HuLPr21161

Uniprot ID

ECHA_HUMAN

Uniprot Acc

P40939;B2R7L4;Q16679;Q96GT7;

Protein name

Trifunctional enzyme subunit alpha, mitochondrial

Comment

FUNCTION:Bifunctional subunit.||CATALYTIC ACTIVITY:(3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl- CoA + H(2)O.||CATALYTIC ACTIVITY:(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.||PATHWAY:Lipid metabolism; fatty acid beta-oxidation.||SUBUNIT:Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits.||INTERACTION:O95166:GABARAP; NbExp=2; IntAct=EBI-356720, EBI-712001; Q9H0R8:GABARAPL1; NbExp=1; IntAct=EBI-356720, EBI-746969; P60520:GABARAPL2; NbExp=1; IntAct=EBI-356720, EBI-720116; Q9GZQ8:MAP1LC3B; NbExp=1; IntAct=EBI-356720, EBI-373144;||SUBCELLULAR LOCATION:Mitochondrion.||DISEASE:Defects in HADHA are a cause of 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 enzyme activities of the TFP complex.||DISEASE:Defects in

Subcellular localization

Mitochondrion.

Gene name

hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit

Related liver disease name

Hepatocellular carcinoma

Protein sequence

MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTH INYGVKGDVAVVRINSPNSKVNTLSKELHSEFSEVMNEI WASDQIRSAVLISSKPGCFIAGADINMLAACKTLQEVTQ LSQEAQRIVEKLEKSTKPIVAAINGSCLGGGLEVAISCQ YRIATKDRKTVLGTPEVLLGALPGAGGTQRLPKMVGVPA ALDMMLTGRSIRADRAKKMGLVDQLVEPLGPGLKPPEER TIEYLEEVAITFAKGLADKKISPKRDKGLVEKLTAYAMT IPFVRQQVYKKVEEKVRKQTKGLYPAPLKIIDVVKTGIE QGSDAGYLCESQKFGELVMTKESKALMGLYHGQVLCKKN KFGAPQKDVKHLAILGAGLMGAGIAQVSVDKGLKTILKD ATLTALDRGQQQVFKGLNDKVKKKALTSFERDSIFSNLT GQLDYQGFEKADMVIEAVFEDLSLKHRVLKEVEAVIPDH CIFASNTSALPISEIAAVSKRPEKVIGMHYFSPVDKMQL LEIITTEKTSKDTSASAVAVGLKQGKVIIVVKDGPGFYT TRCLAPMMSEVIRILQEGVDPKKLDSLTTSFGFPVGAAT LVDEVGVDVAKHVAEDLGKVFGERFGGGNPELLTQMVSK GFLGRKSGKGFYIYQEGVKRKDLNSDMDSILASLKLPPK SEVSSDEDIQFRLVTRFVNEAVMCLQEGILATPAEGDIG AVFGLGFPPCLGGPFRFVDLYGAQKIVDRLKKYEAAYGK QFTPCQLLADHANSPNKKFYQ

Database cross reference

RefSeq Protein accession:NP_000173
RefSeq Protein gi:20127408

HCC significant Proteins

Yes/No

Yes

Quality score

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;French Liver;Human Fetal Liver;Human Liver Organelles;

GO:0016507;C:fatty acid beta-oxidation multienzyme complex;IEA:InterPro. GO:0042645;C:mitochondrial nucleoid;IDA:BHF-UCL. GO:0005730;C:nucleolus;IDA:HPA.

GO-F

GO:0003857;F:3-hydroxyacyl-CoA dehydrogenase activity;TAS:ProtInc. GO:0003985;F:acetyl-CoA C-acetyltransferase activity;TAS:ProtInc. GO:0050662;F:coenzyme binding;IEA:InterPro. GO:0004300;F:enoyl-CoA hydratase activity;TAS:ProtInc. GO:0016509;F:long-ch

GO-P

GO:0006635;P:fatty acid beta-oxidation;TAS:Reactome.