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Aliases for MECR Gene

Aliases for MECR Gene

  • Mitochondrial Trans-2-Enoyl-CoA Reductase 2 3 5
  • Mitochondrial 2-Enoyl Thioester Reductase 2 3
  • Nuclear Receptor Binding Factor 1 2 3
  • 2-Enoyl Thioester Reductase 3 4
  • Enoyl-[Acyl-Carrier-Protein] Reductase, Mitochondrial 3
  • Homolog Of Yeast 2-Enoyl Thioester Reductase 3
  • Trans-2-Enoyl-CoA Reductase, Mitochondrial 3
  • Nuclear Receptor-Binding Factor 1 4
  • EC 1.3.1.104 4
  • EC 1.3.1.38 61
  • HsNrbf-1 4
  • DYTOABG 3
  • CGI-63 3
  • FASN2B 3
  • NRBF-1 4
  • NRBF1 3
  • NBRF1 4
  • ETR1 3

External Ids for MECR Gene

Previous GeneCards Identifiers for MECR Gene

  • GC01M029341
  • GC01M029391
  • GC01M029519
  • GC01M027771

Summaries for MECR Gene

Entrez Gene Summary for MECR Gene

  • 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]

GeneCards Summary for MECR Gene

MECR (Mitochondrial Trans-2-Enoyl-CoA Reductase) is a Protein Coding gene. Diseases associated with MECR include Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities. Among its related pathways are Fatty acid elongation and Fatty acid metabolism. GO annotations related to this gene include oxidoreductase activity and trans-2-enoyl-CoA reductase (NADPH) activity. An important paralog of this gene is VAT1.

UniProtKB/Swiss-Prot for MECR Gene

  • Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but the enzyme accepts both ACP and CoA thioesters as substrates in vitro. Has a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA (C6), trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16).

Gene Wiki entry for MECR Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MECR Gene

Genomics for MECR Gene

Regulatory Elements for MECR Gene

Enhancers for MECR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G029201 1.3 Ensembl ENCODE 20.7 +28.6 28569 2.4 HNRNPUL1 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 MECR TMEM200B SNHG12 TRNAU1AP GMEB1 SRSF4 ENSG00000237934
GH01G029185 1.1 ENCODE dbSUPER 20 +44.2 44181 2.0 ELF3 FOXA2 ARID4B DMAP1 RAD21 RARA YY1 MIXL1 THAP11 ZNF654 MECR SRSF4 ENSG00000237934
GH01G028925 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8.5 +302.6 302632 6.1 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B FEZF1 YY1 SLC30A9 ENSG00000233427 EPB41 MECR PTPRU GC01M028891 RPL27P4
GH01G029196 0.7 ENCODE 19.2 +33.8 33790 2.3 CTCF NFIB RAD21 ZNF121 ZNF143 SMC3 FOS ZNF687 ZNF654 HLF MECR ENSG00000237934 TMEM200B ENSG00000233427 SRSF4
GH01G029163 0.9 ENCODE dbSUPER 14.8 +65.3 65254 3.6 CTCF TEAD1 CHD7 RAD21 ATF2 TEAD3 ZNF121 JUND POLR2A IKZF1 TMEM200B MECR ENSG00000233427 ENSG00000237934 SRSF4 ENSG00000277916 ENSG00000225750
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MECR on UCSC Golden Path with GeneCards custom track

Promoters for MECR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000003953 158 1201 PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207

Genomic Location for MECR Gene

Chromosome:
1
Start:
29,167,696 bp from pter
End:
29,230,958 bp from pter
Size:
63,263 bases
Orientation:
Minus strand

Genomic View for MECR Gene

Genes around MECR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MECR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MECR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MECR Gene

Proteins for MECR Gene

  • Protein details for MECR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV79-MECR_HUMAN
    Recommended name:
    Enoyl-[acyl-carrier-protein] reductase, mitochondrial
    Protein Accession:
    Q9BV79
    Secondary Accessions:
    • B3KT72
    • Q5SYU0
    • Q5SYU1
    • Q5SYU2
    • Q6IBU9
    • Q9Y373

    Protein attributes for MECR Gene

    Size:
    373 amino acids
    Molecular mass:
    40462 Da
    Quaternary structure:
    • Homodimer (PubMed:12654921, PubMed:18479707). Isoform 2 interacts with PPARA in the nucleus and increases its activity (By similarity).
    SequenceCaution:
    • Sequence=AAD34058.1; Type=Frameshift; Positions=14, 19; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MECR Gene

