Mthfd1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1) - Rat Genome Database

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Gene: Mthfd1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1) Rattus norvegicus
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Symbol: Mthfd1
Name: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
RGD ID: 708531
Description: Predicted to enable formate-tetrahydrofolate ligase activity; methenyltetrahydrofolate cyclohydrolase activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Involved in one-carbon metabolic process and response to nitrogen dioxide. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; abdominal aortic aneurysm; cleft lip; developmental cardiac valvular defect; and neural tube defect (multiple). Orthologous to human MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1); PARTICIPATES IN altered folate cycle metabolic pathway; altered folate mediated one-carbon metabolic pathway; folate cycle metabolic pathway; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: C-1-tetrahydrofolate synthase, cytoplasmic; C1-tetrahydrofolate synthase; C1-THF synthase; LOC64300; methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase; methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86100,713,510 - 100,781,013 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl6100,713,681 - 100,781,957 (+)EnsemblGRCr8
mRatBN7.2694,977,862 - 95,045,375 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl694,977,862 - 95,045,372 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx695,371,191 - 95,438,507 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0695,669,698 - 95,737,014 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0695,098,499 - 95,165,827 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0699,282,850 - 99,350,367 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl699,282,850 - 99,350,340 (+)Ensemblrn6Rnor6.0
Rnor_5.06108,694,405 - 108,761,922 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4698,849,446 - 98,916,936 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera693,402,792 - 93,470,182 (+)NCBICelera
RGSC_v3.1698,852,901 - 98,920,392 (+)NCBI
Cytogenetic Map6q24NCBI
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (ISO)
2,6-dimethoxyphenol  (ISO)
2-butoxyethanol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
amitrole  (EXP)
ammonium chloride  (EXP)
amphetamine  (EXP)
aristolochic acid A  (ISO)
arsenous acid  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
beta-lapachone  (ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
Brodifacoum  (EXP)
buspirone  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
coumestrol  (ISO)
Cuprizon  (EXP)
cyclosporin A  (ISO)
DDE  (ISO)
decabromodiphenyl ether  (ISO)
deguelin  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (EXP,ISO)
dimethyl sulfoxide  (ISO)
dioxygen  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
Enterolactone  (ISO)
entinostat  (ISO)
enzyme inhibitor  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
folic acid  (ISO)
furfural  (ISO)
genistein  (ISO)
glafenine  (EXP)
glyphosate  (ISO)
GSK-J4  (ISO)
hydroquinone  (ISO)
ivermectin  (ISO)
L-methionine  (ISO)
lead(0)  (ISO)
menadione  (ISO)
Mesaconitine  (EXP)
methimazole  (EXP)
methotrexate  (ISO)
methyl methanesulfonate  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
nitrates  (ISO)
nitrogen dioxide  (ISO)
ochratoxin A  (ISO)
oxaliplatin  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (EXP)
resveratrol  (ISO)
rotenone  (EXP,ISO)
S-adenosyl-L-methioninate  (ISO)
S-adenosyl-L-methionine  (ISO)
SB 431542  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
sulfadimethoxine  (EXP)
sunitinib  (ISO)
temozolomide  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
thiram  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
trichostatin A  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
tunicamycin  (ISO)
urethane  (ISO)
valproic acid  (ISO)
vancomycin  (ISO)
vorinostat  (ISO)
zinc sulfate  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IEA,ISO)

References

References - curated
# Reference Title Reference Citation
1. Nitrous oxide exposure reduces hepatic C1-tetrahydrofolate synthase expression in rats. Barlowe CK and Appling DR, Biochem Biophys Res Commun. 1988 Nov 30;157(1):245-9.
2. Maternal Mthfd1 disruption impairs fetal growth but does not cause neural tube defects in mice. Beaudin AE, etal., Am J Clin Nutr. 2012 Apr;95(4):882-91. doi: 10.3945/ajcn.111.030783. Epub 2012 Feb 29.
3. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. Christensen KE, etal., Hum Mutat. 2009 Feb;30(2):212-20. doi: 10.1002/humu.20830.
4. Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk. De Marco P, etal., J Hum Genet. 2006;51(2):98-103. Epub 2005 Nov 29.
5. Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain. Fountoulakis M, etal., J Neural Transm Suppl. 2003;(67):85-93.
6. One-carbon metabolism enzyme polymorphisms and uteroplacental insufficiency. Furness DL, etal., Am J Obstet Gynecol. 2008 Sep;199(3):276.e1-8. doi: 10.1016/j.ajog.2008.06.020.
7. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
8. Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm. Giusti B, etal., J Med Genet. 2008 Nov;45(11):721-30. doi: 10.1136/jmg.2008.057851. Epub 2008 Jul 17.
9. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
10. Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. Hol FA, etal., Clin Genet. 1998 Feb;53(2):119-25.
11. Characterization of the rat cytoplasmic C1-tetrahydrofolate synthase gene and analysis of its expression in liver regeneration and fetal development. Howard KM, etal., Gene 2003 Nov 13;319:85-97.
12. Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women. Izci Ay O, etal., Genet Test Mol Biomarkers. 2015 Apr;19(4):191-7. doi: 10.1089/gtmb.2014.0262. Epub 2015 Feb 11.
13. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
14. The role of 401a>G polymorphism of methylenetetrahydrofolate dehydrogenase gene (MTHFD1) in fetal hypotrophy. Lorenc A, etal., Ginekol Pol. 2014 Jul;85(7):494-9.
15. Association between MTHFD1 polymorphisms and neural tube defect susceptibility. Meng J, etal., J Neurol Sci. 2015 Jan 15;348(1-2):188-94. doi: 10.1016/j.jns.2014.12.001. Epub 2014 Dec 6.
16. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
17. Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate. Mills JL, etal., Birth Defects Res A Clin Mol Teratol. 2008 Sep;82(9):636-43. doi: 10.1002/bdra.20491.
18. Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population. Murthy J, etal., Med Oral Patol Oral Cir Bucal. 2014 Nov 1;19(6):e616-21.
19. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
20. The MTHFD1 gene is not involved in cleft lip with or without palate onset among the Italian population. Palmieri A, etal., Ann Hum Genet. 2008 May;72(Pt 3):297-9. doi: 10.1111/j.1469-1809.2007.00428.x. Epub 2008 Jan 6.
21. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
22. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
23. GOA pipeline RGD automated data pipeline
24. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
25. Trafficking of intracellular folates. Stover PJ and Field MS, Adv Nutr. 2011 Jul;2(4):325-31. doi: 10.3945/¿an.111.000596. Epub 2011 Jun 28.
26. Polymorphisms in 1-carbon metabolism, epigenetics and folate-related pathologies. Stover PJ J Nutrigenet Nutrigenomics. 2011;4(5):293-305. doi: 10.1159/000334586. Epub 2012 Feb 22.
27. Rat C1-tetrahydrofolate synthase. cDNA isolation, tissue-specific levels of the mRNA, and expression of the protein in yeast. Thigpen AE, etal., J Biol Chem 1990 May 15;265(14):7907-13.
28. Update and new concepts in vitamin responsive disorders of folate transport and metabolism. Watkins D and Rosenblatt DS, J Inherit Metab Dis. 2012 Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1. Epub 2011 Nov 23.
29. BHMT G742A and MTHFD1 G1958A polymorphisms and Down syndrome risk in the Brazilian population. Zampieri BL, etal., Genet Test Mol Biomarkers. 2012 Jun;16(6):628-31. doi: 10.1089/gtmb.2011.0257. Epub 2012 Feb 17.
