MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1)

2009-11-01 Affiliation

Identity

HGNC

MTHFD1

LOCATION

14q23.3

LOCUSID

4522

ALIAS

CIMAH,MTHFC,MTHFD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100714	ENST00000545908	F5H2F4
ENSG00000100714	ENST00000554739	V9GZ32
ENSG00000100714	ENST00000554768	V9GZ78
ENSG00000100714	ENST00000555709	P11586
ENSG00000100714	ENST00000557370	V9GYY3
ENSG00000100714	ENST00000557539	V9GY75
ENSG00000100714	ENST00000651537	A0A384N5Y3
ENSG00000100714	ENST00000652179	V9GZ78
ENSG00000100714	ENST00000652337	A0A384N5Y3
ENSG00000100714	ENST00000652509	A0A494C1T2

Expression (GTEx)

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

Pathway	Source	External ID
One carbon pool by folate	KEGG	ko00670
One carbon pool by folate	KEGG	hsa00670
Metabolic pathways	KEGG	hsa01100
C1-unit interconversion, eukaryotes	KEGG	hsa_M00141
C1-unit interconversion, eukaryotes	KEGG	M00141
Metabolism	REACTOME	R-HSA-1430728
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	REACTOME	R-HSA-196849
Metabolism of folate and pterines	REACTOME	R-HSA-196757

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA444937	Mesothelioma	Disease	ClinicalAnnotation	associated	PK	PD	14647408, 15797993
PA446155	Precursor Cell Lymphoblastic Leukemia-Lymphoma	Disease	ClinicalAnnotation	associated	PK	PD	14647408, 15797993
PA450428	methotrexate	Chemical	ClinicalAnnotation, VariantAnnotation	ambiguous	PK	PD	14647408, 15797993

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
16236726	2005	Genetic variation of folate-mediated one-carbon transfer pathway predicts susceptibility to choline deficiency in humans.	64
19493349	2009	118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.	62
12384833	2002	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.	60
12384833	2002	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.	60
17436311	2007	Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism.	51
17530705	2007	A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis.	47
17449906	2007	Genetic polymorphisms in one-carbon metabolism: associations with CpG island methylator phenotype (CIMP) in colon cancer and the modifying effects of diet.	46
16552426	2006	Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.	40
17035141	2006	Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.	38

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