Details for: EHHADH

Gene ID: 1962

Symbol: EHHADH

Ensembl ID: ENSG00000113790

Description: enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

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: 59.4682
    Cell Significance Index: -9.2500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 35.7983
    Cell Significance Index: -9.0800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 7.6645
    Cell Significance Index: -9.4500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.7495
    Cell Significance Index: 46.3200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.4024
    Cell Significance Index: -9.4800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.9677
    Cell Significance Index: 390.5000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.5182
    Cell Significance Index: 150.1900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.2559
    Cell Significance Index: 1133.9600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1467
    Cell Significance Index: 68.8400
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.1189
    Cell Significance Index: 9.5100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.0371
    Cell Significance Index: 112.8000
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.9285
    Cell Significance Index: 15.3000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8230
    Cell Significance Index: 133.8500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5759
    Cell Significance Index: 39.8300
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.5677
    Cell Significance Index: 4.3400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5031
    Cell Significance Index: 10.9000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.4831
    Cell Significance Index: 7.1300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4064
    Cell Significance Index: 31.1900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3544
    Cell Significance Index: 10.2100
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.3359
    Cell Significance Index: 4.2300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2910
    Cell Significance Index: 52.4600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2874
    Cell Significance Index: 33.4900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2606
    Cell Significance Index: 13.5400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2522
    Cell Significance Index: 11.4300
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.2509
    Cell Significance Index: 1.4500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2464
    Cell Significance Index: 6.1600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2086
    Cell Significance Index: 5.5900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1990
    Cell Significance Index: 37.8800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.1934
    Cell Significance Index: 2.7200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1825
    Cell Significance Index: 5.1000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1421
    Cell Significance Index: 28.5100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1183
    Cell Significance Index: 2.5200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1063
    Cell Significance Index: 13.0700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0821
    Cell Significance Index: 2.6300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0742
    Cell Significance Index: 3.4600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0651
    Cell Significance Index: 1.3500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0605
    Cell Significance Index: 33.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0498
    Cell Significance Index: 93.8100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0389
    Cell Significance Index: 26.9300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0364
    Cell Significance Index: 13.0500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0280
    Cell Significance Index: 51.5800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0271
    Cell Significance Index: 12.0000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0264
    Cell Significance Index: 16.7700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.0259
    Cell Significance Index: 2.0500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0233
    Cell Significance Index: 35.9100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0199
    Cell Significance Index: 0.7000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0167
    Cell Significance Index: 22.6400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0158
    Cell Significance Index: 2.7000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0119
    Cell Significance Index: 1.6300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0090
    Cell Significance Index: 6.6000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0005
    Cell Significance Index: 0.0100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0043
    Cell Significance Index: -0.6300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0064
    Cell Significance Index: -0.1100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0085
    Cell Significance Index: -3.8400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0095
    Cell Significance Index: -7.0500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0096
    Cell Significance Index: -7.2700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0159
    Cell Significance Index: -8.9800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0176
    Cell Significance Index: -0.2600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0176
    Cell Significance Index: -10.9600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0180
    Cell Significance Index: -1.8400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0199
    Cell Significance Index: -5.7300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0206
    Cell Significance Index: -0.1900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0233
    Cell Significance Index: -1.3100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0270
    Cell Significance Index: -0.7200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0308
    Cell Significance Index: -2.1800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0400
    Cell Significance Index: -4.5800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0404
    Cell Significance Index: -5.1800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0502
    Cell Significance Index: -10.5700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0536
    Cell Significance Index: -2.3700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0540
    Cell Significance Index: -3.3200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0669
    Cell Significance Index: -4.1000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0681
    Cell Significance Index: -8.8000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0744
    Cell Significance Index: -5.0000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0755
    Cell Significance Index: -1.0300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0765
    Cell Significance Index: -9.0200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0811
    Cell Significance Index: -3.0700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0812
    Cell Significance Index: -8.4600
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0920
    Cell Significance Index: -1.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0936
    Cell Significance Index: -4.4000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0950
    Cell Significance Index: -2.0800
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0975
    Cell Significance Index: -1.6400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1020
    Cell Significance Index: -1.4600
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.1081
    Cell Significance Index: -1.0900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1138
    Cell Significance Index: -8.4900
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1232
    Cell Significance Index: -1.5800
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.1263
    Cell Significance Index: -0.5500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1315
    Cell Significance Index: -8.2900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1373
    Cell Significance Index: -4.7700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1414
    Cell Significance Index: -9.1200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1517
    Cell Significance Index: -4.1300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1613
    Cell Significance Index: -8.4700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1649
    Cell Significance Index: -3.5300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1819
    Cell Significance Index: -4.6800
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.1824
    Cell Significance Index: -2.5500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1867
    Cell Significance Index: -6.5400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1891
    Cell Significance Index: -5.5700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1905
    Cell Significance Index: -2.8600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1924
    Cell Significance Index: -5.4900
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1961
    Cell Significance Index: -8.5300
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: -0.1978
    Cell Significance Index: -1.8800

