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Th Gene Detail
Summary
  • Symbol
    Th
  • Name
    tyrosine hydroxylase
  • Feature Type
    protein coding gene
  • IDs
    MGI:98735
    NCBI Gene: 21823
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:142446516-142453732 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 88.06 cM
  • Mapping Data
    19 experiments
Strain
Comparison
more
  • SNPs within 2kb
    269 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98735
 protein coding gene Chr7:142446489-142484865 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033265
 protein coding gene Chr7:148166952-148206479 (-)
A/J MGP_AJ_G0033248
 protein coding gene Chr7:143868685-143911127 (-)
AKR/J MGP_AKRJ_G0033179
 protein coding gene Chr7:147915346-147955811 (-)
BALB/cJ MGP_BALBcJ_G0033248
 protein coding gene Chr7:143648129-143686741 (-)
C3H/HeJ MGP_C3HHeJ_G0032964
 protein coding gene Chr7:147683279-147723371 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033758
 protein coding gene Chr7:153530125-153569494 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030731
 protein coding gene Chr7:145085740-145122318 (-)
CAST/EiJ MGP_CASTEiJ_G0032286
 protein coding gene Chr7:139979421-140020454 (-)
CBA/J MGP_CBAJ_G0032935
 protein coding gene Chr7:158779022-158829034 (-)
DBA/2J MGP_DBA2J_G0033089
 protein coding gene Chr7:141847578-141886325 (-)
FVB/NJ MGP_FVBNJ_G0033037
 protein coding gene Chr7:141767915-141807103 (-)
LP/J MGP_LPJ_G0033181
 protein coding gene Chr7:149682675-149723824 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033071
 protein coding gene Chr7:159377690-159416999 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033778
 protein coding gene Chr7:146880829-146918679 (-)
PWK/PhJ MGP_PWKPhJ_G0031995
 protein coding gene Chr7:135148749-135187154 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031841
 protein coding gene Chr7:133682351-133721455 (-)
WSB/EiJ MGP_WSBEiJ_G0032398
 protein coding gene Chr7:147882210-147923017 (-)



Homology
more
  • Human Ortholog
    TH, tyrosine hydroxylase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TH, tyrosine hydroxylase
  • Synonyms
    DYT14, DYT5b, TYH
  • Links
    NCBI Gene ID: 7054
    neXtProt AC: NX_P07101
    UniProt: P07101

  • Chr Location
    11p15.5; chr11:2163929-2171815 (-)  GRCh38
  • MGI Vertebrate Homology
    Th stringent orthology
    1 human;1 mouse;1 rat;1 zebrafish
  • HCOP
    vertebrate homology predictions: TH
  • Protein SuperFamily
    TH
  • Gene Tree
    Th
Human Diseases
more
  • Diseases
    5 with human TH associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    39 phenotypes from 11 alleles in 11 genetic backgrounds
    64 phenotypes from multigenic genotypes
    1 images
    244 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    128
  • GO References
    26
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    2498
  • Tissues
    377
  • cDNA Data
    16
  • Literature Summary
    829
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21823 NCBI Gene Model | MGI Sequence Detail 7217 C57BL/6J ±  kb
    transcript NM_009377 RefSeq | MGI Sequence Detail 1809 ZRU/MplStud  
    polypeptide P24529 UniProt | EBI | MGI Sequence Detail 498 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000016301 tyrosine 3-monooxygenase
      (term hierarchy)
    • EC
      1.14.16.2
    • InterPro Domains
      IPR045865 ACT-like domain
      IPR001273 Aromatic amino acid hydroxylase
      IPR019774 Aromatic amino acid hydroxylase, C-terminal
      IPR018301 Aromatic amino acid hydroxylase, iron/copper binding site
      IPR036951 Aromatic amino acid hydroxylase superfamily
      IPR036329 Aromatic amino acid monoxygenase, C-terminal domain superfamily
      IPR005962 Tyrosine 3-monooxygenase
      IPR041903 Tyrosine 3-monooxygenase, catalytic domain
      IPR019773 Tyrosine 3-monooxygenase-like
      IPR049321 Tyrosine 3-monooxygenase-like, ACT domain
      IPR021164 Tyrosine hydroxylase, conserved site
    • GlyGen
      P24529 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 80
      Genomic 23
      cDNA 21
      Primer pair 15
      Other 21

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-15078
    References
    more
    • Summaries
      All 1159
      Developmental Gene Expression 829
      Diseases 1
      Gene Ontology 26
      Phenotypes 244
    • Earliest
      J:304 STEIN KF, et al., Morphology and behavior of Waltzertype mice. J Morphol. 1960 Mar;106:197-203
    • Latest
      J:357469 Sivori M, et al., The pelvic organs receive no parasympathetic innervation. Elife. 2024;15
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory