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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 5
  • 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
  • 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 peroxisomal disease. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. GO annotations related to this gene include poly(A) RNA binding and transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is ACAA1.

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

Promoters for HADHB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HADHB on UCSC Golden Path with GeneCards custom track

Genomic Location for HADHB Gene

Chromosome:
2
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

Genes around HADHB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HADHB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 268
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for HADHB Gene

Graphical View of Domain Structure for InterPro Entry

P55084

UniProtKB/Swiss-Prot:

ECHB_HUMAN :
  • Belongs to the thiolase family.
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:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with HADHB: view
genes like me logo Genes that share phenotypes with HADHB: view

Human Phenotype Ontology for HADHB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets 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
extracellular 5
mitochondrion 5
nucleus 3
peroxisome 3
cytosol 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HADHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane TAS --
genes like me logo Genes that share ontologies with HADHB: view

Pathways & Interactions 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:0046474 glycerophospholipid biosynthetic process TAS --
genes like me logo Genes that share ontologies with HADHB: view

No data available for SIGNOR curated interactions for HADHB Gene

Drugs & Compounds for HADHB Gene

(16) Drugs for HADHB Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetoacetyl-CoA Experimental Pharma 0
myristoyl-coa Experimental Pharma 0
Propionyl-CoA Experimental Pharma 0
Succinyl-CoA Experimental Pharma 0
Coenzyme A Nutra 0

(66) Additional Compounds for HADHB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
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:

Inhibitory RNA Products

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for HADHB Gene

This gene is overexpressed in Heart - Left Ventricle (x7.6) and Muscle - Skeletal (x6.9).

Protein differential expression in normal tissues from HIPED for HADHB Gene

This gene is overexpressed in Heart (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with HADHB: view

Protein tissue co-expression partners for HADHB Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
cow
(Bos Taurus)
Mammalia HADHB 35
  • 90.72 (n)
  • 91.98 (a)
HADHB 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HADHB 35
  • 91.47 (n)
  • 94.29 (a)
-- 36
  • 94 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Hadhb 35
  • 88.94 (n)
  • 91.12 (a)
Hadhb 16
Hadhb 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HADHB 35
  • 99.79 (n)
  • 100 (a)
HADHB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hadhb 35
  • 88.65 (n)
  • 89.85 (a)
oppossum
(Monodelphis domestica)
Mammalia HADHB 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
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
tropical clawed frog
(Silurana tropicalis)
Amphibia hadhb 35
  • 75.23 (n)
  • 84.15 (a)
MGC75788 35
African clawed frog
(Xenopus laevis)
Amphibia thiolase-prov 35
zebrafish
(Danio rerio)
Actinopterygii hadhb 35
  • 71.22 (n)
  • 79.1 (a)
wufb14g10 35
hadhb 36
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Thiolase 37
  • 67 (a)
Thiolase 35
  • 62.99 (n)
  • 68.92 (a)
Thiolase 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011827 35
  • 62.9 (n)
  • 72.04 (a)
worm
(Caenorhabditis elegans)
Secernentea B0303.3 37
  • 61 (a)
B0303.3 35
  • 62.46 (n)
  • 62.39 (a)
B0303.3 36
  • 61 (a)
OneToOne
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

(4) 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
VAR_007493 Mitochondrial trifunctional protein deficiency (MTPD)
VAR_007494 Mitochondrial trifunctional protein deficiency (MTPD)
VAR_007495 Mitochondrial trifunctional protein deficiency (MTPD)
VAR_017409 Mitochondrial trifunctional protein deficiency (MTPD)
VAR_021128 Mitochondrial trifunctional protein deficiency (MTPD)

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

Variation tolerance for HADHB Gene

Residual Variation Intolerance Score: 10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.29% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(10) MalaCards diseases for HADHB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
trifunctional protein deficiency
  • abetalipoproteinemia
peroxisomal disease
  • peroxisomal disorder
rhizomelic chondrodysplasia punctata
  • rcdp
chondrodysplasia punctata, rhizomelic, type 1
  • rhizomelic chondrodysplasia punctata, type 1
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
- elite association - COSMIC cancer census association via MalaCards
Search HADHB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ECHB_HUMAN
  • Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]: A disease biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction, respiratory failure. Sudden infant death may occur. Most patients die from heart failure. {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.

Relevant External Links for HADHB

Genetic Association Database (GAD)
HADHB
Human Genome Epidemiology (HuGE) Navigator
HADHB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HADHB
genes like me logo Genes that share disorders with HADHB: view

No data available for Genatlas for HADHB Gene

Publications for HADHB Gene

  1. 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 67
  2. Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency. (PMID: 19699128) Purevsuren J. … Yamaguchi S. (Mol. Genet. Metab. 2009) 3 23
  3. HADHB, HuR, and CP1 bind to the distal 3'-untranslated region of human renin mRNA and differentially modulate renin expression. (PMID: 12933794) Adams D.J. … Morris B.J. (J. Biol. Chem. 2003) 3 23
  4. Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region. (PMID: 10075708) Orii K.E. … Aoyama T. (J. Biol. Chem. 1999) 3 23
  5. 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 23

Products for HADHB Gene

Sources for HADHB Gene

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