Homo sapiens Gene: MTHFD1L
Summary
InnateDB Gene IDBG-97919.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MTHFD1L
Gene Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
Synonyms dJ292B18.2; FTHFSDC1; MTC1THFS
Species Homo sapiens
Ensembl Gene ENSG00000120254
Encoded Proteins
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:150865549-151101887
Strand Forward strand
Band q25.1
Transcripts
ENST00000367321 ENSP00000356290
ENST00000367308 ENSP00000356277
ENST00000367307 ENSP00000356276
ENST00000441122 ENSP00000407070
ENST00000423867 ENSP00000400776
ENST00000421497
ENST00000420192 ENSP00000395158
ENST00000453602 ENSP00000391022
ENST00000450635 ENSP00000399804
ENST00000478643
ENST00000611279 ENSP00000478253
ENST00000618312 ENSP00000479539
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004329 formate-tetrahydrofolate ligase activity
GO:0004488 methylenetetrahydrofolate dehydrogenase (NADP+) activity
GO:0005524 ATP binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0006730 one-carbon metabolic process
GO:0006760 folic acid-containing compound metabolic process
GO:0009396 folic acid-containing compound biosynthetic process
GO:0015942 formate metabolic process
GO:0035999 tetrahydrofolate interconversion
GO:0046653 tetrahydrofolate metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
One carbon pool by folate pathway
INOH
Folate metabolism pathway
PID NCI
Cross-References
SwissProt Q6UB35
TrEMBL B2RD24 Q5JYA3 Q5JYA8
UniProt Splice Variant
Entrez Gene 25902
UniGene
RefSeq NM_015440 XM_005266907 NM_001242767 NM_001242768 NM_001242769 XM_003846387 XM_005266910 XM_005266911 XM_005276341 XM_006716916 XM_006726487
HUGO HGNC:21055
OMIM 611427
CCDS CCDS5228 CCDS56457 CCDS75535 CCDS75536
HPRD 09967
IMGT
EMBL AB127387 AK024798 AK315378 AL035086 AL049694 AL117452 AL133260 AY374130 AY374131 BC008629 BC017477 BC110319 CH471051
GenPept AAH08629 AAH17477 AAI10320 AAQ82696 AAQ82697 BAB15009 BAD93193 BAG37771 CAB55934 CAI42794 CAI95678 CAI95774 EAW47762
RNA Seq Atlas 100996643 101928195 102724904 25902