Details for: HADHA

Gene ID: 3030

Symbol: HADHA

Ensembl ID: ENSG00000084754

Description: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.62
    Marker Score: 2802
  • Cell Name: blood cell (CL0000081)
    Fold Change: 2.57
    Marker Score: 29908.5
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.46
    Marker Score: 11819
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.38
    Marker Score: 132976.5
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.36
    Marker Score: 52771
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.32
    Marker Score: 7300
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.22
    Marker Score: 3421.5
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.22
    Marker Score: 3677
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.16
    Marker Score: 4912
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 2.15
    Marker Score: 4195
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 2.14
    Marker Score: 1128
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 2.11
    Marker Score: 1530
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 2.09
    Marker Score: 27505
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 2.08
    Marker Score: 15503
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 2.06
    Marker Score: 8447
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.06
    Marker Score: 8890
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.05
    Marker Score: 36365.5
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 2.05
    Marker Score: 5097
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.02
    Marker Score: 2976
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 2.01
    Marker Score: 3570
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2
    Marker Score: 5012
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.98
    Marker Score: 473.5
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.97
    Marker Score: 7631.5
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.97
    Marker Score: 7730
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.94
    Marker Score: 639
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.94
    Marker Score: 2179
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.94
    Marker Score: 21805
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.92
    Marker Score: 5141
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.91
    Marker Score: 16501.5
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.91
    Marker Score: 4490
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 1.9
    Marker Score: 667
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.9
    Marker Score: 3969
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.9
    Marker Score: 4511
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.89
    Marker Score: 712
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.89
    Marker Score: 2678
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.89
    Marker Score: 605
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.88
    Marker Score: 65050
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.87
    Marker Score: 1888
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.87
    Marker Score: 3255
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.87
    Marker Score: 1994
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.86
    Marker Score: 4693
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.86
    Marker Score: 1353
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.85
    Marker Score: 12056
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 1.84
    Marker Score: 1151
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.84
    Marker Score: 1985.5
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.84
    Marker Score: 11758
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.83
    Marker Score: 1294
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.82
    Marker Score: 1244
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.82
    Marker Score: 18454
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.82
    Marker Score: 742
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.82
    Marker Score: 2418
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 1.81
    Marker Score: 3225
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.8
    Marker Score: 3386
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.8
    Marker Score: 46052
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.79
    Marker Score: 603
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 1.77
    Marker Score: 1714
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.77
    Marker Score: 2076
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 1.77
    Marker Score: 7585
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 1.77
    Marker Score: 3465
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.77
    Marker Score: 2899.5
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.77
    Marker Score: 3003
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.76
    Marker Score: 1173
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.76
    Marker Score: 1103
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.75
    Marker Score: 4760
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 1.75
    Marker Score: 873.5
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 1.75
    Marker Score: 92287
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.74
    Marker Score: 606
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.74
    Marker Score: 1837
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 1.73
    Marker Score: 1361
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.73
    Marker Score: 810
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.73
    Marker Score: 430
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.73
    Marker Score: 1629
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.73
    Marker Score: 7220
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.73
    Marker Score: 427
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.72
    Marker Score: 2656
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 1.72
    Marker Score: 1301
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.72
    Marker Score: 4670
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 1.71
    Marker Score: 452.5
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 1.71
    Marker Score: 391.5
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 1.71
    Marker Score: 2106
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.7
    Marker Score: 2200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.7
    Marker Score: 5053
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.7
    Marker Score: 4158
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.7
    Marker Score: 641
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.7
    Marker Score: 6554.5
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.7
    Marker Score: 801.5
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.69
    Marker Score: 1753
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 1.69
    Marker Score: 583
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 1.69
    Marker Score: 1833
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 1.68
    Marker Score: 821
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.68
    Marker Score: 1404
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.68
    Marker Score: 816
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.68
    Marker Score: 925
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.68
    Marker Score: 1580
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.68
    Marker Score: 5949
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 1.67
    Marker Score: 1138
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.66
    Marker Score: 886
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 1.66
    Marker Score: 1688
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.66
    Marker Score: 532
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.64
    Marker Score: 812

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Other Information

## Summary The HADHA gene encodes a trifunctional enzyme complex subunit of the hydroxyacyl-CoA dehydrogenase (HADHA) family. The enzyme complex is expressed in various cell types and is involved in a variety of cellular processes. ## Key characteristics * The HADHA gene is located on chromosome 17 and is approximately 1.5 million base pairs long. * The gene contains three exons and three introns. * The protein encoded by the HADHA gene is a trimer, with each subunit being approximately 300 amino acids long. * The enzyme complex is localized to the mitochondrial outer membrane. * The HADHA complex is a key enzyme in the beta-oxidation of fatty acids. ## Pathways and functions The HADHA complex is involved in a variety of cellular pathways, including: * **Fatty acid metabolism:** The HADHA complex is responsible for the beta-oxidation of various fatty acids, including palmitoyl-CoA, myristoyl-CoA, and octanoyl-CoA. * **Glycerophospholipid biosynthesis:** The HADHA complex is involved in the biosynthesis of phosphatidylinositol 4,5-bisphosphate (PIP2), a key molecule in cell signaling. * **Protein binding:** The HADHA complex is a protein-binding protein, with its subunits interacting with various other proteins involved in fatty acid metabolism. ## Clinical significance Mutations in the HADHA gene have been linked to a number of human diseases, including: * **Cardiomyopathy:** Mutations in the HADHA gene have been linked to the development of cardiomyopathy, a condition characterized by heart muscle damage. * **Obesity:** Mutations in the HADHA gene have also been linked to obesity. * **Metabolic syndrome:** Mutations in the HADHA gene have been linked to the development of metabolic syndrome, a cluster of conditions that increase the risk of heart disease, stroke, and diabetes.