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:** The EHHADH gene is a member of the peroxisomal matrix, where it is involved in the degradation of fatty acids. The enzyme is composed of two subunits, which are encoded by separate genes: ECHP_HUMAN (Multifunctional enzyme 1) and ECHP2_HUMAN. The EHHADH enzyme exhibits a wide range of activities, including enoyl-CoA hydratase, 3-hydroxyacyl CoA dehydrogenase, and delta(3)-delta(2)-enoyl-CoA isomerase. These activities are essential for the degradation of very long-chain fatty acids, which are produced during the synthesis of triglycerides. **Pathways and Functions:** The EHHADH enzyme is involved in several key pathways, including: 1. **Beta-oxidation of very long-chain fatty acids**: This pathway involves the sequential breakdown of very long-chain fatty acids into shorter-chain fatty acids, which can be further metabolized for energy production. 2. **Fatty acid beta-oxidation using acyl-CoA oxidase**: This pathway involves the use of acyl-CoA oxidase to convert fatty acids into acyl-CoA, which is then further metabolized by the EHHADH enzyme. 3. **Peroxisomal lipid metabolism**: This pathway involves the degradation of fatty acids in the peroxisome, where the EHHADH enzyme plays a crucial role. **Functions:** The EHHADH enzyme has several key functions, including: 1. **Energy production**: The degradation of fatty acids by the EHHADH enzyme contributes to energy production in various tissues, including the liver, kidney, and brain. 2. **Lipid homeostasis**: The EHHADH enzyme plays a crucial role in maintaining lipid homeostasis by regulating the degradation of fatty acids. 3. **Detoxification**: The EHHADH enzyme is involved in the detoxification of fatty acids, which can accumulate in tissues and contribute to various diseases. **Clinical Significance:** Dysregulation of the EHHADH gene has been implicated in various diseases, including: 1. **Neurodegenerative disorders**: Mutations in the EHHADH gene have been associated with neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. 2. **Metabolic disorders**: Dysregulation of the EHHADH gene has been implicated in metabolic disorders, such as obesity and type 2 diabetes. 3. **Liver disease**: The EHHADH enzyme plays a crucial role in liver function, and dysregulation of the EHHADH gene has been associated with liver disease. In conclusion, the EHHADH gene plays a crucial role in fatty acid metabolism, energy production, and lipid homeostasis. Dysregulation of the EHHADH gene has been implicated in various diseases, highlighting the importance of this gene in human health. Further research is needed to fully understand the role of the EHHADH gene and its implications for human disease.

Genular Protein ID: 3060535352

Symbol: ECHP_HUMAN

Name: Multifunctional enzyme 1

UniProtKB Accession Codes:

Q08426 A8K6Y3 B4DWG3 D3DNU0 Q58EZ5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 55 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 6 EMBL 18 Ensembl 2 ExpressionAtlas 1 GO 13 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 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 RNAct 1 Reactome 2 RefSeq 3 Rhea 36 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8188243

Title: cDNA cloning of the human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme and localization to chromosome 3q26.3-3q28: a free left Alu Arm is inserted in the 3' noncoding region.

PubMed ID: 8188243

DOI: 10.1006/geno.1994.1013

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

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: 1651711

Title: Import of human bifunctional enzyme into peroxisomes of human hepatoma cells in vitro.

PubMed ID: 1651711

DOI: 10.1016/0006-291x(91)91003-u

PubMed ID: 3469675

Title: Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy.

PubMed ID: 3469675

DOI: 10.1073/pnas.84.5.1425

PubMed ID: 15060085

Title: Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids.

PubMed ID: 15060085

DOI: 10.1194/jlr.m300512-jlr200

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: 20167786

Title: Regulation of cellular metabolism by protein lysine acetylation.

PubMed ID: 20167786

DOI: 10.1126/science.1179689

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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: 24401050

Title: Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

PubMed ID: 24401050

DOI: 10.1056/nejmoa1307581

Sequence Information:

  • Length: 723
  • Mass: 79495
  • Checksum: FC3B44B030A7BCBD
  • Sequence:
    • MAEYTRLHNA LALIRLRNPP VNAISTTLLR DIKEGLQKAV IDHTIKAIVI CGAEGKFSAG 
ADIRGFSAPR TFGLTLGHVV DEIQRNEKPV VAAIQGMAFG GGLELALGCH YRIAHAEAQV 
GLPEVTLGLL PGARGTQLLP RLTGVPAALD LITSGRRILA DEALKLGILD KVVNSDPVEE 
AIRFAQRVSD QPLESRRLCN KPIQSLPNMD SIFSEALLKM RRQHPGCLAQ EACVRAVQAA 
VQYPYEVGIK KEEELFLYLL QSGQARALQY AFFAERKANK WSTPSGASWK TASARPVSSV 
GVVGLGTMGR GIVISFARAR IPVIAVDSDK NQLATANKMI TSVLEKEASK MQQSGHPWSG 
PKPRLTSSVK ELGGVDLVIE AVFEEMSLKK QVFAELSAVC KPEAFLCTNT SALDVDEIAS 
STDRPHLVIG THFFSPAHVM KLLEVIPSQY SSPTTIATVM NLSKKIKKIG VVVGNCFGFV 
GNRMLNPYYN QAYFLLEEGS KPEEVDQVLE EFGFKMGPFR VSDLAGLDVG WKSRKGQGLT 
GPTLLPGTPA RKRGNRRYCP IPDVLCELGR FGQKTGKGWY QYDKPLGRIH KPDPWLSKFL 
SRYRKTHHIE PRTISQDEIL ERCLYSLINE AFRILGEGIA ASPEHIDVVY LHGYGWPRHK 
GGPMFYASTV GLPTVLEKLQ KYYRQNPDIP QLEPSDYLKK LASQGNPPLK EWQSLAGSPS 
SKL

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.