Human Gene HADHB (uc010ykv.2) Description and Page Index
  Description: Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_000183): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:26,467,616-26,513,333 Size: 45,718 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chr2:26,483,889-26,512,821 Size: 28,933 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:26,467,616-26,513,333)mRNA (may differ from genome)Protein (452 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIPubMedStanford SOURCE
TreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: B4E2W0_HUMAN
DESCRIPTION: SubName: Full=3-ketoacyl-CoA thiolase; SubName: Full=cDNA FLJ56214, highly similar to Trifunctional enzyme subunit beta, mitochondrial;
SIMILARITY: Belongs to the thiolase family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HADHB
CDC HuGE Published Literature: HADHB

-  MalaCards Disease Associations
  MalaCards Gene Search: HADHB
Diseases sorted by gene-association score: trifunctional protein deficiency* (1702), peroxisomal disease (15), rhizomelic chondrodysplasia punctata (11), 3-hydroxyacyl-coenzyme a dehydrogenase deficiency (11), vlcad deficiency (10), rhizomelic chondrodysplasia punctata, type 1 (9), d-bifunctional protein deficiency (9), peroxisome disorders (6), abetalipoproteinemia (6), carnitine palmitoyltransferase ii deficiency (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 224.59 RPKM in Heart - Left Ventricle
Total median expression: 2288.83 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -157.06400-0.393 Picture PostScript Text
3' UTR -118.70512-0.232 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002155 - Thiolase
IPR016039 - Thiolase-like
IPR016038 - Thiolase-like_subgr
IPR020615 - Thiolase_acyl_enz_int_AS
IPR020610 - Thiolase_AS
IPR020617 - Thiolase_C
IPR020613 - Thiolase_CS
IPR020616 - Thiolase_N

Pfam Domains:
PF00108 - Thiolase, N-terminal domain
PF00109 - Beta-ketoacyl synthase, N-terminal domain
PF02803 - Thiolase, C-terminal domain

SCOP Domains:
53901 - Thiolase-like

ModBase Predicted Comparative 3D Structure on B4E2W0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
    Gene Details 
    Gene Sorter 
    WormBase 
    Protein Sequence 
    Alignment 

-  Descriptions from all associated GenBank mRNAs
  BC066963 - Homo sapiens hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit, mRNA (cDNA clone MGC:87480 IMAGE:4796447), complete cds.
BC017564 - Homo sapiens hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit, mRNA (cDNA clone MGC:1727 IMAGE:2988132), complete cds.
AK130072 - Homo sapiens cDNA FLJ26562 fis, clone LNF04029, highly similar to Trifunctional enzyme beta subunit, mitochondrial precursor.
AK314455 - Homo sapiens cDNA, FLJ95256, Homo sapiens hydroxyacyl-Coenzyme Adehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme Ahydratase (trifunctional protein), beta subunit (HADHB), mRNA.
AF113209 - Homo sapiens MSTP029 mRNA, complete cds.
BC014572 - Homo sapiens hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit, mRNA (cDNA clone MGC:22699 IMAGE:3960772), complete cds.
AK293142 - Homo sapiens cDNA FLJ59448 complete cds, highly similar to Trifunctional enzyme subunit beta, mitochondrial precursor.
D16481 - Homo sapiens mRNA for mitochondrial 3-ketoacyl-CoA thiolase beta-subunit of trifunctional protein, complete cds.
AK304455 - Homo sapiens cDNA FLJ56214 complete cds, highly similar to Trifunctional enzyme subunit beta, mitochondrial precursor.
AK302322 - Homo sapiens cDNA FLJ55769 complete cds, highly similar to Trifunctional enzyme subunit beta, mitochondrial precursor.
BC030824 - Homo sapiens hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit, mRNA (cDNA clone MGC:24827 IMAGE:4288635), complete cds.
KJ901037 - Synthetic construct Homo sapiens clone ccsbBroadEn_10431 HADHB gene, encodes complete protein.
KJ901038 - Synthetic construct Homo sapiens clone ccsbBroadEn_10432 HADHB gene, encodes complete protein.
KR710235 - Synthetic construct Homo sapiens clone CCSBHm_00010810 HADHB (HADHB) mRNA, encodes complete protein.
KR710236 - Synthetic construct Homo sapiens clone CCSBHm_00010814 HADHB (HADHB) mRNA, encodes complete protein.
KR710237 - Synthetic construct Homo sapiens clone CCSBHm_00010826 HADHB (HADHB) mRNA, encodes complete protein.
KR710238 - Synthetic construct Homo sapiens clone CCSBHm_00010827 HADHB (HADHB) mRNA, encodes complete protein.
LF206798 - JP 2014500723-A/14301: Polycomb-Associated Non-Coding RNAs.
LF358064 - JP 2014500723-A/165567: Polycomb-Associated Non-Coding RNAs.
JD138114 - Sequence 119138 from Patent EP1572962.
MA442375 - JP 2018138019-A/14301: Polycomb-Associated Non-Coding RNAs.
MA593641 - JP 2018138019-A/165567: Polycomb-Associated Non-Coding RNAs.
CU677045 - Synthetic construct Homo sapiens gateway clone IMAGE:100019574 5' read HADHB mRNA.
DQ892722 - Synthetic construct clone IMAGE:100005352; FLH189113.01X; RZPDo839B0974D hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta s> (HADHB) gene, encodes complete protein.
DQ895971 - Synthetic construct Homo sapiens clone IMAGE:100010431; FLH189109.01L; RZPDo839B0964D hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta s> (HADHB) gene, encodes complete protein.
AK095278 - Homo sapiens cDNA FLJ37959 fis, clone CTONG2009572, highly similar to TRIFUNCTONAL ENZYME BETA SUBUNIT, MITOCHONDRIAL PRECURSOR.
JD508898 - Sequence 489922 from Patent EP1572962.
JD082231 - Sequence 63255 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00062 - Fatty acid elongation in mitochondria
hsa00071 - Fatty acid metabolism
hsa00280 - Valine, leucine and isoleucine degradation
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: AK304455, B4E2W0, B4E2W0_HUMAN
UCSC ID: uc010ykv.2
RefSeq Accession: NM_000183
Protein: B4E2W0 CCDS: CCDS62872.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK304455.1
exon count: 17CDS single in 3' UTR: no RNA size: 1895
ORF size: 1359CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2411.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.