InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DHFR

Summary

InnateDB Protein

IDBP-372684.4

Last Modified

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

Gene Symbol

DHFR

Protein Name

dihydrofolate reductase

Synonyms

DHFRP1; DYR;

Species

Homo sapiens

Ensembl Protein

ENSP00000396308

InnateDB Gene

IDBG-302986 (DHFR)

Protein Structure

UniProt Annotation

Function

Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFRL1. {ECO:0000269PubMed:12096917, ECO:0000269PubMed:21876188}.

Subcellular Localization

Disease Associations

Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]: An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms. {ECO:0000269PubMed:21310276, ECO:0000269PubMed:21310277}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed in fetal and adult tissues, including throughout the fetal and adult brains and whole blood. Expression is higher in the adult brain than in the fetal brain. {ECO:0000269PubMed:21310276}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.

Experimentally validated
Total	16 [view]
Protein-Protein	12 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003729	mRNA binding
GO:0004146	dihydrofolate reductase activity
GO:0008144	drug binding
GO:0050661	NADP binding

Biological Process

GO:0000082	G1/S transition of mitotic cell cycle
GO:0000083	regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
GO:0006545	glycine biosynthetic process
GO:0006730	one-carbon metabolic process
GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0009165	nucleotide biosynthetic process
GO:0031427	response to methotrexate
GO:0044281	small molecule metabolic process
GO:0046209	nitric oxide metabolic process
GO:0046653	tetrahydrofolate metabolic process
GO:0046654	tetrahydrofolate biosynthetic process
GO:0046655	folic acid metabolic process
GO:0050999	regulation of nitric-oxide synthase activity
GO:0055114	oxidation-reduction process