PSAT1
entrez
29968
canonical
uniprot
Q9Y617
canonical
ensembl
ENSG00000135069
resolver
ensp
ENSP00000317606
resolver
ensp
ENSP00000365773
resolver
genesymbol
PSAT1
resolver
genesymbol_syn
PSA
resolver
hgnc
HGNC:19129
resolver
uniprot
Q5T7G5
resolver
uniprot
Q5T7G6
resolver
uniprot
Q96AW2
resolver
uniprot
Q9BQ12
resolver
uniprot_entry
SERC_HUMAN
resolver
uniprot_sec
Q5T7G5
resolver
uniprot_sec
Q5T7G6
resolver
uniprot_sec
Q96AW2
resolver
uniprot_sec
Q9BQ12
resolver
activity_regulation
ACTIVITY REGULATION: Phosphoserine transaminase activity is strongly stimulated by increasing the ionic strength. {ECO:0000269|PubMed:36851825}.
uniprot
proteins
amino_acid_sequence
MDAPRQVVNFGPGPAKLPHSVLLEIQKELLDYKGVGISVLEMSHRSSDFAKIINNTENLVRELLAVPDNYKVIFLQGGGCGQFSAVPLNLIGLKAGRCADYVVTGAWSAKAAEEAKKFGTINIVHPKLGSYTKIPDPSTWNLNPDASYVYYCANETVHGVEFDFIPDVKGAVLVCDMSSNFLSKPVDVSKFGVIFAGAQKNVGSAGVTVVIVRDDLLGFALRECPSVLEYKVQAGNSSLYNTPPCFSIYVMGLVLEWIKNNGGAAAMEKLSSIKSQTIYEIIDNSQGFYVCPVEPQNRSKMNIPFRIGNAKGDDALEKRFLDKALELNMLSLKGHRSVGGIRASLYNAVTIEDVQKLAAFMKKFLEMHQL
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:17436247, ECO:0000269|PubMed:32579715, ECO:0000269|PubMed:37627284}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neu-Laxova syndrome 2 (NLS2) [MIM:616038]: A form of Neu-Laxova syndrome, a lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies. These include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears. {ECO:0000269|PubMed:25152457, ECO:0000269|PubMed:31903955, ECO:0000269|PubMed:32579715, ECO:0000269|PubMed:37627284}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.6.1.52
uniprot
proteins
function
FUNCTION: Involved in L-serine biosynthesis via the phosphorylated pathway, a three-step pathway converting the glycolytic intermediate 3-phospho-D-glycerate into L-serine (PubMed:36851825, PubMed:37627284). Catalyzes the second step, that is the pyridoxal 5'-phosphate-dependent transamination of 3-phosphohydroxypyruvate and L-glutamate to O-phosphoserine (OPS) and alpha-ketoglutarate (PubMed:36851825, PubMed:37627284). Acts as an inhibitor of ferroptosis in response to interferon-gamma (IFNG) by promoting GPX4 stability: following phosphorylation by CAMK2A, PSAT1 interacts with GPX4 and provides 2-oxoglutarate to EGLN3, leading to GPX4 hydroxylation and stability (PubMed:40281343). {ECO:0000269|PubMed:12633500, ECO:0000269|PubMed:36851825, ECO:0000269|PubMed:37627284, ECO:0000269|PubMed:40281343}.
uniprot
proteins
mass_dalton
40423
uniprot
proteins
mutagenesis
MUTAGEN 200; /note="K->A: Abolished phosphoserine aminotransferase activity."; /evidence="ECO:0000269|PubMed:40281343"; MUTAGEN 337; /note="S->A: Abolished phosphorylation by CAMK2A and ability to promote GPX4 hydroxylation."; /evidence="ECO:0000269|PubMed:40281343
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 2/3. {ECO:0000269|PubMed:37627284}.
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Ser-337 by CAMK2A in response to interferon-gamma (IFNG), promoting interaction with GPX4 and GPX4 hydroxylation by EGLN3. {ECO:0000269|PubMed:40281343}.
uniprot
proteins
protein_family
Class-V pyridoxal-phosphate-dependent aminotransferase family
uniprot
proteins
protein_family
SerC subfamily
uniprot
proteins
pubmed
12633500
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17436247
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25152457
uniprot
proteins
pubmed
31903955
uniprot
proteins
pubmed
32579715
uniprot
proteins
pubmed
36851825
uniprot
proteins
pubmed
37627284
uniprot
proteins
pubmed
40281343
uniprot
proteins
sequence_length
370
uniprot
proteins