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
Analyze
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 [NAD(P)+] activity. Involved in one-carbon metabolic process and response to nitrogen dioxide. 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
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86100,713,510 - 100,781,013 (+)NCBIGRCr8
mRatBN7.2694,977,862 - 95,045,375 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl694,977,862 - 95,045,372 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx695,371,191 - 95,438,507 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0695,669,698 - 95,737,014 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0695,098,499 - 95,165,827 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0699,282,850 - 99,350,367 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl699,282,850 - 99,350,340 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06108,694,405 - 108,761,922 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4698,849,446 - 98,916,936 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1698,852,901 - 98,920,392 (+)NCBI
Celera693,402,792 - 93,470,182 (+)NCBICelera
Cytogenetic Map6q24NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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-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)
bisphenol A  (EXP,ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
Brodifacoum  (EXP)
buspirone  (EXP)
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)
decabromodiphenyl ether  (ISO)
deguelin  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (EXP,ISO)
dioxygen  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
Enterolactone  (ISO)
entinostat  (ISO)
enzyme inhibitor  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
folic acid  (ISO)
genistein  (ISO)
glafenine  (EXP)
glyphosate  (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)
oxaliplatin  (EXP)
paracetamol  (EXP,ISO)
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 arsenite  (EXP,ISO)
sulfadimethoxine  (EXP)
sunitinib  (ISO)
temozolomide  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
topotecan  (EXP)
trichostatin A  (ISO)
trimellitic anhydride  (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
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 (+)NCBIGRCr8
mRatBN7.2694,977,862 - 95,045,375 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl694,977,862 - 95,045,372 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx695,371,191 - 95,438,507 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0695,669,698 - 95,737,014 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0695,098,499 - 95,165,827 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0699,282,850 - 99,350,367 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl699,282,850 - 99,350,340 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06108,694,405 - 108,761,922 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4698,849,446 - 98,916,936 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1698,852,901 - 98,920,392 (+)NCBI
Celera693,402,792 - 93,470,182 (+)NCBICelera
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 (+)EnsemblGRCh38hg38GRCh38
GRCh371464,855,071 - 64,926,743 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361463,924,846 - 63,996,474 (+)NCBINCBI36Build 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 Ensembl
GRCm381276,254,406 - 76,319,820 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1276,255,298 - 76,319,803 (+)EnsemblGRCm38mm10GRCm38
MGSCv371277,356,219 - 77,420,807 (+)NCBIGRCm37MGSCv37mm9NCBIm37
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 (-)EnsemblChiLan1.0
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 (+)Ensemblpanpan1.1panPan2
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 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha838,523,089 - 38,581,005 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0839,053,525 - 39,110,717 (+)NCBIROS_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_1.0
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 (+)EnsemblSpeTri2.0SpeTri2.0 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 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
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 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
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_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473436,560,486 - 36,620,043 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Mthfd1
523 total Variants
miRNA Target Status

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 (mRatBN7.2)
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)610894415110548006Rat
1576309Emca7Estrogen-induced mammary cancer QTL 74mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)615107216107351382Rat
634330Pia16Pristane induced arthritis QTL 163.9joint integrity trait (VT:0010548)arthritic paw count (CMO:0001460)645790088104200226Rat
6893332Cm74Cardiac mass QTL 740.40.64heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)657730540104085867Rat
1558641Cm47Cardiac mass QTL 472.90.001heart mass (VT:0007028)heart wet weight (CMO:0000069)657730540104085867Rat
70176Mcsm1Mammary carcinoma susceptibility modifier QTL 1mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)658632962103632962Rat
12801471Schws9Schwannoma susceptibility QTL 9nervous system integrity trait (VT:0010566)percentage of study population developing trigeminal nerve neurilemmomas during a period of time (CMO:0002017)661747639106747639Rat
731173Uae22Urinary albumin excretion QTL 2210.1urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)665531555140994061Rat
2290393Uae37Urinary albumin excretion QTL 370.0001urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)665531555140994061Rat
1641904Alcrsp4Alcohol response QTL 4response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)667262953112262953Rat
1300075Glom7Glomerulus QTL 75.60.0000002kidney glomerulus morphology trait (VT:0005325)count of superficial glomeruli not directly contacting the kidney surface (CMO:0001002)671201409116201409Rat
1331789Rf37Renal function QTL 373.224kidney blood vessel physiology trait (VT:0100012)absolute change in renal vascular resistance (CMO:0001900)672202632115200186Rat
