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)

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

  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.91
    Marker Score: 10291
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.84
    Marker Score: 6545
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.82
    Marker Score: 11687
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.69
    Marker Score: 7312
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.59
    Marker Score: 5210
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169160
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.32
    Marker Score: 3120
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71808
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48033
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 501
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.97
    Marker Score: 1035.5
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 454
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2734
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.9
    Marker Score: 5144
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.86
    Marker Score: 590
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.8
    Marker Score: 12483
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.79
    Marker Score: 440
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.78
    Marker Score: 16733
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 590.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 389
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.73
    Marker Score: 291
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.71
    Marker Score: 256
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 649
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 175
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.67
    Marker Score: 2793
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.65
    Marker Score: 1322
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.64
    Marker Score: 1236
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.63
    Marker Score: 198
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.6
    Marker Score: 1525
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.58
    Marker Score: 448
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.58
    Marker Score: 2427
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.58
    Marker Score: 12943
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.57
    Marker Score: 183
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.56
    Marker Score: 326
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.56
    Marker Score: 510.5
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.56
    Marker Score: 481
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 440
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.55
    Marker Score: 208
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.55
    Marker Score: 589
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.52
    Marker Score: 1859
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.52
    Marker Score: 333
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.51
    Marker Score: 2425
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.5
    Marker Score: 881
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.49
    Marker Score: 128
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.48
    Marker Score: 179
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.47
    Marker Score: 634
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.47
    Marker Score: 1259
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.47
    Marker Score: 2817
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.46
    Marker Score: 276
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.46
    Marker Score: 166
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.44
    Marker Score: 417
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.43
    Marker Score: 210
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.42
    Marker Score: 103
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.42
    Marker Score: 111
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.42
    Marker Score: 421
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.42
    Marker Score: 153
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.41
    Marker Score: 640.5
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.41
    Marker Score: 575
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.4
    Marker Score: 193
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.4
    Marker Score: 118
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.39
    Marker Score: 2508
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.39
    Marker Score: 1342
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.38
    Marker Score: 382
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.38
    Marker Score: 459
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.38
    Marker Score: 153
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.38
    Marker Score: 381
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.37
    Marker Score: 127
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.37
    Marker Score: 101
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.37
    Marker Score: 74
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.36
    Marker Score: 191
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.36
    Marker Score: 208
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.36
    Marker Score: 1116
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.35
    Marker Score: 231
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.34
    Marker Score: 144
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.34
    Marker Score: 504
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.34
    Marker Score: 426
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.34
    Marker Score: 427
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.34
    Marker Score: 223
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.33
    Marker Score: 316
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.31
    Marker Score: 562.5
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.3
    Marker Score: 112
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.3
    Marker Score: 269
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.3
    Marker Score: 123
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3
    Marker Score: 626
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.3
    Marker Score: 124
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.3
    Marker Score: 110
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.3
    Marker Score: 701
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.29
    Marker Score: 73
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.29
    Marker Score: 2726
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.29
    Marker Score: 1138
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.29
    Marker Score: 479
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.29
    Marker Score: 167
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.29
    Marker Score: 523
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.29
    Marker Score: 357
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.28
    Marker Score: 193

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Other Information

**Key characteristics** * The EHHADH gene is located on chromosome 15q23.1. * It is a multi-functional enzyme that has been shown to have activity in both the mitochondria and the cytoplasm. * The protein is a glycoprotein with a molecular weight of approximately 150 kDa. * It is expressed in a variety of cell types, including hepatocytes, kidney cells, and brain cells. **Pathways and functions** * EHHADH is involved in the following pathways: * The beta-oxidation of very long chain fatty acids * The metabolism of lipids * The regulation of lipid metabolism * It is involved in the regulation of lipid metabolism by controlling the flux of VLCFA between the mitochondria and the cytoplasm. * It is also involved in the metabolism of other fatty acids, including linoleic acid and palmitoyl chloride. **Clinical significance** Mutations in the EHHADH gene have been linked to a number of human diseases, including hepatic steatosis, non-alcoholic steatohepatitis, and liver cancer. These diseases are characterized by the accumulation of fat in the liver, which can lead to liver damage and failure. **Conclusion** The EHHADH gene is an important regulator of lipid metabolism. Its mutations can lead to a number of human diseases, highlighting its importance in maintaining normal lipid homeostasis.

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 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 13 Gene3D 2 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 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 UniProtKB 2 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. For the full schema, download it here.