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    MECR mitochondrial trans-2-enoyl-CoA reductase [ Homo sapiens (human) ]

    Gene ID: 51102, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MECRprovided by HGNC
    Official Full Name
    mitochondrial trans-2-enoyl-CoA reductaseprovided by HGNC
    Primary source
    HGNC:HGNC:19691
    See related
    Ensembl:ENSG00000116353 MIM:608205; AllianceGenome:HGNC:19691
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ETR1; NRBF1; OPA16; CGI-63; FASN2B; DYTOABG
    Summary
    The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]
    Expression
    Ubiquitous expression in fat (RPKM 6.2), brain (RPKM 3.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MECR in Genome Data Viewer
    Location:
    1p35.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (29167696..29230934, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (29010353..29073591, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (29519169..29557446, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene erythrocyte membrane protein band 4.1 Neighboring gene Sharpr-MPRA regulatory region 9156 Neighboring gene ribosomal protein L27 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29449829-29450688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29450689-29451548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29451549-29452408 Neighboring gene transmembrane protein 200B Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29482895-29483396 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29490994-29491614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29504446-29504946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29508465-29509102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29509103-29509740 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29513125-29513770 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29513771-29514415 Neighboring gene serine and arginine rich splicing factor 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29524789-29525289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 555 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29535731-29536232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 610 Neighboring gene uncharacterized LOC124903887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29556822-29557322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29557323-29557823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29569846-29570346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29570347-29570847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29571433-29571934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29575791-29576456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29576457-29577122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29577907-29578624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29581288-29581806 Neighboring gene protein tyrosine phosphatase receptor type U Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29609955-29610695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29610696-29611435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29617387-29617889 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29637206-29637706 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29637707-29638207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29638763-29639340 Neighboring gene Sharpr-MPRA regulatory region 13643 Neighboring gene Sharpr-MPRA regulatory region 8387 Neighboring gene long intergenic non-protein coding RNA 1756

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The mitochondrial fatty acid synthesis (mtFASII) pathway is capable of mediating nuclear-mitochondrial cross talk through the PPAR system of transcriptional activation. Parl A, et al. Biochem Biophys Res Commun, 2013 Nov 15. PMID 24161390, Free PMC Article
    2. Alternative splicing liberates a cryptic cytoplasmic isoform of mitochondrial MECR that antagonizes influenza virus. Baker SF, et al. PLoS Biol, 2022 Dec. PMID 36542656, Free PMC Article
    3. Recessive MECR pathogenic variants cause an LHON-like optic neuropathy. Fiorini C, et al. J Med Genet, 2023 Dec 21. PMID 37734847, Free PMC Article
    4. MECR-Related Neurologic Disorder. Adam MP, et al. , 1993. PMID 31070877
    5. Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy. Liu Z, et al. Mitochondrion, 2021 Mar. PMID 33401012

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
      Title: Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
    2. Alternative splicing liberates a cryptic cytoplasmic isoform of mitochondrial MECR that antagonizes influenza virus.
      Title: Alternative splicing liberates a cryptic cytoplasmic isoform of mitochondrial MECR that antagonizes influenza virus.
    3. Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
      Title: Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
    4. MECR is involved in mitochondrial fatty acid synthesis, and overexpression of this gene increases peroxisome proliferator-activated receptor alpha (PPARalpha) activity.
      Title: The Well-Known Gene HHIP and Novel Gene MECR Are Implicated in Small Airway Obstruction.
    5. results suggest that mutations in MECR cause a distinct human disorder of the mitochondrial fatty acid synthesis pathway; the observation of decreased lipoylation raises the possibility of a potential therapeutic strategy
      Title: MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
    6. overexpression of MECR, the last step in the mitochondrial fatty acid synthesis (mtFASII) pathway, causes modulation of gene expression through the PPAR pathway.
      Title: The mitochondrial fatty acid synthesis (mtFASII) pathway is capable of mediating nuclear-mitochondrial cross talk through the PPAR system of transcriptional activation.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    8. The crystal structure of this dimeric enzyme (at 2.4 A resolution) suggests that the binding site for the recognition helix of the acyl carrier protein is in a groove between the two adjacent monomers.
      Title: Structural enzymological studies of 2-enoyl thioester reductase of the human mitochondrial FAS II pathway: new insights into its substrate recognition properties.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
    MedGen: C4310634 OMIM: 617282 GeneReviews: MECR-Related Neurologic Disorder
    		not available
    Optic atrophy 16
    MedGen: C5882723 OMIM: 620629 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enoyl-[acyl-carrier-protein] reductase (NADPH) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of intracellular iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    enoyl-[acyl-carrier-protein] reductase, mitochondrial
    Names
    2-enoyl thioester reductase
    homolog of yeast 2-enoyl thioester reductase
    mitochondrial 2-enoyl thioester reductase
    nuclear receptor binding factor 1
    trans-2-enoyl-CoA reductase, mitochondrial
    NP_001019903.3
    NP_001336640.1
    NP_001336641.1
    NP_001336642.1
    NP_001336643.1
    NP_001336644.1
    NP_001336645.1
    NP_001336646.1
    NP_057095.4
    XP_011539841.1
    XP_011539842.1
    XP_011539843.1
    XP_011539848.1
    XP_047277998.1
    XP_047278007.1
    XP_047278011.1
    XP_054192860.1
    XP_054192861.1
    XP_054192862.1
    XP_054192863.1
    XP_054192864.1
    XP_054192865.1
    XP_054192866.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053058.2 RefSeqGene

