Details for: MTHFD1
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: 98.5565
Cell Significance Index: -15.3300 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 65.0520
Cell Significance Index: -16.5000 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 44.3685
Cell Significance Index: -18.0300 - Cell Name: ileal goblet cell (CL1000326)
Fold Change: 30.9975
Cell Significance Index: -20.8000 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 19.2251
Cell Significance Index: -18.3600 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 6.9918
Cell Significance Index: -18.7300 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 5.4358
Cell Significance Index: -21.4500 - Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: 2.2389
Cell Significance Index: 37.7200 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 1.4413
Cell Significance Index: 86.5300 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 1.1075
Cell Significance Index: 41.9400 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.0753
Cell Significance Index: 215.7000 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 1.0632
Cell Significance Index: 47.0300 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.9674
Cell Significance Index: 157.3400 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.9477
Cell Significance Index: 12.9300 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.8164
Cell Significance Index: 162.0200 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.6980
Cell Significance Index: 18.6700 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.6821
Cell Significance Index: 615.8700 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.6423
Cell Significance Index: 17.9500 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.4719
Cell Significance Index: 169.2500 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.4631
Cell Significance Index: 32.0300 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 0.4424
Cell Significance Index: 4.8100 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.4304
Cell Significance Index: 14.9600 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.4128
Cell Significance Index: 31.6800 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: 0.3645
Cell Significance Index: 5.3800 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 0.3617
Cell Significance Index: 24.3200 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.3469
Cell Significance Index: 18.0200 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.3408
Cell Significance Index: 9.8200 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.2891
Cell Significance Index: 39.7000 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.2406
Cell Significance Index: 29.5800 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.2308
Cell Significance Index: 41.6100 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.2297
Cell Significance Index: 4.9100 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.2265
Cell Significance Index: 29.0300 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: 0.2258
Cell Significance Index: 6.4500 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.2232
Cell Significance Index: 4.6300 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.2193
Cell Significance Index: 25.8700 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.2162
Cell Significance Index: 118.0900 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.2031
Cell Significance Index: 13.1100 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.1988
Cell Significance Index: 19.6700 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 0.1664
Cell Significance Index: 9.3400 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 0.1456
Cell Significance Index: 8.9500 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.1436
Cell Significance Index: 63.5000 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.1338
Cell Significance Index: 2.8500 - Cell Name: lactocyte (CL0002325)
Fold Change: 0.1222
Cell Significance Index: 15.7900 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.1207
Cell Significance Index: 2.6200 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.1070
Cell Significance Index: 4.8500 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0721
Cell Significance Index: 135.6900 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.0680
Cell Significance Index: 1.8500 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.0642
Cell Significance Index: 1.7200 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.0620
Cell Significance Index: 2.8900 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.0611
Cell Significance Index: 11.6300 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.0502
Cell Significance Index: 68.2400 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0493
Cell Significance Index: 75.8700 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.0436
Cell Significance Index: 0.7300 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.0397
Cell Significance Index: 1.2700 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.0382
Cell Significance Index: 24.2800 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0358
Cell Significance Index: 66.0200 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.0272
Cell Significance Index: 1.4200 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0240
Cell Significance Index: 4.1000 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: 0.0210
Cell Significance Index: 0.6200 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 0.0134
Cell Significance Index: 0.4000 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0128
Cell Significance Index: 0.4500 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.0106
Cell Significance Index: 0.5000 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: 0.0086
Cell Significance Index: 6.3100 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.0054
Cell Significance Index: 0.4000 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0024
Cell Significance Index: -1.1000 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.0053
Cell Significance Index: -0.0900 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.0059
Cell Significance Index: -0.4200 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0121
Cell Significance Index: -9.1500 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0137
Cell Significance Index: -1.9900 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0195
Cell Significance Index: -0.5200 - Cell Name: pro-T cell (CL0000827)
Fold Change: -0.0256
Cell Significance Index: -0.6600 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0277
Cell Significance Index: -20.5500 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0290
Cell Significance Index: -2.9600 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0365
Cell Significance Index: -20.5700 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0370
Cell Significance Index: -23.0800 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0598
Cell Significance Index: -17.2100 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0738
Cell Significance Index: -8.6000 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.0836
Cell Significance Index: -1.7500 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.0844
Cell Significance Index: -2.2200 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.1105
Cell Significance Index: -23.2700 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.1114
Cell Significance Index: -7.0200 - Cell Name: cardiac muscle cell (CL0000746)
Fold Change: -0.1209
Cell Significance Index: -1.7900 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1230
Cell Significance Index: -14.0900 - Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: -0.1530
Cell Significance Index: -1.3000 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1595
Cell Significance Index: -16.6100 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.1727
Cell Significance Index: -13.6800 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.1800
Cell Significance Index: -9.4500 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.1922
Cell Significance Index: -4.6100 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.1956
Cell Significance Index: -11.9900 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.2210
Cell Significance Index: -5.6800 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.2256
Cell Significance Index: -5.6400 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: -0.2370
Cell Significance Index: -2.9400 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: -0.2497
Cell Significance Index: -2.5900 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.2674
Cell Significance Index: -5.8600 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.3248
Cell Significance Index: -6.3400 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.3516
Cell Significance Index: -5.0400 - Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: -0.3600
Cell Significance Index: -4.6100 - Cell Name: type I muscle cell (CL0002211)
Fold Change: -0.3746
Cell Significance Index: -9.1400 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.3857
Cell Significance Index: -12.2900 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.3907
Cell Significance Index: -12.7900
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.
