MTHFD1L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like)

2007-04-01  

Identity

HGNC
MTHFD1L
LOCATION
6q25.1
LOCUSID
25902
ALIAS
FTHFSDC1,MTC1THFS,dJ292B18.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25902
MIM: 611427
HGNC: 21055
Ensembl: ENSG00000120254

Variants:

dbSNP: 25902
ClinVar: 25902
TCGA: ENSG00000120254
COSMIC: MTHFD1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120254ENST00000367307Q6UB35
ENSG00000120254ENST00000367308H0Y327
ENSG00000120254ENST00000367321Q6UB35
ENSG00000120254ENST00000420192Q4VXV2
ENSG00000120254ENST00000423867Q5JYA3
ENSG00000120254ENST00000441122Q5JYA8
ENSG00000120254ENST00000450635Q4VXM1
ENSG00000120254ENST00000453602Q4VXM0
ENSG00000120254ENST00000611279B7ZM99
ENSG00000120254ENST00000618312A0A087WVM4

Expression (GTEx)

0
10
20
30
40
50
60
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

References

Pubmed IDYearTitleCitations
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.141
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
208857922010Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.60
197775762009A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.27
197775762009A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.27
129371682003Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls.26
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.21
283942612017Folate cycle enzyme MTHFD1L confers metabolic advantages in hepatocellular carcinoma.19
199554712010Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study.18
161717732005Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase.17

Citation

Dessen P

MTHFD1L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47403/mthfd1l