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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 396.2192
    Cell Significance Index: -61.6300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 233.3591
    Cell Significance Index: -59.1900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 209.9539
    Cell Significance Index: -86.4900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 179.3496
    Cell Significance Index: -84.6800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 178.6061
    Cell Significance Index: -72.5600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 162.5241
    Cell Significance Index: -83.6000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 126.2179
    Cell Significance Index: -84.7000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 76.2195
    Cell Significance Index: -72.7700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 61.1214
    Cell Significance Index: -75.3600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 27.0600
    Cell Significance Index: -72.4900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 20.4711
    Cell Significance Index: -80.7800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 17.4347
    Cell Significance Index: -53.5500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 13.8171
    Cell Significance Index: -30.2400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.6131
    Cell Significance Index: 471.0600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.4677
    Cell Significance Index: 303.4300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.3130
    Cell Significance Index: 21.3000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.0614
    Cell Significance Index: 283.0900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.8893
    Cell Significance Index: 1705.8700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.8418
    Cell Significance Index: 130.2600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.7996
    Cell Significance Index: 51.8500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.5976
    Cell Significance Index: 173.7700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.5915
    Cell Significance Index: 43.3200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.5821
    Cell Significance Index: 313.9800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.5331
    Cell Significance Index: 117.6500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.4176
    Cell Significance Index: 183.1500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.4018
    Cell Significance Index: 65.3600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.3895
    Cell Significance Index: 614.3500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.3736
    Cell Significance Index: 62.2600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.2812
    Cell Significance Index: 699.7100
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.2543
    Cell Significance Index: 19.0500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.2350
    Cell Significance Index: 25.8500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.2276
    Cell Significance Index: 32.7800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.1614
    Cell Significance Index: 74.9300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.0702
    Cell Significance Index: 126.2200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.9826
    Cell Significance Index: 46.1800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9687
    Cell Significance Index: 50.3200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.9390
    Cell Significance Index: 24.6900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.8919
    Cell Significance Index: 23.9000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.8467
    Cell Significance Index: 15.6500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.7411
    Cell Significance Index: 55.2300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.7167
    Cell Significance Index: 143.7600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.6631
    Cell Significance Index: 113.2200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.6554
    Cell Significance Index: 9.8200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.6003
    Cell Significance Index: 17.6300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.5547
    Cell Significance Index: 8.1900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5477
    Cell Significance Index: 70.2100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.5372
    Cell Significance Index: 12.4100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4788
    Cell Significance Index: 77.8700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4307
    Cell Significance Index: 297.8700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3919
    Cell Significance Index: 140.5800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.3569
    Cell Significance Index: 3.8800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3333
    Cell Significance Index: 32.9700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3171
    Cell Significance Index: 60.3400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2275
    Cell Significance Index: 8.0000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.1458
    Cell Significance Index: 16.7000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0859
    Cell Significance Index: 62.9900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0534
    Cell Significance Index: 100.6200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0531
    Cell Significance Index: 0.9000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0098
    Cell Significance Index: 0.6800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0072
    Cell Significance Index: 0.1200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0177
    Cell Significance Index: -32.7200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0280
    Cell Significance Index: -43.0700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0332
    Cell Significance Index: -0.8100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0361
    Cell Significance Index: -27.3600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0378
    Cell Significance Index: -28.0100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0437
    Cell Significance Index: -1.2200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0451
    Cell Significance Index: -2.7700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0482
    Cell Significance Index: -65.5900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0490
    Cell Significance Index: -31.1300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0506
    Cell Significance Index: -5.1700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0507
    Cell Significance Index: -31.6800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0784
    Cell Significance Index: -35.6000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0837
    Cell Significance Index: -47.2100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1174
    Cell Significance Index: -4.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1856
    Cell Significance Index: -39.1000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2368
    Cell Significance Index: -68.1400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2956
    Cell Significance Index: -42.9700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.3206
    Cell Significance Index: -5.6700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3774
    Cell Significance Index: -19.6600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3827
    Cell Significance Index: -44.6000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4288
    Cell Significance Index: -9.2900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4909
    Cell Significance Index: -12.5400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5421
    Cell Significance Index: -28.4600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5711
    Cell Significance Index: -14.6800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5986
    Cell Significance Index: -37.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.6225
    Cell Significance Index: -34.9300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.6335
    Cell Significance Index: -20.2900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.6589
    Cell Significance Index: -12.8600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6613
    Cell Significance Index: -16.5300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.6641
    Cell Significance Index: -75.8100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.6646
    Cell Significance Index: -11.3900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.7200
    Cell Significance Index: -74.9700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.7625
    Cell Significance Index: -51.2700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.7796
    Cell Significance Index: -39.4000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.7805
    Cell Significance Index: -61.8200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.8993
    Cell Significance Index: -25.7800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.9203
    Cell Significance Index: -55.2500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.9668
    Cell Significance Index: -11.5300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.9671
    Cell Significance Index: -14.2800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.9945
    Cell Significance Index: -60.9700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Multifunctional enzyme:** HADHA is a trifunctional enzyme that catalyzes the oxidation of various fatty acids, including saturated and unsaturated fatty acids. 2. **Mitochondrial localization:** HADHA is primarily localized to the mitochondrial inner membrane, where it participates in the regulation of fatty acid metabolism. 3. **High expression levels:** HADHA is highly expressed in various cell types, including skeletal muscle satellite stem cells, blood cells, and enterocytes. 4. **Regulation of energy homeostasis:** HADHA plays a critical role in maintaining energy homeostasis by regulating fatty acid metabolism and energy production. **Pathways and Functions:** 1. **Beta-oxidation:** HADHA is involved in the beta-oxidation of various fatty acids, including saturated and unsaturated fatty acids. 2. **Cardiolipin acyl-chain remodeling:** HADHA participates in the remodeling of cardiolipin acyl-chains, which is essential for maintaining mitochondrial function and integrity. 3. **Glycerophospholipid biosynthesis:** HADHA is involved in the biosynthesis of glycerophospholipids, which are essential components of cellular membranes. 4. **Fatty acid metabolism:** HADHA plays a critical role in regulating fatty acid metabolism, including the oxidation of fatty acids and the synthesis of fatty acid-derived compounds. **Clinical Significance:** 1. **Metabolic disorders:** Mutations in the HADHA gene have been associated with metabolic disorders, including fatty acid oxidation disorders and mitochondrial myopathies. 2. **Energy metabolism:** HADHA plays a critical role in regulating energy metabolism, and alterations in its expression or function can lead to changes in energy homeostasis. 3. **Cancer and inflammation:** HADHA has been implicated in the regulation of cancer cell metabolism and inflammation, highlighting its potential as a therapeutic target. 4. **Neurological disorders:** HADHA has been linked to neurological disorders, including Alzheimer's disease and Parkinson's disease, suggesting its potential role in regulating energy metabolism and neuroprotection. In conclusion, HADHA is a multifaceted gene that plays a critical role in regulating fatty acid metabolism and energy homeostasis. Its high expression levels and involvement in multiple metabolic pathways highlight its importance in maintaining overall metabolic health. Further research is needed to fully elucidate the role of HADHA in disease and to explore its potential as a therapeutic target.

Genular Protein ID: 104740987

Symbol: ECHA_HUMAN

Name: Trifunctional enzyme subunit alpha, mitochondrial

UniProtKB Accession Codes:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.