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.
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
Genular Protein ID: 3552543250
Symbol: C1TC_HUMAN
Name: C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processed
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 3053686
Title: Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase.
PubMed ID: 3053686
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 12508121
Title: The DNA sequence and analysis of human chromosome 14.
PubMed ID: 12508121
DOI: 10.1038/nature01348
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: 12665801
Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
PubMed ID: 12665801
DOI: 10.1038/nbt810
PubMed ID: 1881876
Title: Expression of active domains of a human folate-dependent trifunctional enzyme in Escherichia coli.
PubMed ID: 1881876
PubMed ID: 14654843
Title: Proteomic characterization of the human centrosome by protein correlation profiling.
PubMed ID: 14654843
DOI: 10.1038/nature02166
PubMed ID: 19413330
Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
PubMed ID: 19413330
DOI: 10.1021/ac9004309
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 22223895
Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.
PubMed ID: 22223895
PubMed ID: 22814378
Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
PubMed ID: 22814378
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 9519408
Title: The 3-D structure of a folate-dependent dehydrogenase/cyclohydrolase bifunctional enzyme at 1.5-A resolution.
PubMed ID: 9519408
PubMed ID: 10828945
Title: Structures of three inhibitor complexes provide insight into the reaction mechanism of the human methylenetetrahydrofolate dehydrogenase/cyclohydrolase.
PubMed ID: 10828945
DOI: 10.1021/bi992734y
PubMed ID: 9611072
Title: Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.
PubMed ID: 9611072
PubMed ID: 12384833
Title: A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.
PubMed ID: 12384833
DOI: 10.1086/344213
PubMed ID: 16552426
Title: Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.
PubMed ID: 16552426
PubMed ID: 17000706
Title: Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.
PubMed ID: 17000706
DOI: 10.1093/hmg/ddl401
PubMed ID: 18767138
Title: The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
PubMed ID: 18767138
DOI: 10.1002/humu.20830
PubMed ID: 21813566
Title: Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
PubMed ID: 21813566
PubMed ID: 25633902
Title: Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
PubMed ID: 25633902
PubMed ID: 27707659
Title: Precision molecular diagnosis defines specific therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 deficiency.
PubMed ID: 27707659
Sequence Information:
- Length: 935
- Mass: 101531
- Checksum: B834DB504BC1869A
- Sequence:
MAPAEILNGK EISAQIRARL KNQVTQLKEQ VPGFTPRLAI LQVGNRDDSN LYINVKLKAA EEIGIKATHI KLPRTTTESE VMKYITSLNE DSTVHGFLVQ LPLDSENSIN TEEVINAIAP EKDVDGLTSI NAGKLARGDL NDCFIPCTPK GCLELIKETG VPIAGRHAVV VGRSKIVGAP MHDLLLWNNA TVTTCHSKTA HLDEEVNKGD ILVVATGQPE MVKGEWIKPG AIVIDCGINY VPDDKKPNGR KVVGDVAYDE AKERASFITP VPGGVGPMTV AMLMQSTVES AKRFLEKFKP GKWMIQYNNL NLKTPVPSDI DISRSCKPKP IGKLAREIGL LSEEVELYGE TKAKVLLSAL ERLKHRPDGK YVVVTGITPT PLGEGKSTTT IGLVQALGAH LYQNVFACVR QPSQGPTFGI KGGAAGGGYS QVIPMEEFNL HLTGDIHAIT AANNLVAAAI DARIFHELTQ TDKALFNRLV PSVNGVRRFS DIQIRRLKRL GIEKTDPTTL TDEEINRFAR LDIDPETITW QRVLDTNDRF LRKITIGQAP TEKGHTRTAQ FDISVASEIM AVLALTTSLE DMRERLGKMV VASSKKGEPV SAEDLGVSGA LTVLMKDAIK PNLMQTLEGT PVFVHAGPFA NIAHGNSSII ADRIALKLVG PEGFVVTEAG FGADIGMEKF FNIKCRYSGL CPHVVVLVAT VRALKMHGGG PTVTAGLPLP KAYIQENLEL VEKGFSNLKK QIENARMFGI PVVVAVNAFK TDTESELDLI SRLSREHGAF DAVKCTHWAE GGKGALALAQ AVQRAAQAPS SFQLLYDLKL PVEDKIRIIA QKIYGADDIE LLPEAQHKAE VYTKQGFGNL PICMAKTHLS LSHNPEQKGV PTGFILPIRD IRASVGAGFL YPLVGTMSTM PGLPTRPCFY DIDLDPETEQ VNGLF
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.