methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

Summary
Gene Symbol
  • MTHFD1
Organism
Homo sapiens (human)
NCBI Gene
4522
HGNC
7432
PubChem
4522
Alliance of Genome Resources
JoGo
MTHFD1
TogoVar
MTHFD1
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Acetylation
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Hydrolase
  • Ligase
  • Multifunctional enzyme
  • NADP
  • One-carbon metabolism
  • Oxidoreductase
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
Proteins
Displaying all 2 entries
UniProt Protein Name
F5H2F4
P11586
  • Epididymis secretory sperm binding protein
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000100714

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying all 8 entries
DO ID Disease Name Source
DOID:0080016 spina bifida
DOID:0080074 neural tube defect
DOID:0080633 developmental cardiac valvular defect
DOID:14250 Down syndrome
DOID:6419 tetralogy of Fallot
DOID:674 cleft palate
DOID:7693 abdominal aortic aneurysm
DOID:9296 cleft lip
The Human Phenotype Ontology
Displaying entries 1 - 10 of 24 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000365 Hearing impairment
HP:0000964 Eczematoid dermatitis
HP:0001250 Seizure
HP:0001256 Intellectual disability, mild
HP:0001876 Pancytopenia
HP:0001888 Lymphopenia
HP:0001889 Megaloblastic anemia
HP:0001894 Thrombocytosis
HP:0001939 Abnormality of metabolism/homeostasis
Displaying all 2 entries
Disease ID Disease Name
OMIM:601634
  • neural tube defects, folate-sensitive
OMIM:617780
  • combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
ChIP-Atlas
Target Genes
Predicted target genes bound by given transcription factors. Target Genes
Potential target genes for MTHFD1
Distance from TSS: ± 10 kb
Displaying 1 entry
Gene Symbol Description Cellline (score)
UDP glucuronosyltransferase family 1 member A4
  • HAP1(215)
Colocalization
Predicted partner proteins colocalizing with given transcription factors. Colocalization
Colocalization analysis for MTHFD1
Displaying all 7 entries
Gene Symbol Description Cellline (score)
INO80 complex ATPase subunit
  • CD4-Positive_T-Lymphocytes(0)
  • SK-MEL-147(0)
histone deacetylase 2
  • CD4-Positive_T-Lymphocytes(0)
  • Erythroid_progenitors(0)
  • HL-60(0)
  • K-562(0)
  • Kasumi-1(0)
  • MM.1S(0)
  • Pre-B_cells(0)
histone deacetylase 4
  • MM.1S(0)
histone deacetylase 3
  • Acute_myeloid_leukemia(0)
  • CD4-Positive_T-Lymphocytes(0)
  • MM.1S(0)
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
  • HAP1(10)
  • HAP1(9)
WRN helicase interacting protein 1
  • GM12878(0)
MORC family CW-type zinc finger 2
  • K-562(0)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 6, 2026