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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
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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

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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