    Alternative splice isoforms for MECR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MECR Gene

Selected DME Specific Peptides for MECR Gene

Q9BV79:
  • GLGTWRTEAVF
  • SAATLGVNPCTAYRML
  • PAVGGNE
  • PINPSDIN

Post-translational modifications for MECR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for MECR Gene

Protein Domains for MECR Gene

Suggested Antigen Peptide Sequences for MECR Gene

Graphical View of Domain Structure for InterPro Entry

Q9BV79

UniProtKB/Swiss-Prot:

MECR_HUMAN :
  • Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.
Family:
  • Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.
genes like me logo Genes that share domains with MECR: view

No data available for Gene Families for MECR Gene

Function for MECR Gene

Molecular function for MECR Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=37 uM for trans-2-hexenoyl-CoA {ECO:0000269 PubMed:12654921, ECO:0000269 PubMed:18479707}; KM=7.1 uM for trans-2-decenoyl-CoA {ECO:0000269 PubMed:12654921, ECO:0000269 PubMed:18479707}; KM=3.6 uM for trans-dodec-2-enoyl-CoA {ECO:0000269 PubMed:12654921, ECO:0000269 PubMed:18479707}; KM=10.4 uM for trans-dec-2-enoyl-CoA {ECO:0000269 PubMed:12654921, ECO:0000269 PubMed:18479707}; KM=10.2 uM for trans-oct-2-enoyl-CoA {ECO:0000269 PubMed:12654921, ECO:0000269 PubMed:18479707}; KM=4.3 uM for trans-tetradec-2-enoyl-CoA {ECO:0000269 PubMed:12654921, ECO:0000269 PubMed:18479707}; KM=6.6 uM for trans-hexadec-2-enoyl-CoA {ECO:0000269 PubMed:12654921, ECO:0000269 PubMed:18479707}; KM=63.5 uM for trans-hex-2-enoyl-CoA {ECO:0000269 PubMed:12654921, ECO:0000269 PubMed:18479707};
UniProtKB/Swiss-Prot CatalyticActivity:
An acyl-[acyl-carrier protein] + NADP(+) = a trans-2,3-dehydroacyl-[acyl-carrier protein] + NADPH.
UniProtKB/Swiss-Prot Function:
Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but the enzyme accepts both ACP and CoA thioesters as substrates in vitro. Has a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA (C6), trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16).

Enzyme Numbers (IUBMB) for MECR Gene

Gene Ontology (GO) - Molecular Function for MECR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0019166 trans-2-enoyl-CoA reductase (NADPH) activity IEA,TAS --
genes like me logo Genes that share ontologies with MECR: view
genes like me logo Genes that share phenotypes with MECR: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MECR

CRISPR Products

miRNA for MECR Gene

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MECR Gene

Localization for MECR Gene

Subcellular locations from UniProtKB/Swiss-Prot for MECR Gene

Isoform 1: Mitochondrion.
Isoform 2: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MECR gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for MECR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,IEA 12654921
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MECR: view

Pathways & Interactions for MECR Gene

genes like me logo Genes that share pathways with MECR: view

Pathways by source for MECR Gene

1 BioSystems pathway for MECR Gene

Gene Ontology (GO) - Biological Process for MECR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA,IMP 27817865
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with MECR: view

No data available for SIGNOR curated interactions for MECR Gene

Drugs & Compounds for MECR Gene

(4) Drugs for MECR Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved Pharma 0
myristoyl-coa Experimental Pharma 0
Propionyl-CoA Experimental Pharma 0

(40) Additional Compounds for MECR Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with MECR: view

Transcripts for MECR Gene

Unigene Clusters for MECR Gene

Mitochondrial trans-2-enoyl-CoA reductase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MECR Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - - - - - -
SP6: - - - - - - -
SP7:
SP8: - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - -
SP11: - - - - -
SP12: - - - -
SP13: - - - - - - - - - -
SP14: - - -
SP15: - - - -
SP16:

ExUns: 14 ^ 15a · 15b ^ 16a · 16b · 16c
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for MECR Gene

GeneLoc Exon Structure for
MECR
ECgene alternative splicing isoforms for
MECR

Expression for MECR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MECR Gene

