Mthfr (methylenetetrahydrofolate reductase) - Rat Genome Database

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Gene: Mthfr (methylenetetrahydrofolate reductase) Ictidomys tridecemlineatus
Analyze
Symbol: Mthfr
Name: methylenetetrahydrofolate reductase
RGD ID: 12542170
Description: ENCODES a protein that exhibits flavin adenine dinucleotide binding (ortholog); methylenetetrahydrofolate reductase (NAD(P)H) activity (ortholog); NADP binding (ortholog); INVOLVED IN heterochromatin organization (ortholog); homocysteine metabolic process (ortholog); methionine biosynthetic process (ortholog); PARTICIPATES IN altered folate cycle metabolic pathway; altered folate mediated one-carbon metabolic pathway; folate cycle metabolic pathway; ASSOCIATED WITH abdominal aortic aneurysm (ortholog); acute kidney failure (ortholog); acute lymphoblastic leukemia (ortholog); FOUND IN cytosol (inferred)
Type: protein-coding
RefSeq Status: MODEL
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: SpeTri2.0 - Squirrel SpeTri2.0 Assembly
Position:
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505834,798,656 - 34,813,131 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936474623,291 - 638,193 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936474623,438 - 637,849 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
abdominal aortic aneurysm  (ISO)
acute kidney failure  (ISO)
acute lymphoblastic leukemia  (ISO)
acute myeloid leukemia  (ISO)
Albuminuria  (ISO)
alcoholic liver cirrhosis  (ISO)
allergic disease  (ISO)
alopecia  (ISO)
Alzheimer's disease  (ISO)
amyotrophic lateral sclerosis  (ISO)
anemia  (ISO)
angle-closure glaucoma  (ISO)
ankylosing spondylitis  (ISO)
Aortic Coarctation  (ISO)
aphthous stomatitis  (ISO)
Arsenic Poisoning  (ISO)
Arterial Occlusive Diseases  (ISO)
asthma  (ISO)
atherosclerosis  (ISO)
attention deficit hyperactivity disorder  (ISO)
autism spectrum disorder  (ISO)
autistic disorder  (ISO)
B-Cell Chronic Lymphocytic Leukemia  (ISO)
Banti's Syndrome  (ISO)
bipolar disorder  (ISO)
brain ischemia  (ISO)
Breast Neoplasms  (ISO)
Budd-Chiari syndrome  (ISO)
cardia cancer  (ISO)
cardiovascular system disease  (ISO)
carotid stenosis  (ISO)
cataract  (ISO)
cerebral infarction  (ISO)
cervical cancer  (ISO)
cervix uteri carcinoma in situ  (ISO)
Charcot-Marie-Tooth disease type 2  (ISO)
Chemical and Drug Induced Liver Injury  (ISO)
cholangiocarcinoma  (ISO)
chromosome 1p36 deletion syndrome  (ISO)
chronic kidney disease  (ISO)
chronic myeloid leukemia  (ISO)
clear cell renal cell carcinoma  (ISO)
cleft lip  (ISO)
clubfoot  (ISO)
Cognitive Dysfunction  (ISO)
Colonic Neoplasms  (ISO)
Colorectal Neoplasms  (ISO)
congenital heart disease  (ISO)
Conotruncal Cardiac Defects  (ISO)
coronary artery disease  (ISO)
Coronary Disease  (ISO)
coronary restenosis  (ISO)
Crohn's disease  (ISO)
Cytomegalovirus Infections  (ISO)
depressive disorder  (ISO)
Developmental Disabilities  (ISO)
dextro-looped transposition of the great arteries  (ISO)
diabetes mellitus  (ISO)
diabetic angiopathy  (ISO)
Diabetic Nephropathies  (ISO)
diabetic retinopathy  (ISO)
diffuse large B-cell lymphoma  (ISO)
Down syndrome  (ISO)
Drug Eruptions  (ISO)
Drug-Related Side Effects and Adverse Reactions  (ISO)
Ehlers-Danlos syndrome kyphoscoliotic type 1  (ISO)
end stage renal disease  (ISO)
Endometrial Neoplasms  (ISO)
epilepsy with generalized tonic-clonic seizures  (ISO)
Experimental Diabetes Mellitus  (ISO)