Additional References at PubMed
PMID:1881876   PMID:12477932   PMID:14651853   PMID:18511206   PMID:18614015   PMID:19056867   PMID:19946888   PMID:20458337   PMID:23190757   PMID:23376485   PMID:23533145   PMID:23704330  
PMID:25633902   PMID:26316108  


Genomics

Comparative Map Data
Mthfd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86100,713,510 - 100,781,013 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl6100,713,681 - 100,781,957 (+)EnsemblGRCr8
mRatBN7.2694,977,862 - 95,045,375 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl694,977,862 - 95,045,372 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx695,371,191 - 95,438,507 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0695,669,698 - 95,737,014 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0695,098,499 - 95,165,827 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0699,282,850 - 99,350,367 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl699,282,850 - 99,350,340 (+)Ensemblrn6Rnor6.0
Rnor_5.06108,694,405 - 108,761,922 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4698,849,446 - 98,916,936 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera693,402,792 - 93,470,182 (+)NCBICelera
RGSC_v3.1698,852,901 - 98,920,392 (+)NCBI
Cytogenetic Map6q24NCBI
MTHFD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381464,388,353 - 64,460,025 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1464,388,031 - 64,463,457 (+)Ensemblhg38GRCh38
GRCh371464,855,071 - 64,926,743 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361463,924,846 - 63,996,474 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341463,924,845 - 63,996,474NCBI
Celera1444,912,512 - 44,984,454 (+)NCBICelera
Cytogenetic Map14q23.3NCBI
HuRef1445,027,910 - 45,099,523 (+)NCBIHuRef
CHM1_11464,794,532 - 64,866,438 (+)NCBICHM1_1
T2T-CHM13v2.01458,596,072 - 58,667,774 (+)NCBIT2T-CHM13v2.0
Mthfd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391276,301,180 - 76,366,594 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1276,302,072 - 76,366,577 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381276,254,406 - 76,319,820 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1276,255,298 - 76,319,803 (+)Ensemblmm10GRCm38
MGSCv371277,356,219 - 77,420,807 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361277,174,248 - 77,238,643 (+)NCBIMGSCv36mm8
Celera1277,346,103 - 77,410,765 (+)NCBICelera
Cytogenetic Map12C3NCBI
cM Map1233.52NCBI
Mthfd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554665,420,702 - 5,485,773 (-)Ensembl
ChiLan1.0NW_0049554665,422,141 - 5,485,773 (-)NCBIChiLan1.0ChiLan1.0
MTHFD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21565,499,740 - 65,571,719 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11464,716,255 - 64,788,232 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01444,969,573 - 45,041,296 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11463,223,484 - 63,293,881 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1463,223,484 - 63,293,881 (+)EnsemblpanPan2panpan1.1
MTHFD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1838,831,672 - 38,889,607 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl838,831,860 - 38,889,453 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha838,523,089 - 38,581,005 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0839,053,525 - 39,110,717 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl839,053,695 - 39,110,711 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1838,674,867 - 38,732,782 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0838,746,016 - 38,804,174 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0839,107,099 - 39,164,254 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Mthfd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864066,022,476 - 66,090,639 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364958,100,912 - 8,171,800 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049364958,100,977 - 8,170,244 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTHFD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl788,471,414 - 88,537,387 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1788,471,317 - 88,533,690 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2794,832,549 - 94,894,977 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MTHFD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12441,590,655 - 41,663,551 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2441,590,590 - 41,666,952 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605329,766,843 - 29,840,674 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mthfd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473436,560,486 - 36,620,026 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462473436,560,486 - 36,620,043 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Mthfd1
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1790,415,997 - 90,482,610 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Mthfd1
