• Gene id: 10588

Gene Summary

• Gene Symbol: MTHFS   Gene   UCSC   Ensembl
• Aliases: HsT19268, NEDMEHM
• Gene name: methenyltetrahydrofolate synthetase
• Alternate names: 5-formyltetrahydrofolate cyclo-ligase, 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase), methenyl-THF synthetase,
• Gene location: 15q25.1 (79897284: 79843546)     Exons: 4     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can resu
• OMIM: 604197

Protein Summary

• Protein general information: P49914  
  • Name: 5 formyltetrahydrofolate cyclo ligase (EC 6.3.3.2) (5,10 methenyl tetrahydrofolate synthetase) (MTHFS) (Methenyl THF synthetase)
  • Length: 203  
  • Mass: 23256
• Sequence:

  MAAAAVSSAKRSLRGELKQRLRAMSAEERLRQSRVLSQKVIAHSEYQKSKRISIFLSMQDEIETEEIIKDIFQRG
  KICFIPRYRFQSNHMDMVRIESPEEISLLPKTSWNIPQPGEGDVREEALSTGGLDLIFMPGLGFDKHGNRLGRGK
  GYYDAYLKRCLQHQEVKPYTLALAFKEQICLQVPVNENDMKVDEVLYEDSSTA

• Structural information:
  • Interpro: IPR002698  IPR024185  IPR037171  
  • PDB: 3HXT 3HY3 3HY4 3HY6
  • PDBsum: 3HXT 3HY3 3HY4 3HY6
  • STRING: ENSP00000258874
• Other Databases: GeneCards:  MTHFS  Malacards:  MTHFS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009396	folic acid-containing compound biosynthetic process	IBA	biological process
GO:0035999	tetrahydrofolate interconversion	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0030272	5-formyltetrahydrofolate cyclo-ligase activity	IBA	molecular function
GO:0046653	tetrahydrofolate metabolic process	IDA	biological process
GO:0030272	5-formyltetrahydrofolate cyclo-ligase activity	IDA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005542	folic acid binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030272	5-formyltetrahydrofolate cyclo-ligase activity	IEA	molecular function
GO:0030272	5-formyltetrahydrofolate cyclo-ligase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0046655	folic acid metabolic process	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0030272	5-formyltetrahydrofolate cyclo-ligase activity	IDA	molecular function
GO:0005542	folic acid binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0006536	glutamate metabolic process	IMP	biological process
GO:0005542	folic acid binding	IDA	molecular function
GO:0046653	tetrahydrofolate metabolic process	IDA	biological process
GO:0030272	5-formyltetrahydrofolate cyclo-ligase activity	IMP	molecular function
GO:0046657	folic acid catabolic process	IMP	biological process
GO:0035999	tetrahydrofolate interconversion	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030272	5-formyltetrahydrofolate cyclo-ligase activity	NAS	molecular function
GO:0015942	formate metabolic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq