MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1)

2009-11-01  

Identity

HGNC
MTHFD1
LOCATION
14q23.3
LOCUSID
4522
ALIAS
CIMAH,MTHFC,MTHFD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4522
MIM: 172460
HGNC: 7432
Ensembl: ENSG00000100714

Variants:

dbSNP: 4522
ClinVar: 4522
TCGA: ENSG00000100714
COSMIC: MTHFD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100714ENST00000545908F5H2F4
ENSG00000100714ENST00000554739V9GZ32
ENSG00000100714ENST00000554768V9GZ78
ENSG00000100714ENST00000555709P11586
ENSG00000100714ENST00000557370V9GYY3
ENSG00000100714ENST00000557539V9GY75
ENSG00000100714ENST00000651537A0A384N5Y3
ENSG00000100714ENST00000652179V9GZ78
ENSG00000100714ENST00000652337A0A384N5Y3
ENSG00000100714ENST00000652509A0A494C1T2

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
One carbon pool by folateKEGGko00670
One carbon pool by folateKEGGhsa00670
Metabolic pathwaysKEGGhsa01100
C1-unit interconversion, eukaryotesKEGGhsa_M00141
C1-unit interconversion, eukaryotesKEGGM00141
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Metabolism of folate and pterinesREACTOMER-HSA-196757

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444937MesotheliomaDiseaseClinicalAnnotationassociatedPKPD14647408, 15797993
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotationassociatedPKPD14647408, 15797993
PA450428methotrexateChemicalClinicalAnnotation, VariantAnnotationambiguousPKPD14647408, 15797993

References

Pubmed IDYearTitleCitations
383367492024MTHFD1 regulates the NADPH redox homeostasis in MYCN-amplified neuroblastoma.1
383367492024MTHFD1 regulates the NADPH redox homeostasis in MYCN-amplified neuroblastoma.1
369130672023The negative effect of G1958A polymorphism on MTHFD1 protein stability and HCC growth.2
369130672023The negative effect of G1958A polymorphism on MTHFD1 protein stability and HCC growth.2
349044482022Association Between MTHFD1 1958G > A Variant and non-Syndromic Cleft lip and Palate: An Updated Meta-Analysis.1
351009772022Association of MTHFD1 gene polymorphisms and maternal smoking with risk of congenital heart disease: a hospital-based case-control study.5
358941962022[Association of maternal MTHFD1 and MTHFD2 gene polymorphisms with congenital heart disease in offspring].0
349044482022Association Between MTHFD1 1958G > A Variant and non-Syndromic Cleft lip and Palate: An Updated Meta-Analysis.1
351009772022Association of MTHFD1 gene polymorphisms and maternal smoking with risk of congenital heart disease: a hospital-based case-control study.5
358941962022[Association of maternal MTHFD1 and MTHFD2 gene polymorphisms with congenital heart disease in offspring].0
310992772021Association of methionine synthase (rs1805087), methionine synthase reductase (rs1801394), and methylenetetrahydrofolate dehydrogenase 1 (rs2236225) genetic polymorphisms with recurrent implantation failure.1
333824842021A comprehensive association analysis between homocysteine metabolic pathway gene methylation and ischemic stroke in a Chinese hypertensive population.1
345448652021Orthogonal genome-wide screens of bat cells identify MTHFD1 as a target of broad antiviral therapy.22
310992772021Association of methionine synthase (rs1805087), methionine synthase reductase (rs1801394), and methylenetetrahydrofolate dehydrogenase 1 (rs2236225) genetic polymorphisms with recurrent implantation failure.1
333824842021A comprehensive association analysis between homocysteine metabolic pathway gene methylation and ischemic stroke in a Chinese hypertensive population.1

Citation

Dessen P

MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51235/mthfd1-(methylenetetrahydrofolate-dehydrogenase-cyclohydrolase-and-formyltetrahydrofolate-synthetase-1)