• Gene id: 1719

Gene Summary

• Gene Symbol: DHFR   Gene   UCSC   Ensembl
• Aliases: DHFRP1, DYR
• Gene name: dihydrofolate reductase
• Alternate names: dihydrofolate reductase,
• Gene location: 5q14.1 (80654982: 80626225)     Exons: 3     NC_000005.10
• Gene summary(Entrez): Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chro
• OMIM: 126060

Protein Summary

• Protein general information: P00374  
  • Name: Dihydrofolate reductase (EC 1.5.1.3)
  • Length: 187  
  • Mass: 21453
  • 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
• Sequence:

  MVGSLNCIVAVSQNMGIGKNGDLPWPPLRNEFRYFQRMTTTSSVEGKQNLVIMGKKTWFSIPEKNRPLKGRINLV
  LSRELKEPPQGAHFLSRSLDDALKLTEQPELANKVDMVWIVGGSSVYKEAMNHPGHLKLFVTRIMQDFESDTFFP
  EIDLEKYKLLPEYPGVLSDVQEEKGIKYKFEVYEKND

• Structural information:
  • Protein Domains: (4..18-)
    (/note="DHFR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00660"-)
  • Interpro: IPR024072  IPR017925  IPR001796  
  • Prosite: PS00075 PS51330
  • CDD: cd00209
  • PDB: 1BOZ 1DHF 1DLR 1DLS 1DRF 1HFP 1HFQ 1HFR 1KMS 1KMV 1MVS 1MVT 1OHJ 1OHK 1PD8 1PD9 1PDB 1S3U 1S3V 1S3W 1U71 1U72 1YHO 2C2S 2C2T 2DHF 2W3A 2W3B 2W3M 3EIG 3F8Y 3F8Z 3F91 3FS6 3GHC 3GHV 3GHW 3GI2 3GYF 3L3R 3N0H 3NTZ 3NU0 3NXO 3NXR 3NXT 3NXV 3NXX 3NXY 3NZD 3OAF 3S3V 3S7A 4DDR 4G95 4KAK 4KBN 4KD7 4KEB 4KFJ 4M6J 4M6K 4M6L 4QH
  • PDBsum: 1BOZ 1DHF 1DLR 1DLS 1DRF 1HFP 1HFQ 1HFR 1KMS 1KMV 1MVS 1MVT 1OHJ 1OHK 1PD8 1PD9 1PDB 1S3U 1S3V 1S3W 1U71 1U72 1YHO 2C2S 2C2T 2DHF 2W3A 2W3B 2W3M 3EIG 3F8Y 3F8Z 3F91 3FS6 3GHC 3GHV 3GHW 3GI2 3GYF 3L3R 3N0H 3NTZ 3NU0 3NXO 3NXR 3NXT 3NXV 3NXX 3NXY 3NZD 3OAF 3S3V 3S7A 4DDR 4G95 4KAK 4KBN 4KD7 4KEB 4KFJ 4M6J 4M6K 4M6L 4QH
  • STRING: ENSP00000396308
• Other Databases: GeneCards:  DHFR  Malacards:  DHFR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0004146	dihydrofolate reductase activity	IBA	molecular function
GO:0046452	dihydrofolate metabolic process	IBA	biological process
GO:0046654	tetrahydrofolate biosynthetic process	IBA	biological process
GO:0046655	folic acid metabolic process	IBA	biological process
GO:0050661	NADP binding	IBA	molecular function
GO:0046653	tetrahydrofolate metabolic process	IDA	biological process
GO:0046653	tetrahydrofolate metabolic process	IDA	biological process
GO:0004146	dihydrofolate reductase activity	IDA	molecular function
GO:0004146	dihydrofolate reductase activity	IDA	molecular function
GO:0003729	mRNA binding	IDA	molecular function
GO:0008144	drug binding	IDA	molecular function
GO:0008144	drug binding	IDA	molecular function
GO:0004146	dihydrofolate reductase activity	IEA	molecular function
GO:0046654	tetrahydrofolate biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0031427	response to methotrexate	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004146	dihydrofolate reductase activity	IEA	molecular function
GO:0000083	regulation of transcription involved in G1/S transition of mitotic cell cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0046655	folic acid metabolic process	TAS	biological process
GO:0070402	NADPH binding	IDA	molecular function
GO:0005542	folic acid binding	IDA	molecular function
GO:0046452	dihydrofolate metabolic process	IDA	biological process
GO:0004146	dihydrofolate reductase activity	IDA	molecular function
GO:0051870	methotrexate binding	IDA	molecular function
GO:0046654	tetrahydrofolate biosynthetic process	IDA	biological process
GO:0046452	dihydrofolate metabolic process	IDA	biological process
GO:2000121	regulation of removal of superoxide radicals	ISS	biological process
GO:0004146	dihydrofolate reductase activity	IDA	molecular function
GO:0004146	dihydrofolate reductase activity	ISS	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0046655	folic acid metabolic process	ISS	biological process
GO:0006729	tetrahydrobiopterin biosynthetic process	IMP	biological process
GO:0006729	tetrahydrobiopterin biosynthetic process	ISS	biological process
GO:0031103	axon regeneration	ISS	biological process
GO:0031427	response to methotrexate	ISS	biological process
GO:0051000	positive regulation of nitric-oxide synthase activity	ISS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0046654	tetrahydrofolate biosynthetic process	IEA	biological process
GO:0000900	translation repressor activity, mRNA regulatory element binding	IDA	molecular function
GO:0017148	negative regulation of translation	IDA	biological process
GO:1990825	sequence-specific mRNA binding	IDA	molecular function
GO:0004146	dihydrofolate reductase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00790	Folate biosynthesis
hsa01523	Antifolate resistance
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
Dihydrofolate reductase deficiency	KEGG:H01197
Dihydrofolate reductase deficiency	KEGG:H01197
acute lymphocytic leukemia	PMID:9226157
acute lymphocytic leukemia	PMID:12972803
acute lymphocytic leukemia	PMID:22969948
acute lymphocytic leukemia	PMID:19861437
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881