Details for: MTRR

Gene ID: 4552

Symbol: MTRR

Ensembl ID: ENSG00000124275

Description: 5-methyltetrahydrofolate-homocysteine methyltransferase 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: 119.8044
    Cell Significance Index: -18.6400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 42.8054
    Cell Significance Index: -17.3900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 29.7457
    Cell Significance Index: -19.9600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 18.2562
    Cell Significance Index: -17.4300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.4750
    Cell Significance Index: -19.0800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.0515
    Cell Significance Index: -18.8900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.9879
    Cell Significance Index: -15.3200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.8986
    Cell Significance Index: -19.3300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.0705
    Cell Significance Index: -6.7200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.1905
    Cell Significance Index: 117.7700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9937
    Cell Significance Index: 897.2800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9238
    Cell Significance Index: 185.3200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7763
    Cell Significance Index: 154.0600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7115
    Cell Significance Index: 77.3900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6914
    Cell Significance Index: 41.5100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6875
    Cell Significance Index: 9.3800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6234
    Cell Significance Index: 101.3900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4841
    Cell Significance Index: 56.4200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.3921
    Cell Significance Index: 6.6100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3787
    Cell Significance Index: 135.8500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3643
    Cell Significance Index: 25.1900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3502
    Cell Significance Index: 242.2300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.3322
    Cell Significance Index: 7.1000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3183
    Cell Significance Index: 9.1700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2802
    Cell Significance Index: 6.0700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2458
    Cell Significance Index: 46.7800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2426
    Cell Significance Index: 13.6200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2151
    Cell Significance Index: 13.5600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.2141
    Cell Significance Index: 11.1500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2068
    Cell Significance Index: 7.8300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1879
    Cell Significance Index: 5.2500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1778
    Cell Significance Index: 8.0600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1690
    Cell Significance Index: 30.4700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1631
    Cell Significance Index: 4.3700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1552
    Cell Significance Index: 21.3200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1427
    Cell Significance Index: 6.3100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1383
    Cell Significance Index: 61.1500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1355
    Cell Significance Index: 16.6600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1316
    Cell Significance Index: 10.1000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1310
    Cell Significance Index: 8.0500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1062
    Cell Significance Index: 2.8900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0857
    Cell Significance Index: 10.1100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0781
    Cell Significance Index: 42.6600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0776
    Cell Significance Index: 1.9400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0747
    Cell Significance Index: 5.0300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0549
    Cell Significance Index: 2.8500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0515
    Cell Significance Index: 32.6800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0515
    Cell Significance Index: 38.9500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0314
    Cell Significance Index: 59.0800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0242
    Cell Significance Index: 1.1300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0128
    Cell Significance Index: 5.8300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0102
    Cell Significance Index: 1.3100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0101
    Cell Significance Index: 0.1200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0053
    Cell Significance Index: 8.1900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0043
    Cell Significance Index: 7.8800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0002
    Cell Significance Index: 0.0000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0024
    Cell Significance Index: -3.3200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0060
    Cell Significance Index: -0.1700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0062
    Cell Significance Index: -0.1600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0135
    Cell Significance Index: -0.6300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0140
    Cell Significance Index: -10.2300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0186
    Cell Significance Index: -13.8000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0305
    Cell Significance Index: -5.2000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0314
    Cell Significance Index: -17.7200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0344
    Cell Significance Index: -21.4600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0406
    Cell Significance Index: -2.6200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0420
    Cell Significance Index: -4.2900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0488
    Cell Significance Index: -6.3000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0520
    Cell Significance Index: -0.8700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0540
    Cell Significance Index: -15.5400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0564
    Cell Significance Index: -8.2000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0572
    Cell Significance Index: -0.9800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0592
    Cell Significance Index: -4.1900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0633
    Cell Significance Index: -4.7200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0911
    Cell Significance Index: -2.3400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0976
    Cell Significance Index: -20.5600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1004
    Cell Significance Index: -1.9600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1047
    Cell Significance Index: -3.0000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1088
    Cell Significance Index: -2.6100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1139
    Cell Significance Index: -13.0500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1411
    Cell Significance Index: -4.1500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1693
    Cell Significance Index: -17.6300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1775
    Cell Significance Index: -2.6200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1994
    Cell Significance Index: -10.4700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2155
    Cell Significance Index: -17.0700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2178
    Cell Significance Index: -7.5700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2535
    Cell Significance Index: -3.6300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2554
    Cell Significance Index: -5.4200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2624
    Cell Significance Index: -16.0900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2640
    Cell Significance Index: -5.7800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2898
    Cell Significance Index: -7.6200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3077
    Cell Significance Index: -9.8000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3305
    Cell Significance Index: -4.8800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3308
    Cell Significance Index: -10.8300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3325
    Cell Significance Index: -5.0100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3442
    Cell Significance Index: -6.9100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3668
    Cell Significance Index: -12.8500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3680
    Cell Significance Index: -8.9800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3851
    Cell Significance Index: -5.5300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.3881
    Cell Significance Index: -2.3500

