Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HADHA Gene

Aliases for HADHA Gene

  • Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Alpha Subunit 2 3
  • Hydroxyacyl-Coenzyme A Dehydrogenase/3-Ketoacyl-Coenzyme A Thiolase/Enoyl-Coenzyme A Hydratase (Trifunctional Protein), Alpha Subunit 2 3
  • Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase 2 3
  • Long-Chain 2-Enoyl-CoA Hydratase 2 3
  • 78 KDa Gastrin-Binding Protein 3 4
  • Gastrin-Binding Protein 2 3
  • TP-ALPHA 3 4
  • HADH 3 4
  • Mitochondrial Long-Chain L-3-Hydroxyacyl-Coenzyme A (CoA) Dehydrogenase, Alpha Subunit 3
  • Mitochondrial Long-Chain 2-Enoyl-Coenzyme A (CoA) Hydratase, Alpha Subunit 3
  • 3-Ketoacyl-Coenzyme A (CoA) Thiolase, Alpha Subunit 3
  • Mitochondrial Trifunctional Protein, Alpha Subunit 3
  • Mitochondrial Trifunctional Enzyme, Alpha Subunit 3
  • Mitochondrial Trifunctional Protein 2
  • 3-Oxoacyl-CoA Thiolase 3
  • Alpha Subunit 2
  • LCHAD 3
  • ECHA 3
  • LCEH 3
  • MTPA 3
  • GBP 3

External Ids for HADHA Gene

Previous GeneCards Identifiers for HADHA Gene

  • GC02M026334
  • GC02M026506
  • GC02M026388
  • GC02M026325
  • GC02M026267
  • GC02M026413
  • GC02M026150

Summaries for HADHA Gene

Entrez Gene Summary for HADHA Gene

  • This gene encodes the alpha 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 alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for HADHA Gene

HADHA (Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Alpha Subunit) is a Protein Coding gene. Diseases associated with HADHA include trifunctional protein deficiency and lchad deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include oxidoreductase activity and NAD binding. An important paralog of this gene is EHHADH.

UniProtKB/Swiss-Prot for HADHA Gene

  • Bifunctional subunit

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HADHA Gene

Genomics for HADHA Gene

Regulatory Elements for HADHA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HADHA Gene

Chromosome:
2
Start:
26,190,635 bp from pter
End:
26,244,726 bp from pter
Size:
54,092 bases
Orientation:
Minus strand

Genomic View for HADHA Gene

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

RefSeq DNA sequence for HADHA Gene

Proteins for HADHA Gene

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

    Protein Symbol:
    P40939-ECHA_HUMAN
    Recommended name:
    Trifunctional enzyme subunit alpha, mitochondrial
    Protein Accession:
    P40939
    Secondary Accessions:
    • B2R7L4
    • B4DYP2
    • Q16679
    • Q53T69
    • Q53TA2
    • Q96GT7
    • Q9UQC5

    Protein attributes for HADHA Gene

    Size:
    763 amino acids
    Molecular mass:
    83000 Da
    Quaternary structure:
    • Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits.

    Alternative splice isoforms for HADHA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HADHA Gene

Proteomics data for HADHA Gene at MOPED

Post-translational modifications for HADHA Gene

  • Ubiquitination at Lys 303
  • Modification sites at PhosphoSitePlus

Other Protein References for HADHA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for HADHA Gene

Domains & Families for HADHA Gene

Graphical View of Domain Structure for InterPro Entry

P40939

UniProtKB/Swiss-Prot:

ECHA_HUMAN :
  • In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.
Family:
  • In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.
  • In the central section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with HADHA: view

