InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PSAT1

Summary

InnateDB Protein

IDBP-72640.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PSAT1

Protein Name

phosphoserine aminotransferase 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000317606

InnateDB Gene

IDBG-72636 (PSAT1)

Protein Structure

UniProt Annotation

Function

Catalyzes the reversible conversion of 3- phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4- phosphonooxybutanoate to phosphohydroxythreonine. {ECO:0000250}.

Subcellular Localization

Disease Associations

Phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]: Characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. {ECO:0000269PubMed:17436247}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed at high levels in the brain, liver, kidney and pancreas, and very weakly expressed in the thymus, prostate, testis and colon.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.

Experimentally validated
Total	26 [view]
Protein-Protein	25 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004648	O-phospho-L-serine:2-oxoglutarate aminotransferase activity
GO:0030170	pyridoxal phosphate binding

Biological Process

GO:0006564	L-serine biosynthetic process
GO:0008152	metabolic process
GO:0008615	pyridoxine biosynthetic process
GO:0008652	cellular amino acid biosynthetic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process