Details for: MECR

Gene ID: 51102

Symbol: MECR

Ensembl ID: ENSG00000116353

Description: mitochondrial trans-2-enoyl-CoA reductase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 117.6507
    Cell Significance Index: -18.3000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 70.2561
    Cell Significance Index: -17.8200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 53.4534
    Cell Significance Index: -22.0200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 44.8612
    Cell Significance Index: -21.1800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 43.3962
    Cell Significance Index: -17.6300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 31.5191
    Cell Significance Index: -21.1500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 18.4971
    Cell Significance Index: -17.6600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 16.4077
    Cell Significance Index: -20.2300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.2195
    Cell Significance Index: -19.3400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.2166
    Cell Significance Index: -20.5900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.7604
    Cell Significance Index: -8.2300
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 2.6124
    Cell Significance Index: 3.3800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.5442
    Cell Significance Index: 160.3500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.2238
    Cell Significance Index: 121.0700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.1140
    Cell Significance Index: 13.2800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9095
    Cell Significance Index: 821.2000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8025
    Cell Significance Index: 160.9900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7733
    Cell Significance Index: 10.5500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7073
    Cell Significance Index: 115.0400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5855
    Cell Significance Index: 404.9500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5488
    Cell Significance Index: 28.5100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4833
    Cell Significance Index: 95.9100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4445
    Cell Significance Index: 242.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3674
    Cell Significance Index: 131.7900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3433
    Cell Significance Index: 26.3500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3329
    Cell Significance Index: 15.5200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3048
    Cell Significance Index: 54.9500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2749
    Cell Significance Index: 7.3400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2691
    Cell Significance Index: 11.9100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2675
    Cell Significance Index: 32.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2550
    Cell Significance Index: 11.5600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2548
    Cell Significance Index: 9.6500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2430
    Cell Significance Index: 7.0000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2387
    Cell Significance Index: 16.5100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2258
    Cell Significance Index: 6.0500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2248
    Cell Significance Index: 4.8700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2158
    Cell Significance Index: 95.4100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2103
    Cell Significance Index: 14.8700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1954
    Cell Significance Index: 5.4600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1928
    Cell Significance Index: 26.4700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1607
    Cell Significance Index: 1.4800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1440
    Cell Significance Index: 3.9200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1414
    Cell Significance Index: 26.9200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1280
    Cell Significance Index: 7.1800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1165
    Cell Significance Index: 15.0500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1083
    Cell Significance Index: 15.7400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0690
    Cell Significance Index: 93.8600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0556
    Cell Significance Index: 7.1300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0496
    Cell Significance Index: 1.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0438
    Cell Significance Index: 2.0600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0427
    Cell Significance Index: 0.9100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0264
    Cell Significance Index: 0.7000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0239
    Cell Significance Index: 0.5100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0209
    Cell Significance Index: 32.1400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0196
    Cell Significance Index: 2.3100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0175
    Cell Significance Index: 32.8700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0162
    Cell Significance Index: 0.3600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0161
    Cell Significance Index: 1.2000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0142
    Cell Significance Index: 26.2500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0104
    Cell Significance Index: 0.3600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0061
    Cell Significance Index: 1.0500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0057
    Cell Significance Index: 0.1200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0024
    Cell Significance Index: -1.5400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0048
    Cell Significance Index: -0.1000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0066
    Cell Significance Index: -2.9800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0082
    Cell Significance Index: -5.9900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0135
    Cell Significance Index: -10.2300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0205
    Cell Significance Index: -0.7200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0223
    Cell Significance Index: -1.3700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0231
    Cell Significance Index: -1.5500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0255
    Cell Significance Index: -18.8900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0344
    Cell Significance Index: -19.4300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0373
    Cell Significance Index: -23.3200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0379
    Cell Significance Index: -2.4500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0390
    Cell Significance Index: -3.9800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0431
    Cell Significance Index: -2.2700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0577
    Cell Significance Index: -16.6000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0735
    Cell Significance Index: -1.8900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0744
    Cell Significance Index: -8.6700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0807
    Cell Significance Index: -1.3500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0869
    Cell Significance Index: -1.4900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1049
    Cell Significance Index: -22.0900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1084
    Cell Significance Index: -1.6000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1100
    Cell Significance Index: -3.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1101
    Cell Significance Index: -12.6100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1315
    Cell Significance Index: -3.3600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1334
    Cell Significance Index: -1.4500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1337
    Cell Significance Index: -2.6100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1816
    Cell Significance Index: -18.9100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2045
    Cell Significance Index: -16.2000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2352
    Cell Significance Index: -12.2500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2519
    Cell Significance Index: -5.8200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2659
    Cell Significance Index: -16.3100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3029
    Cell Significance Index: -8.9000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3038
    Cell Significance Index: -9.6800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3105
    Cell Significance Index: -6.5900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3454
    Cell Significance Index: -11.3100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3945
    Cell Significance Index: -13.8200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4028
    Cell Significance Index: -9.6600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4274
    Cell Significance Index: -12.5900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** MECR is a mitochondrial enzyme that catalyzes the reduction of trans-2-enoyl-CoA to enoyl-CoA, an essential step in the beta-oxidation of fatty acids. This enzyme is highly conserved across species and has been implicated in various cellular processes, including lipid metabolism, energy production, and cell signaling. MECR is also known to interact with nuclear receptors, such as NRF1, which regulates the expression of genes involved in fatty acid metabolism. **Pathways and Functions** MECR is involved in several key pathways, including: 1. **Beta oxidation of decanoyl-CoA to octanoyl-CoA**: MECR catalyzes the reduction of trans-2-enoyl-CoA to enoyl-CoA, which is then further reduced to octanoyl-CoA by other enzymes. 2. **Ceramide biosynthesis**: MECR is involved in the synthesis of ceramides, which are important lipid molecules involved in cell signaling and membrane structure. 3. **Fatty acid biosynthesis**: MECR regulates the expression of genes involved in fatty acid synthesis, including those encoding enzymes involved in the elongation and desaturation of fatty acids. 4. **Intracellular iron ion homeostasis**: MECR has been implicated in the regulation of iron homeostasis within the mitochondria, which is essential for maintaining mitochondrial function and preventing iron toxicity. **Clinical Significance** MECR has been implicated in various diseases, including: 1. **Malignant hyperthermia**: A life-threatening condition characterized by excessive muscle activity and heat production, which is caused by mutations in the RYR1 gene that affect MECR function. 2. **Fatty acid metabolism disorders**: Mutations in the MECR gene have been associated with disorders of fatty acid metabolism, including congenital hypertriglyceridemia and isolated very long-chain acyl-CoA dehydrogenase deficiency. 3. **Mitochondrial disorders**: MECR has been implicated in the pathogenesis of mitochondrial disorders, including Kearns-Sayre syndrome and MERRF syndrome, which are characterized by progressive muscle weakness and exercise intolerance. In conclusion, MECR is a critical enzyme involved in the regulation of fatty acid metabolism within the mitochondria. Its dysregulation has been implicated in various diseases, highlighting the importance of understanding the role of MECR in maintaining cellular homeostasis and preventing disease.

