2.7.1.14: sedoheptulokinase
This is an abbreviated version!
For detailed information about sedoheptulokinase, go to the full flat file.
Word Map on EC 2.7.1.14
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2.7.1.14
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pentose
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cystinosis
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nephropathic
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erythritol
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medicine
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cystine
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sedoheptulose-7-phosphate
- 2.7.1.14
- pentose
- cystinosis
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nephropathic
- erythritol
- medicine
- cystine
- sedoheptulose-7-phosphate
Reaction
Synonyms
carbohydrate kinase-like protein, CARKL, CARKL-encoded protein, heptulokinase, kinase, sedoheptulo- (phosphorylating), SHK, SHPK
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Reference
Reference on EC 2.7.1.14 - sedoheptulokinase
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Ebata, M.; Sato, R.; Bak, T.
The enzymatic phosphorylation of sedoheptulose
J. Biochem.
42
715-725
1955
Bacillus sp. (in: Bacteria), Bacillus sp. (in: Bacteria) W-2
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Kardon, T.; Stroobant, V.; Veiga-da-Cunha, M.; Schaftingen, E.V.
Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency
FEBS Lett.
582
3330-3334
2008
Mus musculus (Q9D5J6), Mus musculus
Wamelink, M.M.; Struys, E.A.; Jansen, E.E.; Levtchenko, E.N.; Zijlstra, F.S.; Engelke, U.; Blom, H.J.; Jakobs, C.; Wevers, R.A.
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene
Hum. Mutat.
29
532-536
2008
Homo sapiens
Haschemi, A.; Kosma, P.; Gille, L.; Evans, C.R.; Burant, C.F.; Starkl, P.; Knapp, B.; Haas, R.; Schmid, J.A.; Jandl, C.; Amir, S.; Lubec, G.; Park, J.; Esterbauer, H.; Bilban, M.; Brizuela, L.; Pospisilik, J.A.; Otterbein, L.E.; Wagner, O.
The sedoheptulose kinase CARKL directs macrophage polarization through control of glucose metabolism
Cell Metab.
15
813-826
2012
Mus musculus
Wamelink, M.M.; Struys, E.A.; Jansen, E.E.; Blom, H.J.; Vilboux, T.; Gahl, W.A.; Koemhoff, M.; Jakobs, C.; Levtchenko, E.N.
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening
Mol. Genet. Metab.
102
339-342
2011
Homo sapiens
Wamelink, M.M.; Ramos, R.J.; van den Elzen, A.P.; Ruijter, G.J.; Bonte, R.; Diogo, L.; Garcia, P.; Neves, N.; Nota, B.; Haschemi, A.; Tavares de Almeida, I.; Salomons, G.S.
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
J. Inherit. Metab. Dis.
38
889-894
2015
Homo sapiens (Q9UHJ6), Homo sapiens
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