ECH1

ECH1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2VRE
Identifiers
Aliases	ECH1 , HPXEL, enoyl-CoA hydratase 1, peroxisomal, enoyl-CoA hydratase 1
External IDs	OMIM: 600696; MGI: 1858208; HomoloGene: 1069; GeneCards: ECH1; OMA:ECH1 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.2 Start 38,815,422 bp [1] End 38,831,841 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 B1 Start 28,524,642 bp [2] End 28,531,672 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart left ventricle gastrocnemius muscle right adrenal gland left adrenal gland left adrenal cortex right adrenal cortex right auricle right lobe of liver mucosa of transverse colon Top expressed in right ventricle myocardium of ventricle cardiac muscles brown adipose tissue interventricular septum cardiac muscle tissue of left ventricle right kidney intercostal muscle extraocular muscle white adipose tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signaling receptor binding protein binding isomerase activity catalytic activity delta3,5-delta2,4-dienoyl-CoA isomerase activity Cellular component peroxisome extracellular exosome membrane mitochondrion peroxisomal matrix cytosol Biological process fatty acid beta-oxidation metabolism fatty acid metabolic process lipid metabolism protein targeting to peroxisome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1891 51798 Ensembl ENSG00000104823 ENSG00000282853 ENSMUSG00000053898 UniProt Q13011 O35459 RefSeq (mRNA) NM_001398 NM_016772 RefSeq (protein) NP_001389 NP_058052 Location (UCSC) Chr 19: 38.82 – 38.83 Mb Chr 7: 28.52 – 28.53 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial is an enzyme that in humans is encoded by the ECH1 gene. ^{[5] [6]}

This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-CoA hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, Δ3,5-Δ2,4-dienoyl-CoA isomerase, contains a C-terminal peroxisomal targeting sequence and localizes to peroxisomes. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. ^[6]

References

1. ENSG00000282853 GRCh38: Ensembl release 89: ENSG00000104823, ENSG00000282853 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000053898 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. FitzPatrick DR, Germain-Lee E, Valle D (Nov 1995). "Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase". Genomics. 27 (3): 457–66. doi: 10.1006/geno.1995.1077 . PMID   7558027.
6. "Entrez Gene: ECH1 enoyl Coenzyme A hydratase 1, peroxisomal".

Further reading

• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.
• Kovalyov LI, Kovalyova MA, Kovalyov PL, et al. (2006). "Polymorphism of delta3,5-delta2,4-dienoyl-coenzyme A isomerase (the ECH1 gene product protein) in human striated muscle tissue". Biochemistry Mosc. 71 (4): 448–53. doi:10.1134/S0006297906040146. PMID   16615866. S2CID   11794020.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Goehler H, Lalowski M, Stelzl U, et al. (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–65. doi: 10.1016/j.molcel.2004.09.016 . PMID   15383276.
• Jia Y, Qi C, Zhang Z, et al. (2004). "Overexpression of peroxisome proliferator-activated receptor-alpha (PPARalpha)-regulated genes in liver in the absence of peroxisome proliferation in mice deficient in both L- and D-forms of enoyl-CoA hydratase/dehydrogenase enzymes of peroxisomal beta-oxidation system". J. Biol. Chem. 278 (47): 47232–9. doi: 10.1074/jbc.M306363200 . PMID   14500732.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Filppula SA, Yagi AI, Kilpeläinen SH, et al. (1998). "Delta3,5-delta2,4-dienoyl-CoA isomerase from rat liver. Molecular characterization". J. Biol. Chem. 273 (1): 349–55. doi: 10.1074/jbc.273.1.349 . PMID   9417087.

External links

• Overview of all the structural information available in the PDB for UniProt : Q13011 (Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial) at the PDBe-KB .