      Range
      5000..43277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001024732.4 → NP_001019903.3  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), as well as variants 3-6, encodes isoform b.
      Source sequence(s)
      AK095099, AL590729, HY116509
      Consensus CDS
      CCDS30660.1
      Related
      ENSP00000362896.3, ENST00000373791.7
      Conserved Domains (1) summary
      cd08290
      Location:1 → 297
      ETR; 2-enoyl thioester reductase (ETR)

    2. NM_001349711.2 → NP_001336640.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 2 and 4-6, encodes isoform b.
      Source sequence(s)
      AL590729
      Consensus CDS
      CCDS30660.1
      Conserved Domains (1) summary
      cd08290
      Location:1 → 297
      ETR; 2-enoyl thioester reductase (ETR)

    3. NM_001349712.2 → NP_001336641.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 2, 3, 5, and 6, encodes isoform b.
      Source sequence(s)
      AL590729
      Consensus CDS
      CCDS30660.1
      Conserved Domains (1) summary
      cd08290
      Location:1 → 297
      ETR; 2-enoyl thioester reductase (ETR)

    4. NM_001349713.2 → NP_001336642.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 2-4 and 6, encodes isoform b.
      Source sequence(s)
      AL590729
      Consensus CDS
      CCDS30660.1
      Conserved Domains (1) summary
      cd08290
      Location:1 → 297
      ETR; 2-enoyl thioester reductase (ETR)

    5. NM_001349714.2 → NP_001336643.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 2-5, encodes isoform b.
      Source sequence(s)
      AL590729
      Consensus CDS
      CCDS30660.1
      Conserved Domains (1) summary
      cd08290
      Location:1 → 297
      ETR; 2-enoyl thioester reductase (ETR)

    6. NM_001349715.2 → NP_001336644.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) encodes the longest isoform (c).
      Source sequence(s)
      AL590729
      Conserved Domains (1) summary
      cd08290
      Location:44 → 408
      ETR; 2-enoyl thioester reductase (ETR)

    7. NM_001349716.2 → NP_001336645.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) encodes isoform d.
      Source sequence(s)
      AL590729
      Conserved Domains (1) summary
      cd08290
      Location:44 → 401
      ETR; 2-enoyl thioester reductase (ETR)

    8. NM_001349717.2 → NP_001336646.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) encodes isoform e.
      Source sequence(s)
      AL590729
      Conserved Domains (1) summary
      cd08290
      Location:9 → 323
      ETR; 2-enoyl thioester reductase (ETR)

    9. NM_016011.5 → NP_057095.4  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AK315274, AL590729
      Consensus CDS
      CCDS30659.1
      UniProtKB/Swiss-Prot
      B3KT72, Q5SYU0, Q5SYU1, Q5SYU2, Q6IBU9, Q9BV79, Q9Y373
      Related
      ENSP00000263702.6, ENST00000263702.11
      Conserved Domains (1) summary
      cd08290
      Location:44 → 373
      ETR; 2-enoyl thioester reductase (ETR)

    RNA

    1. NR_146212.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL590729

    2. NR_146213.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL590729

    3. NR_146214.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL590729

    4. NR_146215.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL590729

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      29167696..29230934 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422042.1 → XP_047277998.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X5

    2. XM_011541540.3 → XP_011539842.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X2

      Conserved Domains (2) summary
      cd08290
      Location:44 → 431
      ETR; 2-enoyl thioester reductase (ETR)
      COG0604
      Location:44 → 241
      Qor; NADPH:quinone reductase or related Zn-dependent oxidoreductase [Energy production and conversion, General function prediction only]

    3. XM_011541546.2 → XP_011539848.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X4

      See identical proteins and their annotated locations for XP_011539848.1

      Conserved Domains (2) summary
      cd08290
      Location:1 → 355
      ETR; 2-enoyl thioester reductase (ETR)
      COG0604
      Location:2 → 165
      Qor; NADPH:quinone reductase or related Zn-dependent oxidoreductase [Energy production and conversion, General function prediction only]

    4. XM_011541541.2 → XP_011539843.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X3

      Conserved Domains (2) summary
      cd08290
      Location:44 → 327
      ETR; 2-enoyl thioester reductase (ETR)
      COG0604
      Location:100 → 323
      Qor; NADPH:quinone reductase or related Zn-dependent oxidoreductase [Energy production and conversion, General function prediction only]

    5. XM_011541539.2 → XP_011539841.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X1

      Conserved Domains (2) summary
      cd08290
      Location:44 → 459
      ETR; 2-enoyl thioester reductase (ETR)
      COG0604
      Location:100 → 269
      Qor; NADPH:quinone reductase or related Zn-dependent oxidoreductase [Energy production and conversion, General function prediction only]

    6. XM_047422051.1 → XP_047278007.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X6

    7. XM_047422055.1 → XP_047278011.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X7

      Related
      ENST00000474946.5

    RNA

    1. XR_007060748.1 RNA Sequence

    2. XR_007060747.1 RNA Sequence

    3. XR_946663.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      29010353..29073591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336889.1 → XP_054192864.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X5

    2. XM_054336886.1 → XP_054192861.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X2

    3. XM_054336888.1 → XP_054192863.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X4

    4. XM_054336887.1 → XP_054192862.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X3

    5. XM_054336885.1 → XP_054192860.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X1

    6. XM_054336890.1 → XP_054192865.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X6

    7. XM_054336891.1 → XP_054192866.1  enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform X7

    RNA

    1. XR_008486063.1 RNA Sequence

    2. XR_008486061.1 RNA Sequence

    3. XR_008486062.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BV79.2 GenPept UniProtKB/Swiss-Prot:Q9BV79

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