354 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:39
Count of miRNA genes:34
Interacting mature miRNAs:39
Transcripts:ENSRNOT00000008374
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
4145119Mcs25Mammary carcinoma susceptibility QTL 250.0001mammary gland integrity trait (VT:0010552)ratio of deaths to total study population during a period of time (CMO:0001023)671278722116278722Rat
12801411Schws8Schwannoma susceptibility QTL 8nervous system integrity trait (VT:0010566)percentage of study population developing trigeminal nerve neurilemmomas during a period of time (CMO:0002017)6100704576101593851Rat
70176Mcsm1Mammary carcinoma susceptibility modifier QTL 1mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)664367996109367996Rat
2293088Iddm28Insulin dependent diabetes mellitus QTL 285.21blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)668767270135411972Rat
1331799Bp211Blood pressure QTL 2113.66407arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)688019181136741135Rat
10054138Gmadr3Adrenal mass QTL 33.680.00045adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)690871046135871046Rat
1581563Uae33Urinary albumin excretion QTL 33urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)693560258136550638Rat
1641917Colcr5Colorectal carcinoma resistance QTL 53.180.0009intestine integrity trait (VT:0010554)benign colorectal tumor number (CMO:0001795)698944780143944780Rat
61414Pia3Pristane induced arthritis QTL 34.5joint integrity trait (VT:0010548)post-insult time to onset of experimental arthritis (CMO:0001450)6100704576136029228Rat
724524Uae2Urinary albumin excretion QTL 22.70.0005urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)679198463144254945Rat
737827Hcar11Hepatocarcinoma resistance QTL 114.4liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)646050607116278722Rat
2303624Vencon5Ventilatory control QTL 54.45respiration trait (VT:0001943)minute ventilation (CMO:0000132)693778632138778632Rat
1576309Emca7Estrogen-induced mammary cancer QTL 74mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)620859430113082285Rat
2293837Kiddil1Kidney dilation QTL 13.7kidney pelvis morphology trait (VT:0004194)hydronephrosis severity score (CMO:0001208)686867923110125012Rat
61329Eae9Experimental allergic encephalomyelitis QTL 93.7body mass (VT:0001259)change in body weight (CMO:0002045)684490437129490437Rat
2293842Kiddil3Kidney dilation QTL 34.3kidney pelvis morphology trait (VT:0004194)hydronephrosis severity score (CMO:0001208)686867923110125012Rat
10054123Srcrt6Stress Responsive Cort QTL 62.50.0043blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)690871046135871046Rat
724536Uae7Urinary albumin excretion QTL 73.5urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)693560258136550638Rat
1576302Schws4Schwannoma susceptibility QTL 40.0078nervous system integrity trait (VT:0010566)percentage of study population developing trigeminal nerve neurilemmomas during a period of time (CMO:0002017)678204640123204640Rat
1581550Pur8Proteinuria QTL 8urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)693560258136550638Rat
1300075Glom7Glomerulus QTL 75.60.0000002kidney glomerulus morphology trait (VT:0005325)count of superficial glomeruli not directly contacting the kidney surface (CMO:0001002)676937178121937178Rat
1331789Rf37Renal function QTL 373.224kidney blood vessel physiology trait (VT:0100012)absolute change in renal vascular resistance (CMO:0001900)686494122112380234Rat
1331725Bp212Blood pressure QTL 2123.52475arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)699437079125323237Rat
1331722Thshl1Thyroid stimulating hormone level QTL 111.70.0001blood thyroid-stimulating hormone amount (VT:0005119)serum thyroid stimulating hormone level (CMO:0001248)699708426112483760Rat


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
16 12 67 164 91 90 59 92 59 6 356 192 11 143 81 92 31 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000008374   ⟹   ENSRNOP00000008374
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl6100,713,694 - 100,781,957 (+)Ensembl
mRatBN7.2 Ensembl694,977,862 - 95,045,358 (+)Ensembl
Rnor_6.0 Ensembl699,282,850 - 99,350,340 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000096920   ⟹   ENSRNOP00000081958
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl6100,728,539 - 100,781,957 (+)Ensembl
mRatBN7.2 Ensembl694,992,682 - 95,045,371 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000100467   ⟹   ENSRNOP00000089780
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl6100,713,681 - 100,781,012 (+)Ensembl
mRatBN7.2 Ensembl694,978,076 - 95,045,371 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000100905   ⟹   ENSRNOP00000077791
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl6100,727,711 - 100,781,012 (+)Ensembl
mRatBN7.2 Ensembl694,992,033 - 95,045,370 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000102267   ⟹   ENSRNOP00000084897
