Details for: ECHS1

Gene ID: 1892

Symbol: ECHS1

Ensembl ID: ENSG00000127884

Description: enoyl-CoA hydratase, short chain 1

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: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 3.23
    Marker Score: 11470
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.73
    Marker Score: 6217
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.54
    Marker Score: 4216.5
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.5
    Marker Score: 12004
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.47
    Marker Score: 7744
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.44
    Marker Score: 84414
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.33
    Marker Score: 20077
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.3
    Marker Score: 6173.5
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.28
    Marker Score: 5752
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 2.21
    Marker Score: 4619
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.2
    Marker Score: 8648.5
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 2.2
    Marker Score: 17183
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 2.17
    Marker Score: 1809
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 2.15
    Marker Score: 2599.5
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 2.13
    Marker Score: 1897
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.1
    Marker Score: 3094
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 2.06
    Marker Score: 8448
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 2.03
    Marker Score: 7523.5
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.03
    Marker Score: 3126
  • Cell Name: stem cell (CL0000034)
    Fold Change: 2.02
    Marker Score: 4797
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 2.02
    Marker Score: 805
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 2.02
    Marker Score: 1346
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 2.02
    Marker Score: 1038
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.01
    Marker Score: 20388
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 2.01
    Marker Score: 2122
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.99
    Marker Score: 3158
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.96
    Marker Score: 2041.5
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.92
    Marker Score: 14321.5
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.88
    Marker Score: 3201.5
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.88
    Marker Score: 1993
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.86
    Marker Score: 870
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.86
    Marker Score: 20913
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.85
    Marker Score: 2981
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.84
    Marker Score: 18501.5
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.84
    Marker Score: 5003.5
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.84
    Marker Score: 2598
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.83
    Marker Score: 1010.5
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.83
    Marker Score: 7900.5
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.82
    Marker Score: 1933
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.82
    Marker Score: 679
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.81
    Marker Score: 524
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.8
    Marker Score: 4083
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.79
    Marker Score: 2095
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.79
    Marker Score: 1816
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.76
    Marker Score: 3215
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.74
    Marker Score: 11107
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.74
    Marker Score: 1954
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.74
    Marker Score: 11287
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.73
    Marker Score: 1864
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.72
    Marker Score: 9264
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.69
    Marker Score: 537
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.65
    Marker Score: 387
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.64
    Marker Score: 1650
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.64
    Marker Score: 1701.5
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.64
    Marker Score: 1111
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.64
    Marker Score: 815
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.63
    Marker Score: 1565
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.62
    Marker Score: 2093
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.62
    Marker Score: 21352
  • Cell Name: tracheobronchial serous cell (CL0019001)
    Fold Change: 1.6
    Marker Score: 584
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.6
    Marker Score: 2619
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.59
    Marker Score: 783
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 1.59
    Marker Score: 311
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.58
    Marker Score: 595
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.58
    Marker Score: 4359
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.58
    Marker Score: 10271
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.56
    Marker Score: 861
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.56
    Marker Score: 3671.5
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.53
    Marker Score: 1442
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.53
    Marker Score: 2200
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.52
    Marker Score: 1628
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.52
    Marker Score: 430
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 1.52
    Marker Score: 809.5
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.52
    Marker Score: 3080
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.5
    Marker Score: 5800
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.49
    Marker Score: 1982.5
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.49
    Marker Score: 1402
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.49
    Marker Score: 2791
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.48
    Marker Score: 2285
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.48
    Marker Score: 989
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.47
    Marker Score: 485
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.47
    Marker Score: 3841
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 1.46
    Marker Score: 978
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.46
    Marker Score: 348
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 1.45
    Marker Score: 370
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.45
    Marker Score: 37168
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.45
    Marker Score: 3940
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.45
    Marker Score: 7611
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.45
    Marker Score: 6239
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.44
    Marker Score: 685
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.44
    Marker Score: 165566
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 1.44
    Marker Score: 498
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.43
    Marker Score: 16653
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 1.43
    Marker Score: 1079
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.43
    Marker Score: 2023
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.43
    Marker Score: 2529
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.42
    Marker Score: 478
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.42
    Marker Score: 2478
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.42
    Marker Score: 1492
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.42
    Marker Score: 593

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** - ECHS1 is a protein with a molecular weight of approximately 58 kDa. - It is a member of the enoyl-CoA hydratase family of enzymes. - ECHS1 is expressed in both humans and mice. **Pathways and functions:** - ECHS1 is involved in multiple metabolic pathways, including fatty acid metabolism, the biosynthesis of choline, and the degradation of branched-chain amino acids. - It catalyzes the hydration of enoyl-CoA to 3-hydroxypropionyl-CoA, which is an intermediate in the synthesis of choline. - It also participates in the beta oxidation of various fatty acids, including butanoyl-CoA, decanoyl-CoA, octanoyl-CoA, and lauroyl-CoA. - These reactions are essential for the metabolism of dietary fats and the synthesis of membrane lipids. **Clinical significance:** - Mutations in ECHS1 have been linked to several human diseases, including hyperalphalipoproteinemia, which is characterized by high levels of low-density lipoprotein (LDL) cholesterol in the blood. - These mutations can also cause liver damage and other health problems. - Therefore, ECHS1 is an important target for the treatment of hyperalphalipoproteinemia.

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 DOSAC-COBS-2DPAGE 1 DisGeNET 1 DrugBank 5 EC 2 EMBL 8 EPD 1 Ensembl 1 EvolutionaryTrace 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 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 SWISS-2DPAGE 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TopDownProteomics 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: 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. For the full schema, download it here.