Details for: ECHS1

Gene ID: 1892

Symbol: ECHS1

Ensembl ID: ENSG00000127884

Description: enoyl-CoA hydratase, short chain 1

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: 325.9502
    Cell Significance Index: -50.7000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 175.1278
    Cell Significance Index: -44.4200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 139.4352
    Cell Significance Index: -57.4400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 120.4560
    Cell Significance Index: -56.8700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 117.6841
    Cell Significance Index: -47.8100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 107.9152
    Cell Significance Index: -55.5100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 84.7513
    Cell Significance Index: -56.8700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 50.9457
    Cell Significance Index: -48.6400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 45.2571
    Cell Significance Index: -55.8000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 14.5082
    Cell Significance Index: -57.2500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 13.6588
    Cell Significance Index: -36.5900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 12.1734
    Cell Significance Index: -37.3900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 7.9756
    Cell Significance Index: 73.4500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 3.7168
    Cell Significance Index: 85.8700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 3.6566
    Cell Significance Index: 29.2000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.7232
    Cell Significance Index: 490.9100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.5948
    Cell Significance Index: 120.9800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.3664
    Cell Significance Index: 290.9800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.2610
    Cell Significance Index: 117.4500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.1564
    Cell Significance Index: 1177.6600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.9351
    Cell Significance Index: 124.8500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.8802
    Cell Significance Index: 49.4400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.7301
    Cell Significance Index: 60.1200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.7184
    Cell Significance Index: 235.9900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.4281
    Cell Significance Index: 1289.4600
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: 1.3239
    Cell Significance Index: 27.6100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.3177
    Cell Significance Index: 214.3100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.1915
    Cell Significance Index: 84.2700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.1685
    Cell Significance Index: 54.9200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.9959
    Cell Significance Index: 20.8500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.9477
    Cell Significance Index: 419.0100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.8221
    Cell Significance Index: 61.2700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.8030
    Cell Significance Index: 21.4400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7946
    Cell Significance Index: 157.7000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.7061
    Cell Significance Index: 91.2300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.6908
    Cell Significance Index: 88.5600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.6289
    Cell Significance Index: 33.0200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.5988
    Cell Significance Index: 6.5100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5606
    Cell Significance Index: 25.4100
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.5562
    Cell Significance Index: 5.9100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4332
    Cell Significance Index: 86.8900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4208
    Cell Significance Index: 49.6200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3951
    Cell Significance Index: 67.4600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.3600
    Cell Significance Index: 18.7500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3564
    Cell Significance Index: 67.8200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3217
    Cell Significance Index: 8.9900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2332
    Cell Significance Index: 7.4700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2248
    Cell Significance Index: 22.2400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.1822
    Cell Significance Index: 2.7300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.1791
    Cell Significance Index: 5.2600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.1627
    Cell Significance Index: 119.3100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.1426
    Cell Significance Index: 11.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1241
    Cell Significance Index: 44.5300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0885
    Cell Significance Index: 2.4100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0825
    Cell Significance Index: 2.9000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0793
    Cell Significance Index: 59.9900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.0757
    Cell Significance Index: 1.1500
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.0670
    Cell Significance Index: 0.9400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0417
    Cell Significance Index: 2.6300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0329
    Cell Significance Index: 0.5500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0038
    Cell Significance Index: -2.7900
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0074
    Cell Significance Index: -0.1000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0121
    Cell Significance Index: -22.7400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0207
    Cell Significance Index: -38.1500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0214
    Cell Significance Index: -32.8900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0257
    Cell Significance Index: -34.9000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0294
    Cell Significance Index: -3.0000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0294
    Cell Significance Index: -18.3700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0539
    Cell Significance Index: -34.2100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0607
    Cell Significance Index: -12.7800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0644
    Cell Significance Index: -36.3400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1080
    Cell Significance Index: -49.0200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1086
    Cell Significance Index: -12.4400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1092
    Cell Significance Index: -1.2400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1544
    Cell Significance Index: -44.4400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1957
    Cell Significance Index: -5.0000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2047
    Cell Significance Index: -5.4900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2429
    Cell Significance Index: -28.3100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2700
    Cell Significance Index: -5.8500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2826
    Cell Significance Index: -4.7600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3092
    Cell Significance Index: -44.9500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3966
    Cell Significance Index: -45.2700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4119
    Cell Significance Index: -5.6200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.4282
    Cell Significance Index: -6.3200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4349
    Cell Significance Index: -26.7300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4465
    Cell Significance Index: -13.1500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4755
    Cell Significance Index: -31.9700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.4962
    Cell Significance Index: -29.7900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5065
    Cell Significance Index: -12.6600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5424
    Cell Significance Index: -56.4800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.5499
    Cell Significance Index: -5.6900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.5848
    Cell Significance Index: -44.8800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.6331
    Cell Significance Index: -16.9400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.7023
    Cell Significance Index: -39.4100
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.7759
    Cell Significance Index: -13.0500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.7839
    Cell Significance Index: -22.4700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.8007
    Cell Significance Index: -49.0900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.9848
    Cell Significance Index: -28.3800
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -1.0000
    Cell Significance Index: -8.4000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -1.0415
    Cell Significance Index: -19.2500

