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Aliases for HADHB Gene

Aliases for HADHB Gene

  • Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Beta Subunit 2 3
  • Hydroxyacyl-Coenzyme A Dehydrogenase/3-Ketoacyl-Coenzyme A Thiolase/Enoyl-Coenzyme A Hydratase (Trifunctional Protein), Beta Subunit 2 3
  • TP-BETA 3 4
  • 3-Ketoacyl-Coenzyme A (CoA) Thiolase Of Mitochondrial Trifunctional Protein, Beta Subunit 3
  • 2-Enoyl-Coenzyme A (CoA) Hydratase, Beta Subunit 3
  • Trifunctional Enzyme Subunit Beta, Mitochondrial 3
  • Mitochondrial Trifunctional Protein 2
  • Acetyl-CoA Acyltransferase 3
  • Beta-Ketothiolase 3
  • Beta Subunit 2
  • EC 2.3.1.16 63
  • EC 2.3.1 63
  • MSTP029 3
  • ECHB 3
  • MTPB 3

External Ids for HADHB Gene

Previous GeneCards Identifiers for HADHB Gene

  • GC02P026389
  • GC02P026560
  • GC02P026442
  • GC02P026379
  • GC02P026321
  • GC02P026466
  • GC02P026213

Summaries for HADHB Gene

Entrez Gene Summary for HADHB Gene

  • 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]

GeneCards Summary for HADHB Gene

HADHB (Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Beta Subunit) is a Protein Coding gene. Diseases associated with HADHB include trifunctional protein deficiency and mitochondrial trifunctional protein deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein complex binding and fatty-acyl-CoA binding. An important paralog of this gene is ACAT2.

Gene Wiki entry for HADHB Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HADHB Gene

Genomics for HADHB Gene

Regulatory Elements for HADHB Gene

Genomic Location for HADHB Gene

Start:
26,243,170 bp from pter
End:
26,290,468 bp from pter
Size:
47,299 bases
Orientation:
Plus strand

Genomic View for HADHB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HADHB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HADHB Gene

Proteins for HADHB Gene

  • Protein details for HADHB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55084-ECHB_HUMAN
    Recommended name:
    Trifunctional enzyme subunit beta, mitochondrial
    Protein Accession:
    P55084
    Secondary Accessions:
    • B2RB16
    • B4E2W0
    • O14969
    • Q53TA6
    • Q96C77
    • Q9H3F5
    • Q9T2V8

    Protein attributes for HADHB Gene

    Size:
    474 amino acids
    Molecular mass:
    51294 Da
    Quaternary structure:
    • Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits. Interacts with RSAD2/viperin.
    SequenceCaution:
    • Sequence=BAA22061.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for HADHB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HADHB Gene

Proteomics data for HADHB Gene at MOPED

Post-translational modifications for HADHB Gene

  • Ubiquitination at Lys72 and Lys268
  • Modification sites at PhosphoSitePlus

Other Protein References for HADHB Gene

Domains for HADHB Gene

Graphical View of Domain Structure for InterPro Entry

P55084

UniProtKB/Swiss-Prot:

ECHB_HUMAN :
  • P55084
Family:
  • Belongs to the thiolase family.
genes like me logo Genes that share domains with HADHB: view

No data available for Gene Families for HADHB Gene

Function for HADHB Gene

Molecular function for HADHB Gene

GENATLAS Biochemistry: mitochondrial,membrane bound fatty acid beta-oxidation trifunctional enzyme,beta subunit,harboring the long chain 3-oxoacyl-CoA thiolase
UniProtKB/Swiss-Prot CatalyticActivity: Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA.

Enzyme Numbers (IUBMB) for HADHB Gene

Gene Ontology (GO) - Molecular Function for HADHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IEA --
GO:0003824 catalytic activity --
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity TAS 1550553
GO:0003988 acetyl-CoA C-acyltransferase activity IEA --
GO:0004300 enoyl-CoA hydratase activity IEA --
genes like me logo Genes that share ontologies with HADHB: view
genes like me logo Genes that share phenotypes with HADHB: view

miRNA for HADHB Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for HADHB Gene

Localization for HADHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for HADHB Gene

Mitochondrion. Mitochondrion inner membrane. Mitochondrion outer membrane. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HADHB Gene COMPARTMENTS Subcellular localization image for HADHB gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
nucleus 3
peroxisome 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HADHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 7958339
GO:0005740 mitochondrial envelope TAS 1550553
GO:0005741 mitochondrial outer membrane IDA 21527675
GO:0005743 mitochondrial inner membrane TAS --
GO:0005783 endoplasmic reticulum IDA 21527675
genes like me logo Genes that share ontologies with HADHB: view

Pathways for HADHB Gene

genes like me logo Genes that share pathways with HADHB: view

UniProtKB/Swiss-Prot P55084-ECHB_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation

Gene Ontology (GO) - Biological Process for HADHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation TAS --
GO:0006644 phospholipid metabolic process TAS --
GO:0008152 metabolic process --
GO:0035965 cardiolipin acyl-chain remodeling TAS --
GO:0044255 cellular lipid metabolic process TAS --
genes like me logo Genes that share ontologies with HADHB: view

Compounds for HADHB Gene

(58) HMDB Compounds for HADHB Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4

(29) Novoseek inferred chemical compound relationships for HADHB Gene

Compound -log(P) Hits PubMed IDs
3-ketopalmitoyl-coa 90.7 1
i-bop 86.5 3
thromboxane a2 84.3 23
trimetazidine 81.1 7
acyl-coa 78.6 18
genes like me logo Genes that share compounds with HADHB: view