eye disease  (ISO)
factor VIII deficiency  (ISO)
Familial Atrial Fibrillation 6  (ISO)
familial Mediterranean fever  (ISO)
Female Infertility  (ISO)
Folate-Sensitive Neural Tube Defects  (ISO)
follicular lymphoma  (ISO)
gastrointestinal stromal tumor  (ISO)
gastrointestinal system disease  (ISO)
genetic disease  (ISO)
glomerulonephritis  (ISO)
graft-versus-host disease  (ISO)
Graves' disease  (ISO)
Habitual Abortions  (ISO)
Hearing Loss  (ISO)
Helicobacter Infections  (ISO)
Hematologic Neoplasms  (ISO)
hematopoietic system disease  (ISO)
hepatic veno-occlusive disease  (ISO)
hepatitis B  (ISO)
hepatocellular carcinoma  (ISO)
hyperhomocysteinemia  (ISO)
hyperthyroidism  (ISO)
hypopituitarism  (ISO)
hypothyroidism  (ISO)
inflammatory bowel disease  (ISO)
Inherited Blood Coagulation Disease  (ISO)
intellectual disability  (ISO)
intracranial sinus thrombosis  (ISO)
ischemia  (ISO)
kidney disease  (ISO)
kidney failure  (ISO)
Kuhnt-Junius degeneration  (ISO)
Left Ventricular Hypertrophy  (ISO)
Leukoencephalopathies  (ISO)
leukopenia  (ISO)
liver benign neoplasm  (ISO)
liver cirrhosis  (ISO)
liver disease  (ISO)
Lung Neoplasms  (ISO)
lung small cell carcinoma  (ISO)
lymphoma  (ISO)
male infertility  (ISO)
Malnutrition  (ISO)
Maxillofacial Abnormalities  (ISO)
Meniere's disease  (ISO)
metabolic dysfunction-associated steatotic liver disease  (ISO)
Methylenetetrahydrofolate Reductase Deficiency  (ISO)
Microsatellite Instability  (ISO)
Microvascular Angina  (ISO)
migraine  (ISO)
migraine with aura  (ISO)
mitral valve disease  (ISO)
Mthfr Deficiency, Thermolabile Type  (ISO)
mucositis  (ISO)
multiple myeloma  (ISO)
myeloid neoplasm  (ISO)
myelomeningocele  (ISO)
myocardial infarction  (ISO)
Necrosis  (ISO)
Neoplasm Metastasis  (ISO)
nephroblastoma  (ISO)
nephrosclerosis  (ISO)
nervous system disease  (ISO)
neural tube defect  (ISO)
neutropenia  (ISO)
non-arteritic anterior ischemic optic neuropathy  (ISO)
non-Hodgkin lymphoma  (ISO)
open-angle glaucoma  (ISO)
oral squamous cell carcinoma  (ISO)
osteonecrosis  (ISO)
osteosarcoma  (ISO)
pancreatic cancer  (ISO)
papillomavirus infectious disease  (ISO)
Parkinson's disease  (ISO)
peripheral artery disease  (ISO)
portal vein thrombosis  (ISO)
Prenatal Exposure Delayed Effects  (ISO)
prostate cancer  (ISO)
Prostatic Neoplasms  (ISO)
pulmonary embolism  (ISO)
rectal benign neoplasm  (ISO)
renal artery disease  (ISO)
renal cell carcinoma  (ISO)
retinal disease  (ISO)
retinal vein occlusion  (ISO)
rheumatoid arthritis  (ISO)
schizophrenia  (ISO)
sickle cell anemia  (ISO)
skin disease  (ISO)
smallpox  (ISO)
spina bifida  (ISO)
spinal cord disease  (ISO)
sporadic breast cancer  (ISO)
squamous cell carcinoma  (ISO)
steatotic liver disease  (ISO)
stomach cancer  (ISO)
Stomach Neoplasms  (ISO)
Stroke  (ISO)
Sudden Hearing Loss  (ISO)
tetralogy of Fallot  (ISO)
thrombocytopenia  (ISO)
thrombophilia  (ISO)
thrombophilia due to thrombin defect  (ISO)
thrombosis  (ISO)
Thrombotic Microangiopathies  (ISO)
thyrotoxicosis  (ISO)
transitional cell carcinoma  (ISO)
type 1 diabetes mellitus  (ISO)
type 2 diabetes mellitus  (ISO)
urinary bladder cancer  (ISO)
Uterine Cervical Neoplasms  (ISO)
Vascular Calcification  (ISO)
vascular dementia  (ISO)
vascular disease  (ISO)
Venous Thromboembolism  (ISO)
Venous Thrombosis  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IEA)

References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
