HGNC:
11782
Ensembl:
ENSG00000180176
UniProt:
P07101
P78428
Structure
PDB
LinkDB
All DBs
Position
11:complement(2163929..2171815)
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AA seq
528 aa
AA seq
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MPTPDATTPQAKGFRRAVSELDAKQAEAIMVRGQGAPGPSLTGSPWPGTAAPAASYTPTP
RSPRFIGRRQSLIEDARKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPR
ATKPSALSRAVKVFETFEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVR
QVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGFSDQVYRQRRKLIAEI
AFQYRHGDPIPRVEYTAEEIATWKEVYTTLKGLYATHACGEHLEAFALLERFSGYREDNI
PQLEDVSRFLKERTGFQLRPVAGLLSARDFLASLAFRVFQCTQYIRHASSPMHSPEPDCC
HELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYG
AGLLSSYGELLHCLSEEPEIRAFDPEAAAVQPYQDQTYQSVYFVSESFSDAKDKLRSYAS
RIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG
NT seq
1587 nt
NT seq
+upstream
nt +downstream
nt
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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