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Tkt Gene Detail
Summary
  • Symbol
    Tkt
  • Name
    transketolase
  • Synonyms
    p68
  • Feature Type
    protein coding gene
  • IDs
    MGI:105992
    NCBI Gene: 21881
Location & Maps
more
  • Sequence Map
    Chr14:30548359-30574722 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      26364 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 18.79 cM, cytoband B1
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    TKT, transketolase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TKT, transketolase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HEL107, HEL-S-48, SDDHD, TK, TKT1
  • Links
    NCBI Gene ID: 7086
    neXtProt AC: NX_P29401

  • Chr Location
    3p14.3; chr3:53224707-53256114 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with human TKT associations

Human Disease Mouse Models
       Short Stature, Developmental Delay, and Congenital Heart Defects;   OMIM: 617044
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    10 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.
  • All Mutations and Alleles
    36
  • Gene trapped
    32
  • Targeted
    4
  • Incidental Mutations
    Mutagenetix , APF
Homozygotes for a targeted null mutation die at or before the morula stage. Heterozygotes show reduced growth, decreased fat accumulation, microphthalmia, and reduced female fertility.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    26
  • GO References
    6
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
    181
  • Tissues
    152
  • cDNA Data
    493
  • Literature Summary
    7
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035018 VEGA Gene Model | MGI Sequence Detail 26364 C57BL/6J ±  kb
transcript OTTMUST00000089041 VEGA | MGI Sequence Detail 3225 Not Applicable  
polypeptide OTTMUSP00000048606 VEGA | MGI Sequence Detail 623 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    243 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000016369 transketolase
  • EC
    2.2.1.1
  • InterPro Domains
    IPR029061 Thiamin diphosphate-binding fold
    IPR020826 Transketolase binding site
    IPR033248 Transketolase, C-terminal domain
    IPR009014 Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II
    IPR033247 Transketolase family
    IPR005475 Transketolase-like, pyrimidine-binding domain
    IPR005474 Transketolase, N-terminal
Molecular
Reagents
less
  • All nucleic 496
    Genomic 1
    cDNA 493
    Primer pair 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-33672
References
more
  • Summaries
    All 45
    Developmental Gene Expression 7
    Gene Ontology 6
    Phenotypes 10
  • Earliest
    J:31736 Schimmer BP, et al., Amplification of the transketolase gene in desensitization-resistant mutant Y1 mouse adrenocortical tumor cells. J Biol Chem. 1996 Mar 1;271(9):4993-8
  • Latest
    J:220406 Ishihara K, et al., Comparative proteomic profiling reveals aberrant cell proliferation in the brain of embryonic Ts1Cje, a mouse model of Down syndrome. Neuroscience. 2014 Sep 28;281C:1-15
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/13/2016
MGI 6.05 		The Jackson Laboratory