Information on EC 2.7.1.14 - sedoheptulokinase

Substrates: no activity with 2,7-sedoheptulosan, fructose, glucose, galactose (tested at up to 50 mM), erythritol and D-erythrose (tested at up to 10 mM)
Products: -

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NATURAL SUBSTRATE

NATURAL PRODUCT

REACTION DIAGRAM

ORGANISM

UNIPROT

LITERATURE

COMMENTARY

REVERSIBILITY
r=reversible
ir=irreversible
?=not specified

ATP + sedoheptulose

ADP + sedoheptulose 7-phosphate

Apostichopus japonicus

A0A6M3U8C5

Substrates: -
Products: -

ATP + sedoheptulose

ADP + sedoheptulose monophosphate

2 entries

ATP + sedoheptulose

ADP + sedoheptulose monophosphate

Substrates: -
Products: -

ATP + sedoheptulose

ADP + sedoheptulose monophosphate

Bacillus sp. (in: firmicutes) W-2

Substrates: -
Products: -

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METALS and IONS

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

Mg2+

required, optimum concentration: 0.01 M

Mn2+

can partially replace Mg2+ in activation

show all columns Go to Inhibitor Search

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INHIBITOR

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

IMAGE

Alloxane

inhibits above 1 mM, activity restored if cysteine is added at the same concentration

CuSO4

95% inhibition at 10 mM

iodoacetate

60% inhibition at 10 mM

NaF

28% inhibition at 1 mM

NaN3

80% inhibition at 10 mM

Go to Disease Search

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DISEASE

TITLE OF PUBLICATION

LINK TO PUBMED

Cystinosis

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.

18186520

Cystinosis

The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.

10673275

Cystinosis

The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.

11505338

sedoheptulokinase deficiency

Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency.

18775706

sedoheptulokinase deficiency

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

25647543

sedoheptulokinase deficiency

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.

18186520

Starvation

Effects of phosphate limitation on expression of genes involved in pyrimidine synthesis and salvaging in Arabidopsis.

15820655

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KM VALUE [mM]

SUBSTRATE

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

IMAGE

0.19

sedoheptulose

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TURNOVER NUMBER [1/s]

SUBSTRATE

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

IMAGE

115

sedoheptulose

show all columns Go to Specific Activity Search

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SPECIFIC ACTIVITY [µmol/min/mg]

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

128

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pH OPTIMUM

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

6.4

and a smaller maximum at pH 9.0

7.6

assay at

and a larger maximum at pH 6.4

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TEMPERATURE OPTIMUM

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

assay at

assay at

show all columns Go to Organism Search

only manually annotated data include textmining data from AMENDAenzyme occurrence in organism, localization and source tissue with reliability ranks include all textmining data from AMENDAenzyme occurrence in organism, localization and source tissue with reliability ranks + FRENDAco-occurrence of enzyme names and organism names (less precise)

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ORGANISM

COMMENTARY

LITERATURE

UNIPROT

SEQUENCE DB

SOURCE

Apostichopus japonicus

A0A6M3U8C5

UniProt

brenda

brenda

Bacillus sp. (in: firmicutes) W-2

brenda

brenda

UniProt

brenda

Q9D5J6

SwissProt

brenda

brenda

show all columns Go to Source Tissue Search

only manually annotated data include textmining data from AMENDAenzyme occurrence in organism, localization and source tissue with reliability ranks

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SOURCE TISSUE

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

SOURCE

brenda

brenda

Highest Expressing Human Cell Lines

Filter by:

Cell Line Links

Gene Links

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GENERAL INFORMATION

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

malfunction

cystinosis is caused by mutations in CTNS. The most prevalent CTNS mutation is a homozygous 57-kb deletion. This 57-kb deletion encompasses not only the CTNS gene but also the adjacent gene, CARKL. Patients with this deletion have elevated urinary concentrations of sedoheptulose

723197

physiological function

2 entries

physiological function

using a screening strategy novel regulators of macrophage activation are identified. CARKL-dependent metabolic reprogramming is required for proper M1- and M2- like macrophage polarization and uncovers a ratelimiting requirement for appropriate glucose flux in macrophage polarization

physiological function

Apostichopus japonicus

A0A6M3U8C5

the enzyme can influence the production of reactive oxygen species, cell proliferation, cell phagocytosis, and polarization of macrophages in Apostichopus japonicus by regulating the flux of the pentose phosphate pathway, thereby affecting the immune response of Apostichopus japonicus

Go to AA Sequence and Transmembrane Helices SearchGo to Localization Prediction

Show AA Sequence and Transmembrane Helices (906 entries)
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PROTEIN VARIANTS

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

E71X

Q9UHJ6

mutation identified in a patient with an isolated sedoheptulokinase deficiency, predicted to result in truncated nonfunctional proteins

R119X

Q9UHJ6

mutation identified in a patient with an isolated sedoheptulokinase deficiency, predicted to result in truncated nonfunctional proteins

Q126K

mutant shows substantially reduced sedoheptulose kinase activity

T14M/T15K

mutant shows substantially reduced sedoheptulose kinase activity

W125D

mutant shows substantially reduced sedoheptulose kinase activity

Go to Purification (commentary) Search

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PURIFICATION (Commentary)

ORGANISM

UNIPROT

LITERATURE

Go to Cloned (commentary) Search

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CLONED (Commentary)

ORGANISM

UNIPROT

LITERATURE

expression in Escherichia coli as a N-terminal fusion protein with a polyHis tag

Q9D5J6

recombinantly expressed in Escherichia coli

Go to Expression Search

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EXPRESSION

ORGANISM

UNIPROT

LITERATURE

rapidly downregulated in vitro and in vivo upon lipopolysaccharide

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APPLICATION

ORGANISM

UNIPROT

COMMENTARY

LITERATURE

medicine

2 entries

medicine

sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose

687042

medicine

Q9UHJ6

patient with an isolated sedoheptulokinase deficiency presents with neonatal cholestasis, hypoglycemia, and anemia, while a second patient presents with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Both patients have elevated excretion of erythritol and sedoheptulose, and each has a homozygous nonsense mutation in sedoheptulokinase. In fibroblasts from patient 1, strongly reduced formation of sedoheptulose 7-phosphate is detected, but no mature enzyme. It is questionable whether enzyme deficiency is a causal factor for the clinical phenotypes of the patients

top print hide References Search

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REF.

AUTHORS

TITLE

JOURNAL

VOL.

PAGES

YEAR

ORGANISM (UNIPROT)

PUBMED ID

SOURCE

Ebata, M.; Sato, R.; Bak, T.

The enzymatic phosphorylation of sedoheptulose

J. Biochem.

715-725

1955

Bacillus sp. (in: firmicutes), Bacillus sp. (in: firmicutes) W-2

brenda

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

18775706

brenda

687042

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.

532-536

2008

Homo sapiens

18186520

brenda

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.

813-826

2012

Mus musculus

22682222

brenda

723197

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

21195649

brenda

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.

889-894

2015

Homo sapiens (Q9UHJ6), Homo sapiens

25647543

brenda