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Information on EC 2.7.1.14 - sedoheptulokinase and Organism(s) Homo sapiens

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Homo sapiens
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The taxonomic range for the selected organisms is: Homo sapiens
The expected taxonomic range for this enzyme is: Eukaryota, Bacteria
Synonyms
carkl, sedoheptulokinase, carbohydrate kinase-like protein, carkl-encoded protein, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
CARKL
-
-
CARKL-encoded protein
-
-
heptulokinase
-
-
-
-
kinase, sedoheptulo- (phosphorylating)
-
-
-
-
REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
phospho group transfer
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-
-
-
PATHWAY SOURCE
PATHWAYS
SYSTEMATIC NAME
IUBMB Comments
ATP:sedoheptulose 7-phosphotransferase
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CAS REGISTRY NUMBER
COMMENTARY hide
9030-63-1
-
SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
ATP + sedoheptulose
ADP + sedoheptulose 7-phosphate
show the reaction diagram
-
-
-
-
?
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
malfunction
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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
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
SHPK_HUMAN
478
0
51505
Swiss-Prot
other Location (Reliability: 3)
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
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
APPLICATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
medicine
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
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
Manually annotated by BRENDA team
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
Manually annotated by BRENDA team
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
Manually annotated by BRENDA team