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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 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
14
Cytoband
q24.3
Chromosome location (bp)
74056847 - 74084492
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Malonate and methylmalonate semialdehyde dehydrogenase involved in the catabolism of valine, thymine, and compounds catabolized by way of beta-alanine, including uracil and cytidine....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
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 a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]...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.
A0A024R6G4 [Target identity:100%; Query identity:100%] Aldehyde dehydrogenase 6 family, member A1, isoform CRA_b; Testicular tissue protein Li 122
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Enzymes ENZYME proteins Oxidoreductases Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM 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:0000062[fatty-acyl-CoA binding] GO:0003723[RNA binding] GO:0004491[methylmalonate-semialdehyde dehydrogenase (acylating) activity] GO:0005654[nucleoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006210[thymine catabolic process] GO:0006573[valine metabolic process] GO:0006574[valine catabolic process] GO:0009083[branched-chain amino acid catabolic process] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0018478[malonate-semialdehyde dehydrogenase (acetylating) activity] GO:0019859[thymine metabolic process] GO:0050873[brown fat cell differentiation] GO:0102662[malonate-semialdehyde dehydrogenase (acetylating, NAD+) activity]
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)
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GO:0004491[methylmalonate-semialdehyde dehydrogenase (acylating) activity] GO:0005654[nucleoplasm] GO:0005739[mitochondrion] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0018478[malonate-semialdehyde dehydrogenase (acetylating) activity]
The Human Protein Atlas project is funded