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** The MTRR gene is a mitochondrial enzyme that catalyzes the reduction of methyltetrahydrofolate to 5-methyltetrahydrofolate, which is then used to convert homocysteine to methionine. This enzyme is highly specific and has a high affinity for its substrate, making it an essential component of the methionine synthase pathway. The MTRR gene is also involved in the regulation of homocysteine levels, which is critical for maintaining proper cellular function and preventing the development of various diseases. **Pathways and Functions** The MTRR gene is involved in several key metabolic pathways, including: 1. **Cobalamin (B12) metabolism**: The MTRR gene plays a critical role in the metabolism of cobalamin (B12), a vitamin that is essential for the synthesis of methionine. 2. **Methionine biosynthesis**: The MTRR gene is involved in the synthesis of methionine, an essential amino acid that is critical for the maintenance of proper cellular function. 3. **Homocysteine catabolic process**: The MTRR gene is involved in the conversion of homocysteine to methionine, a process that is critical for maintaining proper cellular function. 4. **DNA methylation**: The MTRR gene is involved in the regulation of DNA methylation, which is critical for maintaining proper gene expression. **Clinical Significance** Mutations in the MTRR gene have been associated with several disorders, including: 1. **Neurological disorders**: Mutations in the MTRR gene have been associated with neurological disorders, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). 2. **Cardiovascular disease**: Mutations in the MTRR gene have been associated with cardiovascular disease, including atherosclerosis and stroke. 3. **Birth defects**: Mutations in the MTRR gene have been associated with birth defects, including neural tube defects and cardiovascular defects. 4. **Cancer**: Mutations in the MTRR gene have been associated with an increased risk of cancer, including colorectal cancer and breast cancer. In conclusion, the MTRR gene plays a critical role in the metabolism of homocysteine and the synthesis of methionine, and mutations in this gene have been associated with various disorders, including neurological, cardiovascular, and cancerous diseases. Further research is needed to fully understand the mechanisms by which the MTRR gene regulates metabolic pathways and to develop effective therapeutic strategies for the treatment of diseases associated with this gene.

Genular Protein ID: 1252552028

Symbol: MTRR_HUMAN

Name: Methionine synthase reductase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10564814

Title: Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene.

PubMed ID: 10564814

DOI: 10.1016/s0378-1119(99)00431-x

PubMed ID: 9501215

Title: Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

PubMed ID: 9501215

DOI: 10.1073/pnas.95.6.3059

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 16769880

Title: Human methionine synthase reductase is a molecular chaperone for human methionine synthase.

PubMed ID: 16769880

DOI: 10.1073/pnas.0603694103

PubMed ID: 18221906

Title: Restricted role for methionine synthase reductase defined by subcellular localization.

PubMed ID: 18221906

DOI: 10.1016/j.ymgme.2007.11.019

PubMed ID: 19243433

Title: Cobalamin uptake and reactivation occurs through specific protein interactions in the methionine synthase-methionine synthase reductase complex.

PubMed ID: 19243433

DOI: 10.1111/j.1742-4658.2009.06919.x

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 27771510

Title: Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.

PubMed ID: 27771510

DOI: 10.1016/j.bbadis.2016.10.016

PubMed ID: 17892308

Title: Mechanism of coenzyme binding to human methionine synthase reductase revealed through the crystal structure of the FNR-like module and isothermal titration calorimetry.

PubMed ID: 17892308

DOI: 10.1021/bi701209p

PubMed ID: 10484769

Title: Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.

PubMed ID: 10484769

DOI: 10.1093/hmg/8.11.2009

PubMed ID: 10444342

Title: A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.

PubMed ID: 10444342

DOI: 10.1006/mgme.1999.2879

PubMed ID: 12375236

Title: Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.

PubMed ID: 12375236

DOI: 10.1086/344209

PubMed ID: 15979034

Title: Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.

PubMed ID: 15979034

DOI: 10.1016/j.ymgme.2005.02.003

Sequence Information:

  • Length: 698
  • Mass: 77674
  • Checksum: D4B394F0B24A07E5
  • Sequence:
  • MRRFLLLYAT QQGQAKAIAE EICEQAVVHG FSADLHCISE SDKYDLKTET APLVVVVSTT 
    GTGDPPDTAR KFVKEIQNQT LPVDFFAHLR YGLLGLGDSE YTYFCNGGKI IDKRLQELGA 
    RHFYDTGHAD DCVGLELVVE PWIAGLWPAL RKHFRSSRGQ EEISGALPVA SPASSRTDLV 
    KSELLHIESQ VELLRFDDSG RKDSEVLKQN AVNSNQSNVV IEDFESSLTR SVPPLSQASL 
    NIPGLPPEYL QVHLQESLGQ EESQVSVTSA DPVFQVPISK AVQLTTNDAI KTTLLVELDI 
    SNTDFSYQPG DAFSVICPNS DSEVQSLLQR LQLEDKREHC VLLKIKADTK KKGATLPQHI 
    PAGCSLQFIF TWCLEIRAIP KKAFLRALVD YTSDSAEKRR LQELCSKQGA ADYSRFVRDA 
    CACLLDLLLA FPSCQPPLSL LLEHLPKLQP RPYSCASSSL FHPGKLHFVF NIVEFLSTAT 
    TEVLRKGVCT GWLALLVASV LQPNIHASHE DSGKALAPKI SISPRTTNSF HLPDDPSIPI 
    IMVGPGTGIA PFIGFLQHRE KLQEQHPDGN FGAMWLFFGC RHKDRDYLFR KELRHFLKHG 
    ILTHLKVSFS RDAPVGEEEA PAKYVQDNIQ LHGQQVARIL LQENGHIYVC GDAKNMAKDV 
    HDALVQIISK EVGVEKLEAM KTLATLKEEK RYLQDIWS

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.