• Gene id: 25902

Gene Summary

• Gene Symbol: MTHFD1L   Gene   UCSC   Ensembl
• Aliases: FTHFSDC1, MTC1THFS, dJ292B18.2
• Gene name: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
• Alternate names: monofunctional C1-tetrahydrofolate synthase, mitochondrial, 10-formyl-THF synthetase, formyltetrahydrofolate synthetase domain containing 1,
• Gene location: 6q25.1 (65534805: 65512581)     Exons: 16     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript
• OMIM: 611427

Protein Summary

• Protein general information: Q6UB35  
  • Name: Monofunctional C1 tetrahydrofolate synthase, mitochondrial (EC 6.3.4.3) (Formyltetrahydrofolate synthetase)
  • Length: 978  
  • Mass: 105790
  • Tissue specificity: Detected in most tissues, highest expression found in placenta, thymus and brain. Low expression is found in liver and skeletal muscle. Up-regulated in colon adenocarcinoma. {ECO
• Sequence:

  MGTRLPLVLRQLRRPPQPPGPPRRLRVPCRASSGGGGGGGGGREGLLGQRRPQDGQARSSCSPGGRTPAARDSIV
  REVIQNSKEVLSLLQEKNPAFKPVLAIIQAGDDNLMQEINQNLAEEAGLNITHICLPPDSSEAEIIDEILKINED
  TRVHGLALQISENLFSNKVLNALKPEKDVDGVTDINLGKLVRGDAHECFVSPVAKAVIELLEKSGVNLDGKKILV
  VGAHGSLEAALQCLFQRKGSMTMSIQWKTRQLQSKLHEADIVVLGSPKPEEIPLTWIQPGTTVLNCSHDFLSGKV
  GCGSPRIHFGGLIEEDDVILLAAALRIQNMVSSGRRWLREQQHRRWRLHCLKLQPLSPVPSDIEISRGQTPKAVD
  VLAKEIGLLADEIEIYGKSKAKVRLSVLERLKDQADGKYVLVAGITPTPLGEGKSTVTIGLVQALTAHLNVNSFA
  CLRQPSQGPTFGVKGGAAGGGYAQVIPMEEFNLHLTGDIHAITAANNLLAAAIDTRILHENTQTDKALYNRLVPL
  VNGVREFSEIQLARLKKLGINKTDPSTLTEEEVSKFARLDIDPSTITWQRVLDTNDRFLRKITIGQGNTEKGHYR
  QAQFDIAVASEIMAVLALTDSLADMKARLGRMVVASDKSGQPVTADDLGVTGALTVLMKDAIKPNLMQTLEGTPV
  FVHAGPFANIAHGNSSVLADKIALKLVGEEGFVVTEAGFGADIGMEKFFNIKCRASGLVPNVVVLVATVRALKMH
  GGGPSVTAGVPLKKEYTEENIQLVADGCCNLQKQIQITQLFGVPVVVALNVFKTDTRAEIDLVCELAKRAGAFDA
  VPCYHWSVGGKGSVDLARAVREAASKRSRFQFLYDVQVPIVDKIRTIAQAVYGAKDIELSPEAQAKIDRYTQQGF
  GNLPICMAKTHLSLSHQPDKKGVPRDFILPISDVRASIGAGFIYPLVGTMSTMPGLPTRPCFYDIDLDTETEQVK
  GLF

• Structural information:
  • Interpro: IPR000559  IPR020628  IPR036291  IPR027417  IPR000672   IPR020630  IPR020631  
  • Prosite: PS00721 PS00722
  • STRING: ENSP00000478253
• Other Databases: GeneCards:  MTHFD1L  Malacards:  MTHFD1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009257	10-formyltetrahydrofolate biosynthetic process	IBA	biological process
GO:0004329	formate-tetrahydrofolate ligase activity	IBA	molecular function
GO:0009113	purine nucleobase biosynthetic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0004329	formate-tetrahydrofolate ligase activity	IEA	molecular function
GO:0004488	methylenetetrahydrofolate dehydrogenase (NADP+) activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004329	formate-tetrahydrofolate ligase activity	IEA	molecular function
GO:0046655	folic acid metabolic process	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0004329	formate-tetrahydrofolate ligase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0048702	embryonic neurocranium morphogenesis	ISS	biological process
GO:0048703	embryonic viscerocranium morphogenesis	ISS	biological process
GO:0001843	neural tube closure	ISS	biological process
GO:0009257	10-formyltetrahydrofolate biosynthetic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0006760	folic acid-containing compound metabolic process	IDA	biological process
GO:0015942	formate metabolic process	IDA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0035999	tetrahydrofolate interconversion	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Neural tube defect	PMID:19777576
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq