PHGDH
entrez
26227
canonical
uniprot
O43175
canonical
ensembl
ENSG00000092621
resolver
ensp
ENSP00000493175
resolver
ensp
ENSP00000493382
resolver
enst
ENST00000641023
resolver
enst
ENST00000641597
resolver
genesymbol
PHGDH
resolver
genesymbol_syn
PGDH3
resolver
hgnc
HGNC:8923
resolver
uniprot
B2RD08
resolver
uniprot
Q5SZU3
resolver
uniprot
Q9BQ01
resolver
uniprot_entry
SERA_HUMAN
resolver
uniprot_sec
B2RD08
resolver
uniprot_sec
Q5SZU3
resolver
uniprot_sec
Q9BQ01
resolver
amino_acid_sequence
MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKLQVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMGTELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLCDFITVHTPLLPSTTGLLNDNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVISCPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVVNAQALTSAFSPHTKPWIGLAEALGTLMRAWAGSPKGTIQVITQGTSLKNAGNCLSPAVIVGLLKEASKQADVNLVNAKLLVKEAGLNVTTSHSPAAPGEQGFGECLLAVALAGAPYQAVGLVQGTTPVLQGLNGAVFRPEVPLRRDLPLLLFRTQTSDPAMLPTMIGLLAEAGVRLLSYQTSLVSDGETWHVMGISSLLPSLEAWKQHVTEAFQFHF
uniprot
proteins
disease_involvement
DISEASE: Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]: An autosomal recessive inborn error of L-serine biosynthesis, clinically characterized by congenital microcephaly, psychomotor retardation, and seizures. {ECO:0000269|PubMed:11055895, ECO:0000269|PubMed:19235232}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neu-Laxova syndrome 1 (NLS1) [MIM:256520]: 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 including 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:24836451}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.37
uniprot
proteins
ec_number
1.1.1.399
uniprot
proteins
ec_number
1.1.1.95
uniprot
proteins
function
FUNCTION: Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate. {ECO:0000269|PubMed:11751922, ECO:0000269|PubMed:25406093}.
uniprot
proteins
mass_dalton
56651
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 1/3.
uniprot
proteins
protein_family
D-isomer specific 2-hydroxyacid dehydrogenase family
uniprot
proteins
pubmed
10713460
uniprot
proteins
pubmed
11055895
uniprot
proteins
pubmed
11751922
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16949628
uniprot
proteins
pubmed
18378410
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19235232
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24836451
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25406093
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
533
uniprot
proteins