Homo sapiens Gene: HADHB | |||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||
InnateDB Gene | IDBG-35294.6 | ||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||
Gene Symbol | HADHB | ||||||||||||||||||||||||||
Gene Name | hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit | ||||||||||||||||||||||||||
Synonyms | ECHB; MTPB; TP-BETA | ||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||
Ensembl Gene | ENSG00000138029 | ||||||||||||||||||||||||||
Encoded Proteins |
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
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Protein Structure | |||||||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||||
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. Mutations in this gene result in trifunctional protein deficiency. 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. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008] 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] |
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Gene Information | |||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||
Genomic Location | Chromosome 2:26243170-26290468 | ||||||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||||||
Band | p23.3 | ||||||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||||||
REACTOME |
Acyl chain remodeling of CL pathway
Beta oxidation of hexanoyl-CoA to butanoyl-CoA pathway
Beta oxidation of myristoyl-CoA to lauroyl-CoA pathway
Beta oxidation of palmitoyl-CoA to myristoyl-CoA pathway
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA pathway
Beta oxidation of octanoyl-CoA to hexanoyl-CoA pathway
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
Metabolism of lipids and lipoproteins pathway
Mitochondrial Fatty Acid Beta-Oxidation pathway
Glycerophospholipid biosynthesis pathway
Phospholipid metabolism pathway
mitochondrial fatty acid beta-oxidation of saturated fatty acids pathway
Metabolism pathway
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KEGG |
Valine, leucine and isoleucine degradation pathway
Fatty acid degradation pathway
Fatty acid elongation pathway
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INOH |
Valine Leucine Isoleucine degradation pathway
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PID NCI | |||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||||
UniGene | Hs.515848 Hs.637424 | ||||||||||||||||||||||||||
RefSeq | NM_000183 NM_001281512 NM_001281513 | ||||||||||||||||||||||||||
HUGO | |||||||||||||||||||||||||||
OMIM | |||||||||||||||||||||||||||
CCDS | CCDS1722 CCDS62871 CCDS62872 | ||||||||||||||||||||||||||
HPRD | 00887 | ||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||
EMBL | |||||||||||||||||||||||||||
GenPept | |||||||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||||||