SERA_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
PHGDH
, PGDH3
Protein names and data:
SERA_HUMAN
, D-3-phosphoglycerate dehydrogenase; 3-PGDH; 1.1.1.95
Lenght: 533 a.a.
Mass: 56651 Da
fasta formatted sequence
Catalytic activity:
3-phospho-D-glycerate + NAD(+) = 3- phosphonooxypyruvate + NADH. 2-hydroxyglutarate + NAD(+) = 2-oxoglutarate + NADH.
Pathway:
Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 1/3.
Disease:
( OMIM:
601815
606879
)
Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]: Characterized by congenital microcephaly, psychomotor retardation, and seizures. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
135 - 135
R -> W (in PHGDH deficiency; results in a 2-fold decrease in enzyme activity with 3-phosphohydroxypyruvate, but no change in substrate affinity). VAR_059026
261 - 261
V -> M (in PHGDH deficiency; results in a four-fold decrease in substrate affinity and a slight increase in maximal enzyme activity with 3-phosphohydroxypyruvate). VAR_059027
373 - 373
A -> T (in PHGDH deficiency; results in almost undetectable enzyme activity with 3-phosphohydroxypyruvate). VAR_059028
377 - 377
G -> S (in PHGDH deficiency; results in a 2-fold decrease in enzyme activity with 3-phosphohydroxypyruvate, but no change in substrate affinity). VAR_059029
425 - 425
V -> M (in PHGDH deficiency; results in almost undetectable enzyme activity with 3-phosphohydroxypyruvate). VAR_013461
490 - 490
V -> M (in PHGDH deficiency; results in almost undetectable enzyme activity with 3-phosphohydroxypyruvate; dbSNP:rs121907987). VAR_059030
121907987
Database cross-references
UniProt:
O43175
Ensembl:
ENST00000369409
MIM:
601815
MIM:
606879
neXtProt:
NX_O43175
Antibodypedia:
O43175
(may not find the protein thus also not any antibody)
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