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Information on EC 2.7.1.14 - sedoheptulokinase
for references in articles please use BRENDA:EC2.7.1.14
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EC Tree 2 Transferases
2.7 Transferring phosphorus-containing groups
2.7.1 Phosphotransferases with an alcohol group as acceptor
2.7.1.14 sedoheptulokinase
The expected taxonomic range for this enzyme is: Eukaryota, Bacteria
- 2.7.1.14
- pentose
- cystinosis
-
nephropathic
- erythritol
- medicine
- cystine
- sedoheptulose-7-phosphate
showSynonyms
carkl, sedoheptulokinase, carbohydrate kinase-like protein, carkl-encoded protein, more
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SYNONYM 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
CARKL
heptulokinase
-
-
-
-
kinase, sedoheptulo- (phosphorylating)
-
-
-
-
SHPK
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REACTION
REACTION DIAGRAM
COMMENTARY
ORGANISM
UNIPROT
LITERATURE
ATP + sedoheptulose = ADP + sedoheptulose 7-phosphate
-
-
-
-
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
phospho group transfer
-
-
-
-
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PATHWAY SOURCE
PATHWAYS
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SYSTEMATIC NAME
IUBMB Comments
ATP:sedoheptulose 7-phosphotransferase
-
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CAS REGISTRY NUMBER
COMMENTARY
9030-63-1
-
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SUBSTRATE
PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
LITERATURE
COMMENTARY
Reversibility
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
ATP + sedoheptulose
ADP + sedoheptulose 7-phosphate
Substrates: -
Products: -
Products: -
?
ATP + sedoheptulose
ADP + sedoheptulose 7-phosphate
-
Substrates: -
Products: -
Products: -
?
ATP + sedoheptulose
ADP + sedoheptulose 7-phosphate
-
Substrates: -
Products: -
Products: -
?
ATP + sedoheptulose
ADP + sedoheptulose 7-phosphate
Substrates: -
Products: -
Products: -
?
ATP + sedoheptulose
ADP + sedoheptulose monophosphate
-
Substrates: -
Products: -
Products: -
?
ATP + sedoheptulose
ADP + sedoheptulose monophosphate
-
Substrates: -
Products: -
Products: -
?
additional information
?
-
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: -
Products: -
?
additional information
?
-
-
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: -
Products: -
?
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NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
LITERATURE
COMMENTARY
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
ATP + sedoheptulose
ADP + sedoheptulose 7-phosphate
Substrates: -
Products: -
Products: -
?
ATP + sedoheptulose
ADP + sedoheptulose monophosphate
-
Substrates: -
Products: -
Products: -
?
ATP + sedoheptulose
ADP + sedoheptulose monophosphate
-
Substrates: -
Products: -
Products: -
?
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METALS and IONS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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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
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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.
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.
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.
sedoheptulokinase deficiency
Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency.
sedoheptulokinase deficiency
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
sedoheptulokinase deficiency
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
Starvation
Effects of phosphate limitation on expression of genes involved in pyrimidine synthesis and salvaging in Arabidopsis.
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KM VALUE [mM]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
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TURNOVER NUMBER [1/s]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
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SPECIFIC ACTIVITY [µmol/min/mg]
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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pH OPTIMUM
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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TEMPERATURE OPTIMUM
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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ORGANISM
COMMENTARY
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
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SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
SOURCE
Highest Expressing Human Cell Lines
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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
physiological function
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
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
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UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable).
The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). SHPK_HUMAN
478
0
51505
Swiss-Prot
other Location (Reliability: 3)
SHPK_MOUSE
476
0
51303
Swiss-Prot
other Location (Reliability: 4)
F0SK46_RUBBR
Rubinisphaera brasiliensis (strain ATCC 49424 / DSM 5305 / JCM 21570 / IAM 15109 / NBRC 103401 / IFAM 1448)
476
0
51006
TrEMBL
-
A0A060RP00_PLARE
537
1
63362
TrEMBL
Secretory Pathway (Reliability: 1)
A0A6J8DPF4_MYTCO
471
0
51720
TrEMBL
other Location (Reliability: 2)
Q0IH30_XENLA
466
0
50707
TrEMBL
other Location (Reliability: 2)
A0A7R8CZC1_LEPSM
476
0
53501
TrEMBL
other Location (Reliability: 2)
B0BMP8_XENTR
467
0
50644
TrEMBL
other Location (Reliability: 1)
A0A8B6F311_MYTGA
508
0
55928
TrEMBL
other Location (Reliability: 2)
A0A812CDJ4_SEPPH
364
2
40778
TrEMBL
other Location (Reliability: 2)
A0A812DB94_SEPPH
236
0
25888
TrEMBL
other Location (Reliability: 4)
A0A170V5I8_TRIIF
155
0
16969
TrEMBL
other Location (Reliability: 2)
A0A6M3U8C5_STIJA
466
0
50534
TrEMBL
Mitochondrion (Reliability: 4)
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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
E71X
mutation identified in a patient with an isolated sedoheptulokinase deficiency, predicted to result in truncated nonfunctional proteins
R119X
mutation identified in a patient with an isolated sedoheptulokinase deficiency, predicted to result in truncated nonfunctional proteins
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PURIFICATION (Commentary)
ORGANISM
UNIPROT
LITERATURE
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CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
expression in Escherichia coli as a N-terminal fusion protein with a polyHis tag
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EXPRESSION
ORGANISM
UNIPROT
LITERATURE
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APPLICATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
medicine
medicine
-
sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose
medicine
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
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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.
42
715-725
1955
Bacillus sp. (in: Bacteria), Bacillus sp. (in: Bacteria) 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
brenda
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
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.
15
813-826
2012
Mus musculus
brenda
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
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.
38
889-894
2015
Homo sapiens (Q9UHJ6), Homo sapiens
brenda
Sun, L.; Zhou, F.; Shao, Y.; Lv, Z.; Li, C.
Sedoheptulose kinase bridges the pentose phosphate pathway and immune responses in pathogen-challenged sea cucumber Apostichopus japonicus
Dev. Comp. Immunol.
109
103694
2020
Apostichopus japonicus (A0A6M3U8C5), Apostichopus japonicus
brenda
EXTERNAL LINKS (specific for EC-Number 2.7.1.14)
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Release 2023.1 (January 2023)
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