Genular Protein ID: 3799555031

Symbol: MECR_HUMAN

Name: Nuclear receptor-binding factor 1

UniProtKB Accession Codes:

Q9BV79 B3KT72 Q5SYU0 Q5SYU1 Q5SYU2 Q6IBU9 Q9Y373

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 46 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 6 Rhea 32 SABIO-RK 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12654921

Title: Characterization of 2-enoyl thioester reductase from mammals: an ortholog of Ybr026p/Mrf1'p of the yeast mitochondrial fatty acid synthesis type II.

PubMed ID: 12654921

DOI: 10.1074/jbc.m302851200

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25031892

Title: A novel cytosolic isoform of mitochondrial Trans-2-Enoyl-CoA reductase enhances peroxisome proliferator-activated receptor alpha activity.

PubMed ID: 25031892

DOI: 10.3803/enm.2014.29.2.185

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 37653044

Title: A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.

PubMed ID: 37653044

DOI: 10.1038/s42255-023-00873-0

PubMed ID: 18479707

Title: Structural enzymological studies of 2-enoyl thioester reductase of the human mitochondrial FAS II pathway: new insights into its substrate recognition properties.

PubMed ID: 18479707

DOI: 10.1016/j.jmb.2008.04.041

PubMed ID: 27817865

Title: MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder.

PubMed ID: 27817865

DOI: 10.1016/j.ajhg.2016.09.021

PubMed ID: 37734847

Title: Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.

PubMed ID: 37734847

DOI: 10.1136/jmg-2023-109340

Sequence Information:

  • Length: 373
  • Mass: 40462
  • Checksum: DB13F6B0ED54A823
  • Sequence:
    • MWVCSTLWRV RTPARQWRGL LPASGCHGPA ASSYSASAEP ARVRALVYGH HGDPAKVVEL 
KNLELAAVRG SDVRVKMLAA PINPSDINMI QGNYGFLPEL PAVGGNEGVA QVVAVGSNVT 
GLKPGDWVIP ANAGLGTWRT EAVFSEEALI QVPSDIPLQS AATLGVNPCT AYRMLMDFEQ 
LQPGDSVIQN ASNSGVGQAV IQIAAALGLR TINVVRDRPD IQKLSDRLKS LGAEHVITEE 
ELRRPEMKNF FKDMPQPRLA LNCVGGKSST ELLRQLARGG TMVTYGGMAK QPVVASVSLL 
IFKDLKLRGF WLSQWKKDHS PDQFKELILT LCDLIRRGQL TAPACSQVPL QDYQSALEAS 
MKPFISSKQI LTM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.