Transcripts for HADHB Gene

Unigene Clusters for HADHB Gene

Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HADHB Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b
SP1: - -
SP2: -
SP3:
SP4: - - - -
SP5: - - - -
SP6:
SP7:
SP8: -

Relevant External Links for HADHB Gene

GeneLoc Exon Structure for
HADHB
ECgene alternative splicing isoforms for
HADHB

Expression for HADHB Gene

mRNA expression in normal human tissues for HADHB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HADHB Gene

This gene is overexpressed in Heart - Left Ventricle (7.6) and Muscle - Skeletal (6.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HADHB Gene

SOURCE GeneReport for Unigene cluster for HADHB Gene Hs.515848

genes like me logo Genes that share expressions with HADHB: view

No data available for mRNA Expression by UniProt/SwissProt for HADHB Gene

Orthologs for HADHB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HADHB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HADHB 35
  • 99.79 (n)
  • 100 (a)
HADHB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HADHB 35
  • 90.72 (n)
  • 91.98 (a)
HADHB 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 94 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
HADHB 35
  • 91.47 (n)
  • 94.29 (a)
mouse
(Mus musculus)
Mammalia Hadhb 35
  • 88.94 (n)
  • 91.12 (a)
Hadhb 16
Hadhb 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HADHB 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Hadhb 35
  • 88.65 (n)
  • 89.85 (a)
chicken
(Gallus gallus)
Aves HADHB 35
  • 74.79 (n)
  • 83.9 (a)
HADHB 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HADHB 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia thiolase-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hadhb 35
  • 75.23 (n)
  • 84.15 (a)
MGC75788 35
zebrafish
(Danio rerio)
Actinopterygii hadhb 35
  • 71.22 (n)
  • 79.1 (a)
hadhb 36
  • 77 (a)
OneToOne
wufb14g10 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011827 35
  • 62.9 (n)
  • 72.04 (a)
fruit fly
(Drosophila melanogaster)
Insecta Thiolase 35
  • 62.99 (n)
  • 68.92 (a)
Thiolase 36
  • 65 (a)
OneToOne
Thiolase 37
  • 67 (a)
worm
(Caenorhabditis elegans)
Secernentea B0303.3 35
  • 62.46 (n)
  • 62.39 (a)
B0303.3 36
  • 61 (a)
OneToOne
B0303.3 37
  • 61 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 36
  • 33 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4219 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1756 36
  • 65 (a)
OneToOne
Species with no ortholog for HADHB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HADHB Gene

ENSEMBL:
Gene Tree for HADHB (if available)
TreeFam:
Gene Tree for HADHB (if available)

Paralogs for HADHB Gene

Paralogs for HADHB Gene

Selected SIMAP similar genes for HADHB Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for HADHB Gene

genes like me logo Genes that share paralogs with HADHB: view

Variants for HADHB Gene

Sequence variations from dbSNP and Humsavar for HADHB Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1056389 -- 26,280,007(+) ACAGT(C/T)ACCAA synonymous-codon, reference
rs1056471 -- 26,290,089(+) AAATA(C/G)TTTGC utr-variant-3-prime
rs1056601 -- 26,290,390(+) TAAAC(A/C)CCACT utr-variant-3-prime
rs1056603 -- 26,290,393(+) ACACC(A/C)CTGAA utr-variant-3-prime
rs1056632 -- 26,289,865(+) TGTAC(G/T)AGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HADHB Gene

Variant ID Type Subtype PubMed ID
esv33316 CNV Loss 17666407
esv267941 CNV Insertion 20981092
esv273638 CNV Insertion 20981092
esv1501344 CNV Insertion 17803354
esv2719825 CNV Deletion 23290073

Relevant External Links for HADHB Gene

HapMap Linkage Disequilibrium report
HADHB
Human Gene Mutation Database (HGMD)
HADHB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HADHB Gene

Disorders for HADHB Gene

(1) OMIM Diseases for HADHB Gene (143450)

UniProtKB/Swiss-Prot

ECHB_HUMAN
  • Trifunctional protein deficiency (TFP deficiency) [MIM:609015]: The clinical manifestations are very variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainly hepatic and neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the loss of all three enzyme activities of the TFP complex. {ECO:0000269 PubMed:12754706, ECO:0000269 PubMed:8651282, ECO:0000269 PubMed:9259266}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(13) Novoseek inferred disease relationships for HADHB Gene

Disease -log(P) Hits PubMed IDs
rhizomelic chondrodysplasia punctata, type 1 85.8 2
chondrodysplasia punctata rhizomelic 80.6 1
d-bifunctional protein deficiency 79.4 2
zellweger syndrome 76.7 1
peroxisomal disorders 74.1 2

Relevant External Links for HADHB

Genetic Association Database (GAD)
HADHB
Human Genome Epidemiology (HuGE) Navigator
HADHB
genes like me logo Genes that share disorders with HADHB: view

Publications for HADHB Gene

  1. Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. (PMID: 8163672) Kamijo T. … Hashimoto T. (J. Clin. Invest. 1994) 3 4 23
  2. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. (PMID: 8651282) Ushikubo S. … Hashimoto T. (Am. J. Hum. Genet. 1996) 3 4 23
  3. Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. (PMID: 9259266) Orii K.E. … Hashimoto T. (Hum. Mol. Genet. 1997) 3 4 23
  4. Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution. (PMID: 9605857) Aoyama T. … Fukushima Y. (Cytogenet. Cell Genet. 1997) 2 3 23
  5. Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria. (PMID: 1550553) Carpenter K. … Middleton B. (Biochem. Biophys. Res. Commun. 1992) 3 23

Products for HADHB Gene

Sources for HADHB Gene

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