HADHB
Summary: This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | MIM:143450 | Ensembl:ENSG00000138029 | HGNC:HGNC:4803 | PA29177 | 2p23.3 |
GO terms in HADHB
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IBA | GO:0003857 | 3-hydroxyacyl-CoA dehydrogenase activity |
| MF | TAS | GO:0003857 | 3-hydroxyacyl-CoA dehydrogenase activity |
| MF | IBA | GO:0003985 | acetyl-CoA C-acetyltransferase activity |
| MF | IBA | GO:0003988 | acetyl-CoA C-acyltransferase activity |
| MF | IBA | GO:0004300 | enoyl-CoA hydratase activity |
| MF | TAS | GO:0004300 | enoyl-CoA hydratase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0016509 | long-chain-3-hydroxyacyl-CoA dehydrogenase activity |
| CC | IBA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | NAS | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005740 | mitochondrial envelope |
| CC | IDA | GO:0005741 | mitochondrial outer membrane |
| CC | IDA | GO:0005743 | mitochondrial inner membrane |
| CC | TAS | GO:0005743 | mitochondrial inner membrane |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | IBA | GO:0005829 | cytosol |
| CC | IDA | GO:0042645 | mitochondrial nucleoid |
| BP | IBA | GO:0006635 | fatty acid beta-oxidation |
| BP | IEA | GO:0006635 | fatty acid beta-oxidation |
| BP | IBA | GO:0006696 | ergosterol biosynthetic process |
Gene expression in normal tissue: HADHB
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HADHB
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP143 | Fatty Acid Beta Oxidation |
| wikipathways | WP3871 | Valproic acid pathway |
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
| smpdb | SMP00051 | Fatty acid Metabolism |
| smpdb | SMP00054 | Fatty Acid Elongation In Mitochondria |
| smpdb | SMP00181 | Ethylmalonic Encephalopathy |
| smpdb | SMP00185 | Glutaric Aciduria Type I |
| smpdb | SMP00235 | Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD Deficiency) |
| smpdb | SMP00481 | Mitochondrial Beta-Oxidation of Medium Chain Saturated Fatty Acids |
| smpdb | SMP00482 | Mitochondrial Beta-Oxidation of Long Chain Saturated Fatty Acids |
| smpdb | SMP00538 | Carnitine palmitoyl transferase deficiency (I) |
| smpdb | SMP00539 | Long chain acyl-CoA dehydrogenase deficiency (LCAD) |
| smpdb | SMP00540 | Very-long-chain acyl coa dehydrogenase deficiency (VLCAD) |
| smpdb | SMP00541 | Carnitine palmitoyl transferase deficiency (II) |
| smpdb | SMP00542 | Medium chain acyl-coa dehydrogenase deficiency (MCAD) |
| smpdb | SMP00544 | Long-chain-3-hydroxyacyl-coa dehydrogenase deficiency (LCHAD) |
| smpdb | SMP00545 | Trifunctional protein deficiency |
| smpdb | SMP00635 | Valproic Acid Metabolism Pathway |
| kegg | hsa00062 | Fatty acid elongation - Homo sapiens (human) |
| kegg | hsa00071 | Fatty acid degradation - Homo sapiens (human) |
| kegg | hsa00280 | Valine, leucine and isoleucine degradation - Homo sapiens (human) |
| humancyc | FAO-PWY | fatty acid β-oxidation |
| humancyc | PWY66-391 | fatty acid β-oxidation (peroxisome) |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1482798 | Acyl chain remodeling of CL |
| reactome | R-HSA-1483206 | Glycerophospholipid biosynthesis |
| reactome | R-HSA-1483257 | Phospholipid metabolism |
| reactome | R-HSA-556833 | Metabolism of lipids |
| reactome | R-HSA-77285 | Beta oxidation of myristoyl-CoA to lauroyl-CoA |
| reactome | R-HSA-77286 | mitochondrial fatty acid beta-oxidation of saturated fatty acids |
| reactome | R-HSA-77288 | mitochondrial fatty acid beta-oxidation of unsaturated fatty acids |
| reactome | R-HSA-77289 | Mitochondrial Fatty Acid Beta-Oxidation |
| reactome | R-HSA-77305 | Beta oxidation of palmitoyl-CoA to myristoyl-CoA |
| reactome | R-HSA-77310 | Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA |
| reactome | R-HSA-77346 | Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA |
| reactome | R-HSA-77348 | Beta oxidation of octanoyl-CoA to hexanoyl-CoA |
| reactome | R-HSA-77350 | Beta oxidation of hexanoyl-CoA to butanoyl-CoA |
| reactome | R-HSA-8978868 | Fatty acid metabolism |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HADHB
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