3e77
Human phosphoserine aminotransferase in complex with PLPHuman phosphoserine aminotransferase in complex with PLP
DiseaseDisease
[SERC_HUMAN] Defects in PSAT1 are the cause of phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]. PSATD is characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation.[1]
FunctionFunction
[SERC_HUMAN] Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine (By similarity).
About this StructureAbout this Structure
3e77 is a 3 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E. Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Am J Hum Genet. 2007 May;80(5):931-7. Epub 2007 Mar 30. PMID:17436247 doi:S0002-9297(07)60948-3
Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)
OCACategories:
- Homo sapiens
- Phosphoserine transaminase
- Andersson, J.
- Arrowsmith, C H.
- Berg, S Van Den.
- Berglund, H.
- Bountra, C.
- Collins, R.
- Dahlgren, L G.
- Edwards, A M.
- Flodin, S.
- Flores, A.
- Graslund, S.
- Hammarstrom, M.
- Johansson, A.
- Johansson, I.
- Karlberg, T.
- Kotenyova, T.
- Lehtio, L.
- Moche, M.
- Nilsson, M E.
- Nordlund, P.
- Nyman, T.
- Olesen, K.
- Persson, C.
- SGC, Structural Genomics Consortium.
- Sagemark, J.
- Schueler, H.
- Thorsell, S G.
- Tresaugues, L.
- Weigelt, J.
- Welin, M.
- Wikstrom, M.
- Wisniewska, M.
- Amino-acid biosynthesis
- Aminotransferase
- Disease mutation
- Phosphoserine aminotransferase
- Plp
- Pyridoxal phosphate
- Serc
- Serine biosynthesis
- Sgc
- Structural genomic
- Structural genomics consortium
- Transferase