About   Help   FAQ
Th
Gene Detail
Symbol

Name
ID
Th
tyrosine hydroxylase
MGI:98735
Feature Type
protein coding gene
Genetic Map
Chromosome 7
88.06 cM
Detailed Genetic Map ± 1 cM


Mapping data(19)
Sequence Map
Chr7:142892752-142931128 bp, - strand
From VEGA annotation of GRCm38

  38377 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:307  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: TH
Protein SuperFamily: tyrosine 3-monooxygenase
Gene Tree: Th

Human
homologs
TH, tyrosine hydroxylase
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 7054
neXtProt AC: NX_P07101

Human Synonyms: DYT14, DYT5b, TYH

Human Chr (Location): 11p15.5; chr11:2163929-2172137 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human TH

Mutations,
alleles, and
phenotypes
All mutations/alleles(20) : Targeted(20)
Genomic Mutations involving Th (2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for targeted null mutations are deficient in catecholamines, and usually die around embryonic day 11.5-15.5 due to cardiac failure. Treatment of the pregnant female with dihydroxyphenylalanine prevents prenatal mortality. Mice homozygous for hypomorphic targeted alleles are hypokinetic.
 
Phenotype Images(1)
Interactions
Th interacts with 123 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (71 annotations)
Process aromatic amino acid family metabolic process, catecholamine biosynthetic process, ...
Component axon, cytoplasm, ...
Function amino acid binding, dopamine binding, ...
External Resources: FuncBase
Expression
Literature Summary: (505 records)
Data Summary: Results (792)    Tissues (257)    Images (265)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 399
RNA in situ 332
In situ reporter (knock in) 8
Western blot 17
RT-PCR 36
cDNA source data(13)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA TH ; Xenbase LOC100488900 ; ZFIN th    NEW 
Molecular
reagents
All nucleic(47) Genomic(23) cDNA(15) Primer pair(8) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000018790 (Evidence)
Ensembl Gene Model ENSMUSG00000000214 (Evidence)
Entrez Gene 21823 (Evidence)
UniGene 1292
DFCI TC1589151
DoTS DT.40185345, DT.91579854
NIA Mouse Gene Index U029489
EC 1.14.16.2
Consensus CDS Project CCDS22036.1
International Mouse Phenotyping Consortium Status Th
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018790 VEGA Gene Model | MGI Sequence Detail 38377 C57BL/6J ±  kb
transcript OTTMUST00000045229 VEGA | MGI Sequence Detail 1829 Not Applicable 
polypeptide OTTMUSP00000020341 VEGA | MGI Sequence Detail 498 Not Applicable 

For the selected sequences
All sequences(44) RefSeq(2) UniProt(6)
Polymorphisms
RFLP(4) : SNPs within 2kb(413 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001273 Aromatic amino acid hydroxylase
InterPro IPR019774 Aromatic amino acid hydroxylase, C-terminal
InterPro IPR018301 Aromatic amino acid hydroxylase, iron/copper binding site
InterPro IPR005962 Tyrosine 3-monooxygenase
InterPro IPR019773 Tyrosine 3-monooxygenase-like
InterPro IPR021164 Tyrosine hydroxylase, conserved site
Protein Ontology PR:000016301 tyrosine 3-monooxygenase
References
(Earliest) J:8890 Vadasz C, et al., Genetic determination of mesencephalic tyrosine hydroxylase activity in the mouse. J Neurogenet. 1987 Aug;4(5):241-52
(Latest) J:221342 Anastasaki C, et al., Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning. Hum Mol Genet. 2015 Jun 15;24(12):3518-28
All references(643)
Other
accession IDs
MGD-MRK-15078

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/23/2015
MGI 5.22
The Jackson Laboratory