Homo sapiens Gene: HADHB
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:26243170-26290468
Strand Forward strand
Band p23.3
Transcripts
ENST00000317799 ENSP00000325136
ENST00000405867 ENSP00000385411
ENST00000448743 ENSP00000415300
ENST00000425035 ENSP00000404633
ENST00000412805 ENSP00000413103
ENST00000479347
ENST00000494615
ENST00000537713 ENSP00000444295
ENST00000545822 ENSP00000442665
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.
Experimentally validated
Total 59 [view]
Protein-Protein 56 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000062 fatty-acyl-CoA binding
GO:0003824 catalytic activity
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity
GO:0003988 acetyl-CoA C-acyltransferase activity
GO:0004300 enoyl-CoA hydratase activity
GO:0005515 protein binding
GO:0016508 long-chain-enoyl-CoA hydratase activity
GO:0016509 long-chain-3-hydroxyacyl-CoA dehydrogenase activity
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups
GO:0032403 protein complex binding
GO:0044822 poly(A) RNA binding
GO:0051287 NAD binding
Biological Process
GO:0006635 fatty acid beta-oxidation
GO:0006644 phospholipid metabolic process
GO:0008152 metabolic process
GO:0035965 cardiolipin acyl-chain remodeling
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
GO:0046474 glycerophospholipid biosynthetic process
Cellular Component
GO:0005739 mitochondrion
GO:0005740 mitochondrial envelope
GO:0005741 mitochondrial outer membrane
GO:0005743 mitochondrial inner membrane
GO:0005783 endoplasmic reticulum
GO:0016507 mitochondrial fatty acid beta-oxidation multienzyme complex
GO:0042645 mitochondrial nucleoid
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Beta oxidation of palmitoyl-CoA to myristoyl-CoA pathway
Metabolism of lipids and lipoproteins pathway
Beta oxidation of octanoyl-CoA to hexanoyl-CoA pathway
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA pathway
Mitochondrial Fatty Acid Beta-Oxidation pathway
Glycerophospholipid biosynthesis pathway
Acyl chain remodeling of CL pathway
Beta oxidation of hexanoyl-CoA to butanoyl-CoA pathway
Phospholipid metabolism pathway
Beta oxidation of myristoyl-CoA to lauroyl-CoA pathway
mitochondrial fatty acid beta-oxidation of saturated fatty acids pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA pathway
Metabolism pathway
KEGG
Fatty acid elongation pathway
Fatty acid degradation pathway
Valine, leucine and isoleucine degradation pathway
INOH
Valine Leucine Isoleucine degradation pathway
PID BIOCARTA
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