Mthfr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505834,798,656 - 34,813,131 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936474623,291 - 638,193 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936474623,438 - 637,849 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTHFR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,785,723 - 11,805,964 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,785,723 - 11,806,455 (-)EnsemblGRCh38hg38GRCh38
GRCh37111,845,780 - 11,866,021 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,768,374 - 11,788,702 (-)NCBINCBI36Build 36hg18NCBI36
Build 34111,780,944 - 11,800,248NCBI
Celera110,959,433 - 10,979,782 (-)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef111,000,872 - 11,021,217 (-)NCBIHuRef
CHM1_1111,833,709 - 11,854,054 (-)NCBICHM1_1
T2T-CHM13v2.0111,329,802 - 11,350,048 (-)NCBIT2T-CHM13v2.0
Mthfr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394148,123,534 - 148,144,019 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4148,123,534 - 148,144,008 (+)EnsemblGRCm39 Ensembl
GRCm384148,039,077 - 148,059,562 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4148,039,077 - 148,059,551 (+)EnsemblGRCm38mm10GRCm38
MGSCv374147,413,186 - 147,433,671 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364146,885,022 - 146,903,349 (+)NCBIMGSCv36mm8
Celera4150,305,674 - 150,326,065 (+)NCBICelera
Cytogenetic Map4E1NCBI
cM Map478.67NCBI
Mthfr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85163,748,346 - 163,768,141 (+)NCBIGRCr8
mRatBN7.25158,465,248 - 158,484,999 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5158,465,296 - 158,483,797 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.05164,844,642 - 164,864,360 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5164,845,925 - 164,860,910 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05168,502,556 - 168,522,350 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45165,112,850 - 165,126,885 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15165,123,406 - 165,137,073 (+)NCBI
Celera5156,747,024 - 156,766,742 (+)NCBICelera
Cytogenetic Map5q36NCBI
Mthfr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554862,096,379 - 2,112,240 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554862,096,379 - 2,112,240 (+)NCBIChiLan1.0ChiLan1.0
MTHFR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21216,418,108 - 216,434,079 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11215,063,577 - 215,079,672 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0110,548,196 - 10,568,174 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1111,766,334 - 11,785,645 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl111,766,334 - 11,785,419 (-)Ensemblpanpan1.1panPan2
MTHFR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1284,445,526 - 84,457,435 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl284,380,919 - 84,536,818 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha280,977,302 - 80,990,296 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0285,109,058 - 85,123,378 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl285,109,070 - 85,122,016 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1281,858,180 - 81,870,539 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0282,857,476 - 82,872,293 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0283,920,334 - 83,933,329 (+)NCBIUU_Cfam_GSD_1.0
