Homo sapiens Protein: MTHFD1L
Summary
InnateDB Protein IDBP-97927.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MTHFD1L
Protein Name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
Synonyms dJ292B18.2; FTHFSDC1; MTC1THFS;
Species Homo sapiens
Ensembl Protein ENSP00000356276
InnateDB Gene IDBG-97919 (MTHFD1L)
Protein Structure
UniProt Annotation
Function May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2. {ECO:0000250}.
Subcellular Localization Mitochondrion {ECO:0000269PubMed:12937168}.
Disease Associations
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:0000269PubMed:12937168, ECO:0000269PubMed:15013446}.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR000672 Tetrahydrofolate dehydrogenase/cyclohydrolase
IPR020630 Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
IPR020631 Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
PFAM PF00763
PF02882
PRINTS PR00085
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6UB35
PhosphoSite PhosphoSite-Q6UB35
TrEMBL Q5JYA4
UniProt Splice Variant
Entrez Gene 25902
UniGene
RefSeq NP_001229698
HUGO HGNC:21055
OMIM 611427
CCDS CCDS56457
HPRD 09967
IMGT
EMBL AB127387 AK024798 AL035086 AL049694 AL117452 AL133260 AY374130 AY374131 BC008629 BC017477 BC110319 CH471051
GenPept AAH08629 AAH17477 AAI10320 AAQ82696 AAQ82697 BAB15009 BAD93193 CAB55934 CAI42794 CAI95678 CAI95774 EAW47762