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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).
Enzymes Metabolic proteins
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
5
Cytoband
p13.2
Chromosome location (bp)
34998101 - 35048135
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Multifunctional aminotransferase with a broad substrate specifcity 1,2,3. Catalyzes the conversion of glyoxylate to glycine using alanine as the amino donor (By similarity). Catalyzes metabolism of not L-but the D-isomer of D-beta-aminoisobutyric acid to generate 2-methyl-3-oxopropanoate and alanine 4. Catalyzes the transfer of the amino group from beta-alanine to pyruvate to yield L-alanine and 3-oxopropanoate (By similarity). Can metabolize NG-monomethyl-L-arginine (NMMA), asymmetric NG,NG-dimethyl-L-arginine (ADMA) and symmetric NG,N'G-dimethyl-L-arginine (SDMA) 5,6. ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure 7,8....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Aminotransferase, Transferase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Pyridoxal phosphate
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]...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.
Enzymes ENZYME proteins Transferases Metabolic proteins MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0003824[catalytic activity] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0008453[alanine-glyoxylate transaminase activity] GO:0008483[transaminase activity] GO:0009436[glyoxylate catabolic process] GO:0016740[transferase activity] GO:0019265[glycine biosynthetic process, by transamination of glyoxylate] GO:0019481[L-alanine catabolic process, by transamination] GO:0030170[pyridoxal phosphate binding] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0047305[(R)-3-amino-2-methylpropionate-pyruvate transaminase activity]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0003824[catalytic activity] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0008453[alanine-glyoxylate transaminase activity] GO:0008483[transaminase activity] GO:0009436[glyoxylate catabolic process] GO:0016740[transferase activity] GO:0019265[glycine biosynthetic process, by transamination of glyoxylate] GO:0019481[L-alanine catabolic process, by transamination] GO:0030170[pyridoxal phosphate binding] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0047305[(R)-3-amino-2-methylpropionate-pyruvate transaminase activity]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0003824[catalytic activity] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0008453[alanine-glyoxylate transaminase activity] GO:0008483[transaminase activity] GO:0009436[glyoxylate catabolic process] GO:0016740[transferase activity] GO:0019265[glycine biosynthetic process, by transamination of glyoxylate] GO:0019481[L-alanine catabolic process, by transamination] GO:0030170[pyridoxal phosphate binding] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0047305[(R)-3-amino-2-methylpropionate-pyruvate transaminase activity]
The Human Protein Atlas project is funded