Genular Protein ID: 104740987

Symbol: ECHA_HUMAN

Name: Trifunctional enzyme subunit alpha, mitochondrial

UniProtKB Accession Codes:

P40939 B2R7L4 B4DYP2 Q16679 Q53T69 Q53TA2 Q96GT7 Q9UQC5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CPTAC 2 CTD 1 ChEBI 57 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 3 EMBL 9 EMDB 2 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 16 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 6 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRIDE 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 8 RefSeq 1 Rhea 28 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8135828

Title: Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein.

PubMed ID: 8135828

DOI: 10.1006/bbrc.1994.1302

PubMed ID: 7918661

Title: Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogene.

PubMed ID: 7918661

DOI: 10.1016/0167-4781(94)90091-4

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10075708

Title: Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region.

PubMed ID: 10075708

DOI: 10.1074/jbc.274.12.8077

PubMed ID: 1550553

Title: Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.

PubMed ID: 1550553

DOI: 10.1016/0006-291x(92)90501-b

PubMed ID: 8163672

Title: Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

PubMed ID: 8163672

DOI: 10.1172/jci117158

PubMed ID: 8651282

Title: Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

PubMed ID: 8651282

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23152787

Title: Human trifunctional protein alpha links cardiolipin remodeling to beta-oxidation.

PubMed ID: 23152787

DOI: 10.1371/journal.pone.0048628

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29915090

Title: Cryo-EM structure of human mitochondrial trifunctional protein.

PubMed ID: 29915090

DOI: 10.1073/pnas.1801252115

PubMed ID: 30850536

Title: Crystal structure of human mitochondrial trifunctional protein, a fatty acid beta-oxidation metabolon.

PubMed ID: 30850536

DOI: 10.1073/pnas.1816317116

PubMed ID: 7811722

Title: Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.

PubMed ID: 7811722

DOI: 10.1016/0005-2760(94)90064-7

PubMed ID: 7846063

Title: The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

PubMed ID: 7846063

DOI: 10.1073/pnas.92.3.841

PubMed ID: 8770876

Title: Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.

PubMed ID: 8770876

DOI: 10.1172/jci118863

PubMed ID: 9266371

Title: Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.

PubMed ID: 9266371

DOI: 10.1023/a:1005310903004

PubMed ID: 9739053

Title: Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

PubMed ID: 9739053

DOI: 10.1172/jci2091

Sequence Information:

  • Length: 763
  • Mass: 83000
  • Checksum: 247FF7B4E48FB484
  • Sequence:
    • MVACRAIGIL SRFSAFRILR SRGYICRNFT GSSALLTRTH INYGVKGDVA VVRINSPNSK 
VNTLSKELHS EFSEVMNEIW ASDQIRSAVL ISSKPGCFIA GADINMLAAC KTLQEVTQLS 
QEAQRIVEKL EKSTKPIVAA INGSCLGGGL EVAISCQYRI ATKDRKTVLG TPEVLLGALP 
GAGGTQRLPK MVGVPAALDM MLTGRSIRAD RAKKMGLVDQ LVEPLGPGLK PPEERTIEYL 
EEVAITFAKG LADKKISPKR DKGLVEKLTA YAMTIPFVRQ QVYKKVEEKV RKQTKGLYPA 
PLKIIDVVKT GIEQGSDAGY LCESQKFGEL VMTKESKALM GLYHGQVLCK KNKFGAPQKD 
VKHLAILGAG LMGAGIAQVS VDKGLKTILK DATLTALDRG QQQVFKGLND KVKKKALTSF 
ERDSIFSNLT GQLDYQGFEK ADMVIEAVFE DLSLKHRVLK EVEAVIPDHC IFASNTSALP 
ISEIAAVSKR PEKVIGMHYF SPVDKMQLLE IITTEKTSKD TSASAVAVGL KQGKVIIVVK 
DGPGFYTTRC LAPMMSEVIR ILQEGVDPKK LDSLTTSFGF PVGAATLVDE VGVDVAKHVA 
EDLGKVFGER FGGGNPELLT QMVSKGFLGR KSGKGFYIYQ EGVKRKDLNS DMDSILASLK 
LPPKSEVSSD EDIQFRLVTR FVNEAVMCLQ EGILATPAEG DIGAVFGLGF PPCLGGPFRF 
VDLYGAQKIV DRLKKYEAAY GKQFTPCQLL ADHANSPNKK FYQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.