No data available for Gene Families for HADHA Gene

Function for HADHA Gene

Molecular function for HADHA Gene

GENATLAS Biochemistry:
mitochondrial,membrane bound,fatty acid beta-oxidation trifunctional enzyme,alpha subunit harboring the long chain 2-enoyl-CoA hydratase and the long chain 3-hydroxyacyl-CoA dehydrogenase domains,linked to HADHB in head to head arrangement on opposite strand with a common 350bp flanking region
UniProtKB/Swiss-Prot CatalyticActivity:
(3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)O
UniProtKB/Swiss-Prot CatalyticActivity:
A long-chain (S)-3-hydroxyacyl-CoA + NAD(+) = a long-chain 3-oxoacyl-CoA + NADH
UniProtKB/Swiss-Prot Function:
Bifunctional subunit

Gene Ontology (GO) - Molecular Function for HADHA 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 8135828
GO:0003985 acetyl-CoA C-acetyltransferase activity TAS 8135828
GO:0003988 acetyl-CoA C-acyltransferase activity --
genes like me logo Genes that share ontologies with HADHA: view
genes like me logo Genes that share phenotypes with HADHA: view

Animal Models for HADHA Gene

MGI Knock Outs for HADHA:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HADHA

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HADHA Gene

Localization for HADHA Gene

Subcellular locations from UniProtKB/Swiss-Prot for HADHA Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HADHA Gene COMPARTMENTS Subcellular localization image for HADHA gene
Compartment Confidence
mitochondrion 5
peroxisome 2
extracellular 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HADHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20833797
GO:0005743 mitochondrial inner membrane TAS --
GO:0016507 mitochondrial fatty acid beta-oxidation multienzyme complex IEA --
GO:0042645 mitochondrial nucleoid IDA 18063578
genes like me logo Genes that share ontologies with HADHA: view

Pathways & Interactions for HADHA Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P40939-ECHA_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation

Gene Ontology (GO) - Biological Process for HADHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006631 fatty acid metabolic process --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0006644 phospholipid metabolic process TAS --
GO:0008152 metabolic process --
GO:0032868 response to insulin IEA --
genes like me logo Genes that share ontologies with HADHA: view

No data available for SIGNOR curated interactions for HADHA Gene

Drugs & Compounds for HADHA Gene

(25) Drugs for HADHA Gene - From: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved Pharma Channel blocker 971
S-Adenosylmethionine Approved Nutra 0
Acetoacetyl-CoA Experimental Pharma 0
Methacrylyl-CoA Experimental Pharma 0
Propionyl-CoA Experimental Pharma 0

(88) Additional Compounds for HADHA Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(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
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with HADHA: view

Transcripts for HADHA Gene

mRNA/cDNA for HADHA Gene

Unigene Clusters for HADHA Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HADHA

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1: -
SP2:
SP3:

Relevant External Links for HADHA Gene

GeneLoc Exon Structure for
HADHA
ECgene alternative splicing isoforms for
HADHA

Expression for HADHA Gene

mRNA expression in normal human tissues for HADHA Gene

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

This gene is overexpressed in Muscle - Skeletal (x5.3) and Heart - Left Ventricle (x4.2).

Protein differential expression in normal tissues from HIPED for HADHA Gene

This gene is overexpressed in Heart (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HADHA Gene



SOURCE GeneReport for Unigene cluster for HADHA Gene Hs.516032

genes like me logo Genes that share expression patterns with HADHA: view

Protein tissue co-expression partners for HADHA 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 HADHA Gene

Orthologs for HADHA Gene

This gene was present in the common ancestor of animals.

