Literature summary for 2.7.1.31 extracted from

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 (2017), Mol. Genet. Metab., 121, 80-82 .

Cloned(Commentary)

Cloned (Comment)	Organism
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	Homo sapiens

Cloned (Comment)

Organism

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

Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
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	Homo sapiens

Metals/Ions

Metals/Ions	Comment	Organism	Structure
Mg2+	required	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + D-glycerate	Homo sapiens	-	ADP + phospho-D-glycerate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q8IVS8	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + D-glycerate	-	Homo sapiens	ADP + phospho-D-glycerate	-	?
ATP + D-glycerate	the position of phosphorylation on D-glycerate is not specified in the publication, cf. EC 2.7.1.165	Homo sapiens	ADP + phospho-D-glycerate	-	?

Synonyms

Synonyms	Comment	Organism
D-glycerate kinase	-	Homo sapiens
GLYCTK gene	-	Homo sapiens
More	cf. EC 2.7.1.165	Homo sapiens

General Information

General Information	Comment	Organism
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	Homo sapiens