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. **Enzyme Function:** ECHS1 is a mitochondrial enzyme that catalyzes the hydration of enoyl-CoA to hydroxyacyl-CoA, a critical step in the beta-oxidation of fatty acids. 2. **Expression Pattern:** ECHS1 is highly expressed in cells involved in fatty acid metabolism, including epithelial cells of the proximal tubule, acinar cells of the salivary gland, and enterocytes. 3. **Cellular Localization:** ECHS1 is primarily localized to the mitochondrial matrix, where it plays a key role in fatty acid beta-oxidation. 4. **Pathway Involvement:** ECHS1 is involved in several key pathways, including beta-oxidation of butanoyl-CoA to acetyl-CoA, branched-chain amino acid catabolism, and mitochondrial fatty acid beta-oxidation. **Pathways and Functions:** ECHS1 is a central component of the beta-oxidation pathway, which is essential for the breakdown of fatty acids into acetyl-CoA units. The enzyme's primary function is to convert enoyl-CoA to hydroxyacyl-CoA, a reaction that is critical for the continuation of beta-oxidation. Additionally, ECHS1 is involved in the catabolism of branched-chain amino acids, which are important for protein synthesis. The beta-oxidation pathway, in which ECHS1 plays a key role, is a complex process that involves the sequential removal of two-carbon units from fatty acids. This process is crucial for energy production, as it allows fatty acids to be converted into acetyl-CoA units, which can then be fed into the citric acid cycle to produce energy. **Clinical Significance:** Alterations in ECHS1 expression have been linked to various diseases, including: 1. **Metabolic Disorders:** Mutations in ECHS1 have been associated with metabolic disorders, such as obesity and insulin resistance. 2. **Cancer:** ECHS1 has been implicated in the development and progression of certain types of cancer, including breast and colon cancer. 3. **Neurological Disorders:** ECHS1 has been linked to neurological disorders, such as Alzheimer's disease and Parkinson's disease. In summary, ECHS1 is a critical gene that plays a pivotal role in fatty acid metabolism and beyond. Its alterations have been linked to various diseases, highlighting the importance of this gene in human health and disease. Further research is needed to fully elucidate the mechanisms by which ECHS1 influences disease progression and to develop effective therapeutic strategies for ECHS1-related disorders.

Genular Protein ID: 1578921974

Symbol: ECHM_HUMAN

Name: Enoyl-CoA hydratase 1

UniProtKB Accession Codes:

P30084 O00739 Q5VWY1 Q96H54

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 CTD 1 ChEBI 28 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 5 EC 2 EMBL 8 Ensembl 1 EvolutionaryTrace 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRIDE 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 2 RNAct 1 Reactome 6 RefSeq 1 Rhea 20 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8012501

Title: Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase.

PubMed ID: 8012501

DOI: 10.1159/000468650

PubMed ID: 9073515

Title: Human mitochondrial enoyl-CoA hydratase gene (ECHS1): structural organization and assignment to chromosome 10q26.2-q26.3.

PubMed ID: 9073515

DOI: 10.1006/geno.1996.4597

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

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: 1286669

Title: Human liver protein map: a reference database established by microsequencing and gel comparison.

PubMed ID: 1286669

DOI: 10.1002/elps.11501301201

PubMed ID: 11271497

Title: Human ERp29: isolation, primary structural characterisation and two-dimensional gel mapping.

PubMed ID: 11271497

DOI: 10.1002/1522-2683(200011)21:17<3785::aid-elps3785>3.0.co;2-2

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: 25125611

Title: ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

PubMed ID: 25125611

DOI: 10.1093/brain/awu216

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: 25393721

Title: ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

PubMed ID: 25393721

DOI: 10.1002/humu.22730

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26000322

Title: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

PubMed ID: 26000322

DOI: 10.1002/acn3.189

PubMed ID: 26251176

Title: Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.

PubMed ID: 26251176

DOI: 10.1136/jmedgenet-2015-103231

PubMed ID: 27221955

Title: Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

PubMed ID: 27221955

DOI: 10.1007/s11011-016-9842-x

PubMed ID: 26741492

Title: A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies.

PubMed ID: 26741492

DOI: 10.1371/journal.pgen.1005679

Sequence Information:

  • Length: 290
  • Mass: 31387
  • Checksum: 0CCD0C7F891B1704
  • Sequence:
    • MAALRVLLSC VRGPLRPPVR CPAWRPFASG ANFEYIIAEK RGKNNTVGLI QLNRPKALNA 
LCDGLIDELN QALKTFEEDP AVGAIVLTGG DKAFAAGADI KEMQNLSFQD CYSSKFLKHW 
DHLTQVKKPV IAAVNGYAFG GGCELAMMCD IIYAGEKAQF AQPEILIGTI PGAGGTQRLT 
RAVGKSLAME MVLTGDRISA QDAKQAGLVS KICPVETLVE EAIQCAEKIA SNSKIVVAMA 
KESVNAAFEM TLTEGSKLEK KLFYSTFATD DRKEGMTAFV EKRKANFKDQ

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.