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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 FDA approved drug targets Human disease related genes 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
4
Cytoband
q25
Chromosome location (bp)
107989714 - 108035241
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10) 1,2,3. Plays a role in the control of insulin secretion by inhibiting the activation of glutamate dehydrogenase 1 (GLUD1), an enzyme that has an important role in regulating amino acid-induced insulin secretion (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase, Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Fatty acid metabolism, Lipid metabolism
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 is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]...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.
Q16836 [Direct mapping] Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
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A0A140VK76 [Target identity:100%; Query identity:100%] Testis secretory sperm-binding protein Li 203a
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Enzymes ENZYME proteins Oxidoreductases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mitochondrial diseases Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0003857[3-hydroxyacyl-CoA dehydrogenase activity] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006635[fatty acid beta-oxidation] GO:0009410[response to xenobiotic stimulus] GO:0009725[response to hormone] GO:0014823[response to activity] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0016740[transferase activity] GO:0032868[response to insulin] GO:0042802[identical protein binding] GO:0046676[negative regulation of insulin secretion] GO:0050796[regulation of insulin secretion] GO:0070403[NAD+ binding] GO:0120162[positive regulation of cold-induced thermogenesis]
A0A0A0MSE2 [Direct mapping] Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
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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 lipid/glycolipid metabolism Mitochondrial diseases Other congenital disorders of metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0005654[nucleoplasm] GO:0005739[mitochondrion] GO:0006631[fatty acid metabolic process] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0070403[NAD+ binding]
E9PF18 [Direct mapping] Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
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Metabolic proteins SCAMPI predicted membrane 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 lipid/glycolipid metabolism Mitochondrial diseases Other congenital disorders of metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0005654[nucleoplasm] GO:0005739[mitochondrion] GO:0006631[fatty acid metabolic process] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0070403[NAD+ binding]
Q16836 [Direct mapping] Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
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Enzymes ENZYME proteins Oxidoreductases Metabolic proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mitochondrial diseases Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0003857[3-hydroxyacyl-CoA dehydrogenase activity] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006635[fatty acid beta-oxidation] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0016740[transferase activity] GO:0042802[identical protein binding] GO:0050796[regulation of insulin secretion] GO:0070403[NAD+ binding] GO:0120162[positive regulation of cold-induced thermogenesis]
A0A0D9SFP2 [Direct mapping] Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mitochondrial diseases Other congenital disorders of metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0005654[nucleoplasm] GO:0005739[mitochondrion] GO:0006631[fatty acid metabolic process] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0070403[NAD+ binding]
A0A1W2PNM1 [Direct mapping] Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mitochondrial diseases Other congenital disorders of metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0005654[nucleoplasm] GO:0005739[mitochondrion] GO:0006631[fatty acid metabolic process] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0070403[NAD+ binding]
A0A1W2PQ78 [Direct mapping] Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mitochondrial diseases Other congenital disorders of metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0006631[fatty acid metabolic process] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor]
A0A804HLB5 [Direct mapping] Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
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Metabolic proteins TMHMM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mitochondrial diseases Other congenital disorders of metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0006631[fatty acid metabolic process] GO:0016491[oxidoreductase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0070403[NAD+ binding]
The Human Protein Atlas project is funded
