InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MTHFD1

Summary

InnateDB Protein

IDBP-9109.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MTHFD1

Protein Name

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase

Synonyms

MTHFC; MTHFD;

Species

Homo sapiens

Ensembl Protein

ENSP00000216605

InnateDB Gene

IDBG-9107 (MTHFD1)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Cytoplasm.

Disease Associations

Folate-sensitive neural tube defects (FS-NTD) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269PubMed:12384833, ECO:0000269PubMed:16552426, ECO:0000269PubMed:9611072}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 61 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	61 [view]
Protein-Protein	54 [view]
Protein-DNA	7 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004329	formate-tetrahydrofolate ligase activity
GO:0004477	methenyltetrahydrofolate cyclohydrolase activity
GO:0004486	methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity
GO:0004488	methylenetetrahydrofolate dehydrogenase (NADP+) activity
GO:0005524	ATP binding

Biological Process

GO:0000105	histidine biosynthetic process
GO:0006164	purine nucleotide biosynthetic process
GO:0006730	one-carbon metabolic process
GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0009086	methionine biosynthetic process
GO:0009396	folic acid-containing compound biosynthetic process
GO:0035999	tetrahydrofolate interconversion
GO:0044281	small molecule metabolic process
GO:0046655	folic acid metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005739	mitochondrion
GO:0005829	cytosol
GO:0016020	membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000559 Formate-tetrahydrofolate ligase, FTHFS
IPR000672 Tetrahydrofolate dehydrogenase/cyclohydrolase
IPR020630 Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
IPR020631 Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF01268
PF00763
PF02882

PRINTS

PR00085

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P11586