Entry - *600305 - ENOYL-CoA DELTA ISOMERASE 1; ECI1 - OMIM
 
* 600305

ENOYL-CoA DELTA ISOMERASE 1; ECI1


Alternative titles; symbols

DODECENOYL-CoA DELTA ISOMERASE; DCI
3,2-TRANS-ENOYL-CoA ISOMERASE
DELTA-3-DELTA-2-ENOYL-CoA ISOMERASE


HGNC Approved Gene Symbol: ECI1

Cytogenetic location: 16p13.3     Genomic coordinates (GRCh38): 16:2,239,402-2,251,587 (from NCBI)


TEXT

Description

The reentry of the 3-cis- and 3-trans-enoyl-CoA esters into the beta-oxidation spiral is accomplished by mitochondrial 3,2-trans-enoyl-CoA isomerase (EC 5.3.3.8). This isomerase is encoded by the ECI1 gene. This enzyme catalyzes the shift of the double bonds of 3-cis- and 3-trans-isomers to the 2-trans-enoyl-CoAs, which are substrates of the 2-trans-enoyl-CoA hydratase (EC 4.2.1.17) (summary by Janssen et al., 1994).


Cloning and Expression

Using the previously cloned human DCI cDNA, Janssen et al. (1994) isolated and characterized a genomic clone for DCI. The gene encompassed approximately 12.5 kb and the coding sequence was distributed over 7 exons.


Gene Function

Using a complementation strategy, Gurvitz et al. (1999) found that rat Eci1 restored growth in yeast lacking delta-3-delta-2-enoyl-CoA reductase activity.


Gene Structure

Janssen et al. (1994) determined that the DCI gene encompasses approximately 12.5 kb and that the coding sequence is distributed over 7 exons. One major and 3 minor transcription start sites were determined by primer extension analysis. In common with promoters of other housekeeping genes encoding mitochondrial proteins, the GC-rich 5-prime flanking region of the DCI transcription initiation site lacked typical TATA and CAAT boxes.


Mapping

Janssen et al. (1994) assigned the DCI gene to chromosome 16 by PCR analysis of DNAs from human/rodent somatic cell hybrids and to 16p13.3 by fluorescence in situ hybridization.


REFERENCES

  1. Gurvitz, A., Wabnegger, L., Yagi, A. I., Binder, M., Hartig, A., Ruis, H., Hamilton, B., Dawes, I. W., Hiltunen, J. K., Rottensteiner, H. Function of human mitochondrial 2,4-dienoyl-CoA reductase and rat monofunctional delta3-delta2-enoyl-CoA isomerase in beta-oxidation of unsaturated fatty acids. Biochem. J. 344: 903-914, 1999. [PubMed: 10585880, related citations]

  2. Janssen, U., Fink, T., Lichter, P., Stoffel, W. Human mitochondrial 3,2-trans-enoyl-CoA isomerase (DCI): gene structure and localization to chromosome 16p13.3. Genomics 23: 223-228, 1994. [PubMed: 7829074, related citations] [Full Text]


Contributors:
Patricia A. Hartz - updated : 06/06/2014
Creation Date:
Victor A. McKusick : 1/11/1995
mgross : 06/06/2014
alopez : 4/8/2014
terry : 4/25/2000
jamie : 1/29/1997
carol : 1/18/1995
carol : 1/11/1995

* 600305

ENOYL-CoA DELTA ISOMERASE 1; ECI1


Alternative titles; symbols

DODECENOYL-CoA DELTA ISOMERASE; DCI
3,2-TRANS-ENOYL-CoA ISOMERASE
DELTA-3-DELTA-2-ENOYL-CoA ISOMERASE


HGNC Approved Gene Symbol: ECI1

Cytogenetic location: 16p13.3     Genomic coordinates (GRCh38): 16:2,239,402-2,251,587 (from NCBI)


TEXT

Description

The reentry of the 3-cis- and 3-trans-enoyl-CoA esters into the beta-oxidation spiral is accomplished by mitochondrial 3,2-trans-enoyl-CoA isomerase (EC 5.3.3.8). This isomerase is encoded by the ECI1 gene. This enzyme catalyzes the shift of the double bonds of 3-cis- and 3-trans-isomers to the 2-trans-enoyl-CoAs, which are substrates of the 2-trans-enoyl-CoA hydratase (EC 4.2.1.17) (summary by Janssen et al., 1994).


Cloning and Expression

Using the previously cloned human DCI cDNA, Janssen et al. (1994) isolated and characterized a genomic clone for DCI. The gene encompassed approximately 12.5 kb and the coding sequence was distributed over 7 exons.


Gene Function

Using a complementation strategy, Gurvitz et al. (1999) found that rat Eci1 restored growth in yeast lacking delta-3-delta-2-enoyl-CoA reductase activity.


Gene Structure

Janssen et al. (1994) determined that the DCI gene encompasses approximately 12.5 kb and that the coding sequence is distributed over 7 exons. One major and 3 minor transcription start sites were determined by primer extension analysis. In common with promoters of other housekeeping genes encoding mitochondrial proteins, the GC-rich 5-prime flanking region of the DCI transcription initiation site lacked typical TATA and CAAT boxes.


Mapping

Janssen et al. (1994) assigned the DCI gene to chromosome 16 by PCR analysis of DNAs from human/rodent somatic cell hybrids and to 16p13.3 by fluorescence in situ hybridization.


REFERENCES

  1. Gurvitz, A., Wabnegger, L., Yagi, A. I., Binder, M., Hartig, A., Ruis, H., Hamilton, B., Dawes, I. W., Hiltunen, J. K., Rottensteiner, H. Function of human mitochondrial 2,4-dienoyl-CoA reductase and rat monofunctional delta3-delta2-enoyl-CoA isomerase in beta-oxidation of unsaturated fatty acids. Biochem. J. 344: 903-914, 1999. [PubMed: 10585880]

  2. Janssen, U., Fink, T., Lichter, P., Stoffel, W. Human mitochondrial 3,2-trans-enoyl-CoA isomerase (DCI): gene structure and localization to chromosome 16p13.3. Genomics 23: 223-228, 1994. [PubMed: 7829074] [Full Text: https://doi.org/10.1006/geno.1994.1480]


Contributors:
Patricia A. Hartz - updated : 06/06/2014

Creation Date:
Victor A. McKusick : 1/11/1995

Edit History:
mgross : 06/06/2014
alopez : 4/8/2014
terry : 4/25/2000
jamie : 1/29/1997
carol : 1/18/1995
carol : 1/11/1995