ENSG00000100714


Homo sapiens

Features
Gene ID: ENSG00000100714
  
Biological name :MTHFD1
  
Synonyms : methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 / MTHFD1 / P11586
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q23.3
Gene start: 64388031
Gene end: 64463457
  
Corresponding Affymetrix probe sets: 202309_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000477359
Ensembl peptide - ENSP00000477501
Ensembl peptide - ENSP00000216605
Ensembl peptide - ENSP00000438588
Ensembl peptide - ENSP00000450560
Ensembl peptide - ENSP00000476468
Ensembl peptide - ENSP00000477199
NCBI entrez gene - 4522     See in Manteia.
OMIM - 172460
RefSeq - NM_005956
RefSeq Peptide - NP_005947
swissprot - V9GY75
swissprot - V9GYY3
swissprot - V9GZ32
swissprot - F5H2F4
swissprot - V9GZ78
swissprot - P11586
Ensembl - ENSG00000100714
  
Related genetic diseases (OMIM): 601634 - {Neural tube defects, folate-sensitive, susceptibility to}, 601634
  617780 - Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mthfd1aENSDARG00000018266Danio rerio
 mthfd1bENSDARG00000040492Danio rerio
 MTHFD1ENSGALG00000011797Gallus gallus
 Mthfd1ENSMUSG00000021048Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q6UB35 / MTHFD1L / methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 likeENSG0000012025460


Protein motifs (from Interpro)
Interpro ID Name
 IPR000559  Formate-tetrahydrofolate ligase, FTHFS
 IPR000672  Tetrahydrofolate dehydrogenase/cyclohydrolase
 IPR020628  Formate-tetrahydrofolate ligase, FTHFS, conserved site
 IPR020630  Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
 IPR020631  Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
 IPR020867  Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000105 histidine biosynthetic process IEA
 biological_processGO:0001780 neutrophil homeostasis IEA
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0006164 purine nucleotide biosynthetic process ISS
 biological_processGO:0006555 methionine metabolic process IEA
 biological_processGO:0006730 one-carbon metabolic process IMP
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0008652 cellular amino acid biosynthetic process IEA
 biological_processGO:0009069 serine family amino acid metabolic process IEA
 biological_processGO:0009070 serine family amino acid biosynthetic process IMP
 biological_processGO:0009086 methionine biosynthetic process IMP
 biological_processGO:0009113 purine nucleobase biosynthetic process IBA
 biological_processGO:0009257 10-formyltetrahydrofolate biosynthetic process IEA
 biological_processGO:0019346 transsulfuration IEA
 biological_processGO:0035999 tetrahydrofolate interconversion ISS
 biological_processGO:0046655 folic acid metabolic process TAS
 biological_processGO:0048702 embryonic neurocranium morphogenesis ISS
 biological_processGO:0048703 embryonic viscerocranium morphogenesis ISS
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0061053 somite development IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004329 formate-tetrahydrofolate ligase activity IEA
 molecular_functionGO:0004477 methenyltetrahydrofolate cyclohydrolase activity TAS
 molecular_functionGO:0004486 methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity TAS
 molecular_functionGO:0004487 methylenetetrahydrofolate dehydrogenase (NAD+) activity IEA
 molecular_functionGO:0004488 methylenetetrahydrofolate dehydrogenase (NADP+) activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016874 ligase activity IEA


Pathways (from Reactome)
Pathway description
Metabolism of folate and pterines


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100714 MTHFD1 / P11586 / methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1  / complex






 

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