Protein differential expression in normal tissues from HIPED for MECR Gene

This gene is overexpressed in Nasopharynx (8.2), Skin (6.4), and Heart (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MECR Gene



Protein tissue co-expression partners for MECR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MECR Gene:

MECR

SOURCE GeneReport for Unigene cluster for MECR Gene:

Hs.183646

mRNA Expression by UniProt/SwissProt for MECR Gene:

Q9BV79-MECR_HUMAN
Tissue specificity: Highly expressed in skeletal and heart muscle. Expressed at lower level in placenta, liver, kidney and pancreas. Weakly or not expressed in lung.

Evidence on tissue expression from TISSUES for MECR Gene

  • Nervous system(4.6)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with MECR: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MECR Gene

Orthologs for MECR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MECR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MECR 34 35
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia MECR 34 35
  • 88.89 (n)
cow
(Bos Taurus)
Mammalia MECR 34 35
  • 87.22 (n)
rat
(Rattus norvegicus)
Mammalia Mecr 34
  • 83.02 (n)
mouse
(Mus musculus)
Mammalia Mecr 34 16 35
  • 82.66 (n)
oppossum
(Monodelphis domestica)
Mammalia MECR 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 62 (a)
OneToMany
-- 35
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves MECR 34 35
  • 67.34 (n)
lizard
(Anolis carolinensis)
Reptilia MECR 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mecr 34
  • 63.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11527 34
zebrafish
(Danio rerio)
Actinopterygii mecr 34 35
  • 64.84 (n)
Dr.17583 34
fruit fly
(Drosophila melanogaster)
Insecta CG16935 34 35
  • 55.93 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011834 34
  • 55.59 (n)
worm
(Caenorhabditis elegans)
Secernentea mecr-1 34 35
  • 50.66 (n)
Y48A6B.9 35
  • 40 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL081W 34
  • 49.04 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F24552g 34
  • 47.51 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ETR1 34 35 37
  • 44.33 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G45770 34
  • 53.09 (n)
rice
(Oryza sativa)
Liliopsida Os11g0102500 34
  • 53.57 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00655 34
  • 52.02 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes etr1 34
  • 50.31 (n)
Species where no ortholog for MECR was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MECR Gene

ENSEMBL:
Gene Tree for MECR (if available)
TreeFam:
Gene Tree for MECR (if available)

Paralogs for MECR Gene

Paralogs for MECR Gene

genes like me logo Genes that share paralogs with MECR: view

Variants for MECR Gene

Sequence variations from dbSNP and Humsavar for MECR Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_077997 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282]
VAR_077998 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282]
VAR_078000 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282]
rs1057519286 Pathogenic 29,196,234(-) ACCTA(G/T)GGGGG nc-transcript-variant, reference, missense, stop-gained
rs1057519287 Pathogenic 29,216,612(-) CTATC(-/AATC)CATCT nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for MECR Gene

Variant ID Type Subtype PubMed ID
nsv1113097 CNV deletion 24896259

Variation tolerance for MECR Gene

Residual Variation Intolerance Score: 56.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.07; 37.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MECR Gene

Human Gene Mutation Database (HGMD)
MECR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MECR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MECR Gene

Disorders for MECR Gene

MalaCards: The human disease database

(1) MalaCards diseases for MECR Gene - From: ClinVar, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MECR in MalaCards View complete list of genes associated with diseases

Relevant External Links for MECR

Genetic Association Database (GAD)
MECR
Human Genome Epidemiology (HuGE) Navigator
MECR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MECR
genes like me logo Genes that share disorders with MECR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MECR Gene

Publications for MECR Gene

  1. Characterization of 2-enoyl thioester reductase from mammals: an ortholog of Ybr026p/Mrf1'p of the yeast mitochondrial fatty acid synthesis type II. (PMID: 12654921) Miinalainen I.J. … Hiltunen J.K. (J. Biol. Chem. 2003) 2 3 4 22 64
  2. Structural enzymological studies of 2-enoyl thioester reductase of the human mitochondrial FAS II pathway: new insights into its substrate recognition properties. (PMID: 18479707) Chen Z.J. … Haapalainen A.M. (J. Mol. Biol. 2008) 3 4 22 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for MECR Gene

Sources for MECR Gene

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