Orthologs for HADHA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HADHA 35
  • 88.02 (n)
  • 87.7 (a)
HADHA 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HADHA 35
  • 89.63 (n)
  • 89.76 (a)
HADHA 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hadha 35
  • 85.54 (n)
  • 86.5 (a)
Hadha 16
Hadha 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HADHA 35
  • 99.65 (n)
  • 99.87 (a)
HADHA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hadha 35
  • 84.4 (n)
  • 85.19 (a)
oppossum
(Monodelphis domestica)
Mammalia HADHA 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HADHA 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves HADHA 35
  • 73.72 (n)
  • 77.92 (a)
HADHA 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HADHA 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hadha 35
  • 71.93 (n)
  • 77.63 (a)
MGC76057 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25552 35
zebrafish
(Danio rerio)
Actinopterygii hadhab 35
  • 68.06 (n)
  • 72.35 (a)
hadhaa 36
  • 71 (a)
OneToMany
hadhab 36
  • 72 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH12558 37
  • 56 (a)
Mtpalpha 35
  • 58.46 (n)
  • 57.28 (a)
Mtpalpha 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007784 35
  • 57.4 (n)
  • 57.26 (a)
worm
(Caenorhabditis elegans)
Secernentea C29F3.1 37
  • 51 (a)
F01G10.2 37
  • 27 (a)
T08B2.7a 37
  • 53 (a)
T08B2.7b 37
  • 53 (a)
T08B2.7c 37
  • 51 (a)
T08B2.7 35
  • 56.75 (n)
  • 54.02 (a)
ech-1 36
  • 50 (a)
OneToMany
T08B2.7 36
  • 51 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4868 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8212 36
  • 57 (a)
OneToOne
Species with no ortholog for HADHA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 HADHA Gene

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

Paralogs for HADHA Gene

Paralogs for HADHA Gene

(1) SIMAP similar genes for HADHA Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for HADHA Gene

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

Variants for HADHA Gene

Sequence variations from dbSNP and Humsavar for HADHA Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs962217 -- 26,215,407(-) TGGAA(A/G)CCAAA intron-variant
rs1046674 -- 26,214,765(+) GTACA(C/T)GAGTG intron-variant
rs1107238 -- 26,235,376(-) AACAA(A/G)CTGAA intron-variant
rs1368902 -- 26,217,707(-) cccac(A/G)ctggt intron-variant
rs1545057 -- 26,209,182(-) AATGC(C/T)TGGGA intron-variant

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

Variant ID Type Subtype PubMed ID
esv33316 CNV Loss 17666407
nsv873747 CNV Gain 21882294
nsv524918 CNV Gain 19592680
nsv873748 CNV Loss 21882294
nsv2648 CNV Loss 18451855

Variation tolerance for HADHA Gene

Residual Variation Intolerance Score: 12.46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.86; 58.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HADHA Gene

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

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

Disorders for HADHA Gene

MalaCards: The human disease database

(21) MalaCards diseases for HADHA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
trifunctional protein deficiency
  • mtp deficiency
lchad deficiency
  • hellp syndrome, maternal, of pregnancy
hellp syndrome
  • syndrome of haemolysis, elevated liver enzymes and low platelet
kidney cortex necrosis
  • renal cortical necrosis
3-hydroxyacyl-coa dehydrogenase deficiency
  • hadh deficiency
- elite association
Search HADHA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ECHA_HUMAN
  • Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]: The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced. {ECO:0000269 PubMed:7811722, ECO:0000269 PubMed:9266371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]: Severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome). {ECO:0000269 PubMed:7846063}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:9739053}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HADHA

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

No data available for Genatlas for HADHA Gene

Publications for HADHA 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 23 67
  2. Structures of the human cDNA and gene encoding the 78 kDa gastrin- binding protein and of a related pseudogene. (PMID: 7918661) Zhang Q.X. … Baldwin G.S. (Biochim. Biophys. Acta 1994) 2 23 67
  3. Perioperative management of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. (PMID: 20470346) Steinmann D. … Priebe H.J. (Paediatr Anaesth 2010) 23 67
  4. Thromboxane receptor alpha mediates tumor growth and angiogenesis via induction of vascular endothelial growth factor expression in human lung cancer cells. (PMID: 19853959) Wei J. … Tai H.H. (Lung Cancer 2010) 23 67
  5. Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication? (PMID: 20363656) Eskelin P.M. … Tyni T.A. (Mol. Genet. Metab. 2010) 23 67

Products for HADHA Gene

Sources for HADHA Gene

Back to Top

Content