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl6100,713,694 - 100,781,957 (+)Ensembl
mRatBN7.2 Ensembl694,978,088 - 95,045,372 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000108661   ⟹   ENSRNOP00000084672
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl6100,728,330 - 100,781,957 (+)Ensembl
mRatBN7.2 Ensembl694,992,682 - 95,045,371 (+)Ensembl
RefSeq Acc Id: NM_022508   ⟹   NP_071953
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr86100,713,510 - 100,781,000 (+)NCBI
mRatBN7.2694,977,862 - 95,045,358 (+)NCBI
Rnor_6.0699,282,850 - 99,350,340 (+)NCBI
Rnor_5.06108,694,405 - 108,761,922 (+)NCBI
RGSC_v3.4698,849,446 - 98,916,936 (+)RGD
Celera693,402,792 - 93,470,182 (+)RGD
Sequence:
RefSeq Acc Id: XM_006240249   ⟹   XP_006240311
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr86100,727,679 - 100,781,013 (+)NCBI
mRatBN7.2694,992,031 - 95,045,375 (+)NCBI
Rnor_6.0699,296,677 - 99,350,367 (+)NCBI
Rnor_5.06108,694,405 - 108,761,922 (+)NCBI
Sequence:
RefSeq Acc Id: NP_071953   ⟸   NM_022508
- UniProtKB: Q62808 (UniProtKB/Swiss-Prot),   P27653 (UniProtKB/Swiss-Prot),   G3V6S5 (UniProtKB/TrEMBL),   A6HCA0 (UniProtKB/TrEMBL),   Q5EBC3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006240311   ⟸   XM_006240249
- Peptide Label: isoform X1
- UniProtKB: Q62808 (UniProtKB/Swiss-Prot),   P27653 (UniProtKB/Swiss-Prot),   A0A8I5ZJK8 (UniProtKB/TrEMBL),   Q5EBC3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000008374   ⟸   ENSRNOT00000008374
Ensembl Acc Id: ENSRNOP00000077791   ⟸   ENSRNOT00000100905
Ensembl Acc Id: ENSRNOP00000084897   ⟸   ENSRNOT00000102267
Ensembl Acc Id: ENSRNOP00000081958   ⟸   ENSRNOT00000096920
Ensembl Acc Id: ENSRNOP00000084672   ⟸   ENSRNOT00000108661
Ensembl Acc Id: ENSRNOP00000089780   ⟸   ENSRNOT00000100467
Protein Domains
Tetrahydrofolate dehydrogenase/cyclohydrolase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P27653-F1-model_v2 AlphaFold P27653 1-935 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13694675
Promoter ID:EPDNEW_R5197
Type:initiation region
Name:Mthfd1_1
Description:methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolatesynthetase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0699,282,950 - 99,283,010EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:708531 AgrOrtholog
BioCyc Gene G2FUF-37066 BioCyc
Ensembl Genes ENSRNOG00000005602 Ensembl, ENTREZGENE
Ensembl Transcript ENSRNOT00000008374 ENTREZGENE
  ENSRNOT00000100905 ENTREZGENE
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot
  Domain 2, N(10)-formyltetrahydrofolate synthetase UniProtKB/Swiss-Prot
  Formyltetrahydrofolate synthetase, domain 3 UniProtKB/Swiss-Prot
  Leucine Dehydrogenase, chain A, domain 1 UniProtKB/Swiss-Prot
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot
IMAGE_CLONE IMAGE:7323085 IMAGE-MGC_LOAD
InterPro Aminiacid_DH-like_N_sf UniProtKB/Swiss-Prot
  Formate_THF_ligase UniProtKB/Swiss-Prot
  Formate_THF_ligase_CS UniProtKB/Swiss-Prot
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
  THF_DH/CycHdrlase UniProtKB/Swiss-Prot
  THF_DH/CycHdrlase_cat_dom UniProtKB/Swiss-Prot
  THF_DH/CycHdrlase_CS UniProtKB/Swiss-Prot
  THF_DH/CycHdrlase_NAD-bd_dom UniProtKB/Swiss-Prot
KEGG Report rno:64300 UniProtKB/Swiss-Prot
MGC_CLONE MGC:108690 IMAGE-MGC_LOAD
NCBI Gene 64300 ENTREZGENE
PANTHER C-1-TETRAHYDROFOLATE SYNTHASE, CYTOPLASMIC UniProtKB/Swiss-Prot
  C-1-TETRAHYDROFOLATE SYNTHASE, CYTOPLASMIC-RELATED UniProtKB/Swiss-Prot
Pfam FTHFS UniProtKB/Swiss-Prot
  THF_DHG_CYH UniProtKB/Swiss-Prot
  THF_DHG_CYH_C UniProtKB/Swiss-Prot
PharmGKB MTHFD1 RGD
PhenoGen Mthfd1 PhenoGen
PRINTS THFDHDRGNASE UniProtKB/Swiss-Prot
PROSITE FTHFS_1 UniProtKB/Swiss-Prot
  FTHFS_2 UniProtKB/Swiss-Prot
  THF_DHG_CYH_1 UniProtKB/Swiss-Prot
  THF_DHG_CYH_2 UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000005602 RatGTEx
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot
  SSF52540 UniProtKB/Swiss-Prot
  SSF53223 UniProtKB/Swiss-Prot
UniProt A0A8I5ZJK8 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5ZXQ9_RAT UniProtKB/TrEMBL
  A0A8I5ZYX2_RAT UniProtKB/TrEMBL
  A0A8I6G8Q3_RAT UniProtKB/TrEMBL
  A0A8I6GID7_RAT UniProtKB/TrEMBL
  A6HCA0 ENTREZGENE, UniProtKB/TrEMBL
  A6HCA1_RAT UniProtKB/TrEMBL
  C1TC_RAT UniProtKB/Swiss-Prot
  G3V6S5 ENTREZGENE, UniProtKB/TrEMBL
  P27653 ENTREZGENE
  Q5EBC3 ENTREZGENE, UniProtKB/TrEMBL
  Q62808 ENTREZGENE
UniProt Secondary Q62808 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-12 Mthfd1  methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1  Mthfd1  methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-08-29 Mthfd1  methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase  Mthfd1  methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2004-12-14 Mthfd1  methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase  LOC64300  C1-tetrahydrofolate synthase  Symbol and Name updated 1299863 APPROVED

RGD Curation Notes
Note Type Note Reference