• Gene id: 3030

Gene Summary

• Gene Symbol: HADHA   Gene   UCSC   Ensembl
• Aliases: ECHA, GBP, HADH, LCEH, LCHAD, MTPA, TP-ALPHA
• Gene name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
• Alternate names: trifunctional enzyme subunit alpha, mitochondrial, 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit, 3-oxoacyl-CoA thiolase, 78 kDa gastrin-binding protein, gastrin-binding protein, hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (,
• Gene location: 2p23.3 (26244631: 26190634)     Exons: 2     NC_000002.12
• Gene summary(Entrez): 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 fo
• OMIM: 600890

Protein Summary

• Protein general information: P40939  
  • Name: Trifunctional enzyme subunit alpha, mitochondrial (78 kDa gastrin binding protein) (Monolysocardiolipin acyltransferase) (EC 2.3.1. ) (TP alpha) [Includes: Long chain enoyl CoA hydratase (EC 4.2.1.17); Long chain 3 hydroxyacyl CoA dehydrogenase (EC 1.1.1.
  • Length: 763  
  • Mass: 83000
• Sequence:

  MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGVKGDVAVVRINSPNSKVNTLSKELHSEFSEV
  MNEIWASDQIRSAVLISSKPGCFIAGADINMLAACKTLQEVTQLSQEAQRIVEKLEKSTKPIVAAINGSCLGGGL
  EVAISCQYRIATKDRKTVLGTPEVLLGALPGAGGTQRLPKMVGVPAALDMMLTGRSIRADRAKKMGLVDQLVEPL
  GPGLKPPEERTIEYLEEVAITFAKGLADKKISPKRDKGLVEKLTAYAMTIPFVRQQVYKKVEEKVRKQTKGLYPA
  PLKIIDVVKTGIEQGSDAGYLCESQKFGELVMTKESKALMGLYHGQVLCKKNKFGAPQKDVKHLAILGAGLMGAG
  IAQVSVDKGLKTILKDATLTALDRGQQQVFKGLNDKVKKKALTSFERDSIFSNLTGQLDYQGFEKADMVIEAVFE
  DLSLKHRVLKEVEAVIPDHCIFASNTSALPISEIAAVSKRPEKVIGMHYFSPVDKMQLLEIITTEKTSKDTSASA
  VAVGLKQGKVIIVVKDGPGFYTTRCLAPMMSEVIRILQEGVDPKKLDSLTTSFGFPVGAATLVDEVGVDVAKHVA
  EDLGKVFGERFGGGNPELLTQMVSKGFLGRKSGKGFYIYQEGVKRKDLNSDMDSILASLKLPPKSEVSSDEDIQF
  RLVTRFVNEAVMCLQEGILATPAEGDIGAVFGLGFPPCLGGPFRFVDLYGAQKIVDRLKKYEAAYGKQFTPCQLL
  ADHANSPNKKFYQ

• Structural information:
  • Interpro: IPR006180  IPR006176  IPR006108  IPR008927  IPR029045   IPR018376  IPR001753  IPR012803  IPR036291  
  • Prosite: PS00067 PS00166
  • PDB: 5ZQZ 5ZRV 6DV2
  • PDBsum: 5ZQZ 5ZRV 6DV2
  • STRING: ENSP00000370023
• Other Databases: GeneCards:  HADHA  Malacards:  HADHA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004300	enoyl-CoA hydratase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0016507	mitochondrial fatty acid beta-oxidation multienzyme complex	IBA	cellular component
GO:0006635	fatty acid beta-oxidation	IBA	biological process
GO:0016509	long-chain-3-hydroxyacyl-CoA dehydrogenase activity	IBA	molecular function
GO:0035965	cardiolipin acyl-chain remodeling	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IEA	molecular function
GO:0004300	enoyl-CoA hydratase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016507	mitochondrial fatty acid beta-oxidation multienzyme complex	IEA	cellular component
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	molecular function
GO:0004300	enoyl-CoA hydratase activity	TAS	molecular function
GO:0003985	acetyl-CoA C-acetyltransferase activity	TAS	molecular function
GO:0016509	long-chain-3-hydroxyacyl-CoA dehydrogenase activity	IEA	molecular function
GO:0004300	enoyl-CoA hydratase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0035965	cardiolipin acyl-chain remodeling	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016509	long-chain-3-hydroxyacyl-CoA dehydrogenase activity	IEA	molecular function
GO:0016508	long-chain-enoyl-CoA hydratase activity	IEA	molecular function
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0003988	acetyl-CoA C-acyltransferase activity	IEA	molecular function
GO:0000062	fatty-acyl-CoA binding	IEA	molecular function
GO:0032868	response to insulin	IEA	biological process
GO:0016509	long-chain-3-hydroxyacyl-CoA dehydrogenase activity	IEA	molecular function
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0051287	NAD binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0016507	mitochondrial fatty acid beta-oxidation multienzyme complex	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0004300	enoyl-CoA hydratase activity	IEA	molecular function
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IEA	molecular function
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0005739	mitochondrion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01212	Fatty acid metabolism
hsa00310	Lysine degradation
hsa00280	Valine, leucine and isoleucine degradation
hsa00071	Fatty acid degradation
hsa00410	beta-Alanine metabolism
hsa00640	Propanoate metabolism
hsa00380	Tryptophan metabolism
hsa00650	Butanoate metabolism
hsa00062	Fatty acid elongation

Diseases

Associated diseases	References
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Mitochondrial trifunctional protein deficiency	KEGG:H01352
LCHAD deficiency	KEGG:H00489
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Mitochondrial trifunctional protein deficiency	KEGG:H01352
LCHAD deficiency	KEGG:H00489
Alzheimer's disease	PMID:25260493
Fatty liver disease	PMID:7846063
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)