Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

DHFR

contributors: mct - updated : 18-03-2011

HGNC name	dihydrofolate reductase
HGNC id	2861

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DHFRD dehydrofolate deficiency
Location	5q14.1      Physical location : 79.922.044 - 79.950.800
EC.number	1.5.1.3

DNA

TYPE	functioning gene
STRUCTURE	28.75 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence
text structure	cis-acting regulatory element in the protein-coding region , mediating RNA-protein interactions

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000791 6 - 3932 - 187 - 2004 14664697

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive intestine large intestine colon   highly Lymphoid/Immune lymph node       highly   thymus       highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

cell cycle

cell cycle, S

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to Drosophila Dhfr
	homolog to C.elegans C36B1.7
	ortholog to murine Dhfr

Homologene

FAMILY

dihydrofolate reductase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	converting dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid and certain amino acids
	catalyzes the NADPH-dependent reduction of dihydrofolate to tetrahydrofolate, an essential step in the synthesis of precursors of DNA, including glycine and purines, and the conversion of deoxyuridine monophosphate to deoxythymidine monophosphate
	modulator of beta-catenin and GSK3 signaling
	necessary for maintaining sufficient cerebrospinal fluid and red blood cells folate levels, even in the presence of adequate nutritional folate supply and normal plasma folate
	plays a key role in maintaining intracellular folate homeostasis and is an important target for cytostatic drugs

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

nucleic , aminoacid , purine/pyrimidine , vitamin

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	NADP

protein

interacting with MDM2 (ability of MDM2 to inhibit DHFR activity depends upon an intact MDM2 RING finger)

cell & other

REGULATION

activated by

upregulated MYC target gene

repressed by

HOA repressed the expression of dihydrofolate reductase (DHFR), the enzyme responsible for tetrahydrofolate (THF) synthesis

ASSOCIATED DISORDERS

corresponding disease(s)

DHFRD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     polymorphism in intron 1 significantly more frequent in mother with foetus spina bifida constitutional   deletion     associated with increased unmetabolized folic acid in plasma and decreased red blood cell folate

Susceptibility

to spina bifida to intracranial aneurysms

Variant & Polymorphism other	polymorphisms are possible risk factors for the formation of intracranial aneurysms

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     critical target in cancer chemotherapy

ANIMAL & CELL MODELS