MTHFR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl671,863,637 - 71,881,820 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1671,863,637 - 71,882,118 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2665,776,804 - 65,791,405 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MTHFR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120119,987,667 - 120,003,611 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20119,990,133 - 120,002,950 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605423,855,633 - 23,871,475 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mthfr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248181,187,869 - 1,199,168 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248181,184,736 - 1,202,708 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Sequence


Ensembl Acc Id: ENSSTOT00000007592   ⟹   ENSSTOP00000006787
Type: CODING
Position:
Squirrel AssemblyChrPosition (strand)Source
SpeTri2.0 EnsemblNW_004936474623,291 - 638,193 (-)Ensembl
RefSeq Acc Id: XM_013364404   ⟹   XP_013219858
Type: CODING
Position:
Squirrel AssemblyChrPosition (strand)Source
HiC_Itri_2NW_02440505834,798,656 - 34,810,103 (-)NCBI
SpeTri2.0NW_004936474623,438 - 636,315 (-)NCBI
Sequence:
RefSeq Acc Id: XM_021733482   ⟹   XP_021589157
Type: CODING
Position:
Squirrel AssemblyChrPosition (strand)Source
HiC_Itri_2NW_02440505834,798,656 - 34,813,131 (-)NCBI
SpeTri2.0NW_004936474623,438 - 637,849 (-)NCBI
Sequence:
RefSeq Acc Id: XM_021733491   ⟹   XP_021589166
Type: CODING
Position:
Squirrel AssemblyChrPosition (strand)Source
HiC_Itri_2NW_02440505834,798,656 - 34,813,131 (-)NCBI
SpeTri2.0NW_004936474623,438 - 637,849 (-)NCBI
Sequence:
RefSeq Acc Id: XM_040287928   ⟹   XP_040143862
Type: CODING
Position:
Squirrel AssemblyChrPosition (strand)Source
HiC_Itri_2NW_02440505834,798,656 - 34,813,131 (-)NCBI
RefSeq Acc Id: XM_040287929   ⟹   XP_040143863
Type: CODING
Position:
Squirrel AssemblyChrPosition (strand)Source
HiC_Itri_2NW_02440505834,798,656 - 34,813,126 (-)NCBI
RefSeq Acc Id: XM_040287930   ⟹   XP_040143864
Type: CODING
Position:
Squirrel AssemblyChrPosition (strand)Source
HiC_Itri_2NW_02440505834,799,377 - 34,813,126 (-)NCBI
RefSeq Acc Id: XP_013219858   ⟸   XM_013364404
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_021589166   ⟸   XM_021733491
- Peptide Label: isoform X4
- UniProtKB: I3MA17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_021589157   ⟸   XM_021733482
- Peptide Label: isoform X4
- UniProtKB: I3MA17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_040143862   ⟸   XM_040287928
- Peptide Label: isoform X1
RefSeq Acc Id: XP_040143863   ⟸   XM_040287929
- Peptide Label: isoform X2
RefSeq Acc Id: XP_040143864   ⟸   XM_040287930
- Peptide Label: isoform X5
Ensembl Acc Id: ENSSTOP00000006787   ⟸   ENSSTOT00000007592


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSSTOG00000007591 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENSSTOT00000007592.3 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.220 UniProtKB/TrEMBL
InterPro FAD-linked_oxidoreductase-like UniProtKB/TrEMBL
  Fadh2_euk UniProtKB/TrEMBL
  Mehydrof_redctse-like UniProtKB/TrEMBL
  MTHFR_C UniProtKB/TrEMBL
NCBI Gene Mthfr ENTREZGENE
PANTHER METHYLENETETRAHYDROFOLATE REDUCTASE UniProtKB/TrEMBL
  METHYLENETETRAHYDROFOLATE REDUCTASE UniProtKB/TrEMBL
Pfam MTHFR UniProtKB/TrEMBL
  MTHFR_C UniProtKB/TrEMBL
Superfamily-SCOP SSF51730 UniProtKB/TrEMBL
UniProt I3MA17 ENTREZGENE, UniProtKB/TrEMBL