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Information on EC 2.7.1.31 - glycerate 3-kinase 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 enzyme appears in selected viruses and cellular organisms
Synonyms
glycerate kinase, d-glycerate kinase, glyctk gene, glyctk, glycerate 3-kinase, glyctk2, glycerate-3-kinase, glyctk1, d-glycerate 3-kinase, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
D-glycerate 3-kinase
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D-glycerate kinase
D-glyceric acid kinase
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GK
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glycerate kinase 1
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glycerate kinase 2
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glycerate-3-kinase
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GLYCTK gene
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kinase, glycerate (phosphorylating)
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additional information
cf. EC 2.7.1.165
REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
phospho group transfer
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SYSTEMATIC NAME
IUBMB Comments
ATP:D-glycerate 3-phosphotransferase
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CAS REGISTRY NUMBER
COMMENTARY hide
9026-61-3
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SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
ATP + D-glycerate
ADP + phospho-D-glycerate
show the reaction diagram
NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
ATP + D-glycerate
ADP + phospho-D-glycerate
show the reaction diagram
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?
METALS and IONS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
Mg2+
required
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
-
SwissProt
Manually annotated by BRENDA team
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY hide
GeneOntology No.
LITERATURE
SOURCE
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
malfunction
a mutation in the GLYCTK gene encoding D-glycerate kinase causes glyceric aciduria. D-glyceric aciduria causes a blockage to the glycine cleavage enzyme system (GCS). The mutation S117L, a homozygous missense mutation in aminomethyltransferase (AMT, EC 2.1.2.10), causes nonketotic hyperglycinemia (NKH), but no evidence is found that D-glyceric aciduria would cause nonketotic hyperglycinemia (NKH) as a secondary phenomenon. The AMT p.Arg320His mutation is included as the most common AMT mutation observed in NKH patients and when homozygous, is always observed in a severe phenotype
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
GLCTK_HUMAN
523
0
55253
Swiss-Prot
Mitochondrion (Reliability: 1)
A1LQE8_HUMAN
523
0
55253
TrEMBL
Mitochondrion (Reliability: 1)
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
F483S
naturally occuring mutation, the homozygous mutation c.1448delT, p.Phe483SerfsX2 in the GLYCTK gene causes D-glyceric aciduria, but is not involved in nonketotic hyperglycinemia (NKH) as a secondary phenomenon, the latter is caused by mutations in the AMT gene (EC 2.1.2.10), also harbored by the patient
CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
expressed in Escherichia coli strain D5alpha
gene GLYCTK, located on chromosome 3p21.1, DNA and amino acid sequence determination and analysis. The AMT gene is located on chromosome 3p21.3 and the GLYCTK gene on 3p21.1. The possibility of a microdeletion is considered given the homozygosity for a mutation in both genes in a non-consanguineous family, but a comparative microarray does not identify a copy number variation in any exon of either gene
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Guo, J.H.; Hexige, S.; Chen, L.; Zhou, G.J.; Wang, X.; Jiang, J.M.; Kong, Y.H.; Ji, G.Q.; Wu, C.Q.; Zhao, S.Y.; Yu, L.
Isolation and characterization of the human D-glyceric acidemia related glycerate kinase gene GLYCTK1 and its alternatively splicing variant GLYCTK2
DNA Seq.
17
1-7
2006
Mus musculus, Homo sapiens (Q8IVS8), Homo sapiens
Manually annotated by BRENDA team
Swanson, M.A.; Garcia, S.M.; Spector, E.; Kronquist, K.; Creadon-Swindell, G.; Walter, M.; Christensen, E.; Van Hove, J.L.K.; Sass, J.O.
D-Glyceric aciduria does not cause nonketotic hyperglycinemia a historic co-occurrence
Mol. Genet. Metab.
121
80-82
2017
Homo sapiens (Q8IVS8)
Manually annotated by BRENDA team