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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Plasma proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
p12
Chromosome location (bp)
119648411 - 119744218
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Amino-acid biosynthesis, Serine biosynthesis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
NAD
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0004617[phosphoglycerate dehydrogenase activity] GO:0006564[L-serine biosynthetic process] GO:0008652[cellular amino acid biosynthetic process] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0051287[NAD binding]
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004617[phosphoglycerate dehydrogenase activity] GO:0005829[cytosol] GO:0006541[glutamine metabolic process] GO:0006544[glycine metabolic process] GO:0006563[L-serine metabolic process] GO:0006564[L-serine biosynthetic process] GO:0006566[threonine metabolic process] GO:0007420[brain development] GO:0008652[cellular amino acid biosynthetic process] GO:0009055[electron transfer activity] GO:0009448[gamma-aminobutyric acid metabolic process] GO:0010468[regulation of gene expression] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0019530[taurine metabolic process] GO:0021510[spinal cord development] GO:0021782[glial cell development] GO:0021915[neural tube development] GO:0022008[neurogenesis] GO:0022900[electron transport chain] GO:0030060[L-malate dehydrogenase activity] GO:0031175[neuron projection development] GO:0051287[NAD binding] GO:0070062[extracellular exosome] GO:0070314[G1 to G0 transition]
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0006564[L-serine biosynthetic process] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0051287[NAD binding]
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0051287[NAD binding]
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0051287[NAD binding]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004617[phosphoglycerate dehydrogenase activity] GO:0005829[cytosol] GO:0006564[L-serine biosynthetic process] GO:0007420[brain development] GO:0008652[cellular amino acid biosynthetic process] GO:0009055[electron transfer activity] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0022900[electron transport chain] GO:0030060[L-malate dehydrogenase activity] GO:0051287[NAD binding] GO:0070062[extracellular exosome]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0051287[NAD binding]
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0051287[NAD binding]
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004617[phosphoglycerate dehydrogenase activity] GO:0006564[L-serine biosynthetic process] GO:0008652[cellular amino acid biosynthetic process] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0051287[NAD binding]
The Human Protein Atlas project is funded