70196BpQTLcluster7Blood pressure QTL cluster 76.82arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)672202632117202632Rat
724536Uae7Urinary albumin excretion QTL 73.5urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)672202632130729475Rat
1331799Bp211Blood pressure QTL 2113.66407arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)672202632130919985Rat
1581550Pur8Proteinuria QTL 8urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)672227641130729205Rat
1581563Uae33Urinary albumin excretion QTL 33urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)672227641130729205Rat
724524Uae2Urinary albumin excretion QTL 22.70.0005urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)673463459109394713Rat
2293837Kiddil1Kidney dilation QTL 13.7kidney pelvis morphology trait (VT:0004194)hydronephrosis severity score (CMO:0001208)681132889104393926Rat
2293842Kiddil3Kidney dilation QTL 34.3kidney pelvis morphology trait (VT:0004194)hydronephrosis severity score (CMO:0001208)681132889104393926Rat
737827Hcar11Hepatocarcinoma resistance QTL 114.4liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)682523650110548006Rat
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)683190345106747639Rat
738034Anxrr5Anxiety related response QTL 55.9exploratory behavior trait (VT:0010471)percentage of entries into a discrete space in an experimental apparatus (CMO:0000961)684130881129130881Rat
10054138Gmadr3Adrenal mass QTL 33.680.00045adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)685140138130140138Rat
10054123Srcrt6Stress Responsive Cort QTL 62.50.0043blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)685140138130140138Rat
724513Uae14Urinary albumin excretion QTL 146.5urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)685311061133478515Rat
1300076Glom8Glomerulus QTL 870.000000009kidney glomerulus morphology trait (VT:0005325)count of superficial glomeruli directly contacting the kidney surface (CMO:0001001)686894788131894788Rat
2303624Vencon5Ventilatory control QTL 54.45respiration trait (VT:0001943)minute ventilation (CMO:0000132)688047916133047916Rat
1331722Thshl1Thyroid stimulating hormone level QTL 111.70.0001blood thyroid-stimulating hormone amount (VT:0005119)serum thyroid stimulating hormone level (CMO:0001248)689762877106752806Rat
1331725Bp212Blood pressure QTL 2123.52475arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)693701310128713626Rat
61414Pia3Pristane induced arthritis QTL 34.5joint integrity trait (VT:0010548)post-insult time to onset of experimental arthritis (CMO:0001450)694968928137848904Rat
12801411Schws8Schwannoma susceptibility QTL 8nervous system integrity trait (VT:0010566)percentage of study population developing trigeminal nerve neurilemmomas during a period of time (CMO:0002017)694968928139968928Rat


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 3 39 57 41 19 41 8 11 74 35 35 11 8
Low 4 6
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENSRNOT00000008374   ⟹   ENSRNOP00000008374
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl694,977,862 - 95,045,358 (+)Ensembl
Rnor_6.0 Ensembl699,282,850 - 99,350,340 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000096920   ⟹   ENSRNOP00000081958
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl694,992,682 - 95,045,371 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000100467   ⟹   ENSRNOP00000089780
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl694,978,076 - 95,045,371 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000100905   ⟹   ENSRNOP00000077791
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl694,992,033 - 95,045,370 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000102267   ⟹   ENSRNOP00000084897
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl694,978,088 - 95,045,372 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000108661   ⟹   ENSRNOP00000084672
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
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:
Reference Protein Sequences
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:
RefSeq Acc Id: ENSRNOP00000008374   ⟸   ENSRNOT00000008374
RefSeq Acc Id: ENSRNOP00000077791   ⟸   ENSRNOT00000100905
RefSeq Acc Id: ENSRNOP00000084897   ⟸   ENSRNOT00000102267
RefSeq Acc Id: ENSRNOP00000081958   ⟸   ENSRNOT00000096920
RefSeq Acc Id: ENSRNOP00000084672   ⟸   ENSRNOT00000108661
RefSeq 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, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000008374 ENTREZGENE
  ENSRNOT00000008374.4 UniProtKB/TrEMBL
  ENSRNOT00000096920.1 UniProtKB/TrEMBL
  ENSRNOT00000100467.1 UniProtKB/TrEMBL
  ENSRNOT00000100905.1 UniProtKB/TrEMBL
  ENSRNOT00000102267.1 UniProtKB/TrEMBL
  ENSRNOT00000108661.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.8.770 UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Domain 2, N(10)-formyltetrahydrofolate synthetase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formyltetrahydrofolate synthetase, domain 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leucine Dehydrogenase, chain A, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7323085 IMAGE-MGC_LOAD
InterPro Aminiacid_DH-like_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formate_THF_ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formate_THF_ligase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DH/CycHdrlase_NAD-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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, UniProtKB/TrEMBL
  C-1-TETRAHYDROFOLATE SYNTHASE, CYTOPLASMIC-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FTHFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DHG_CYH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DHG_CYH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MTHFD1 RGD
PhenoGen Mthfd1 PhenoGen
PRINTS THFDHDRGNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FTHFS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FTHFS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DHG_CYH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THF_DHG_CYH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000005602 RatGTEx
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53223 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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