ENSG00000120254


Homo sapiens

Features
Gene ID: ENSG00000120254
  
Biological name :MTHFD1L
  
Synonyms : methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like / MTHFD1L / Q6UB35
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q25.1
Gene start: 150865549
Gene end: 151101887
  
Corresponding Affymetrix probe sets: 1561125_at (Human Genome U133 Plus 2.0 Array)   225518_x_at (Human Genome U133 Plus 2.0 Array)   225520_at (Human Genome U133 Plus 2.0 Array)   231094_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000407070
Ensembl peptide - ENSP00000400776
Ensembl peptide - ENSP00000478253
Ensembl peptide - ENSP00000479539
Ensembl peptide - ENSP00000356276
Ensembl peptide - ENSP00000356277
Ensembl peptide - ENSP00000356290
Ensembl peptide - ENSP00000391022
Ensembl peptide - ENSP00000395158
Ensembl peptide - ENSP00000399804
NCBI entrez gene - 25902     See in Manteia.
OMIM - 611427
RefSeq - XM_017010708
RefSeq - XM_005266910
RefSeq - XM_005266911
RefSeq - XM_011535729
RefSeq - XM_011535730
RefSeq - XM_011535731
RefSeq - XM_011535732
RefSeq - XM_011535733
RefSeq - XM_011535734
RefSeq - XM_011535737
RefSeq - XM_011535738
RefSeq - XM_017010702
RefSeq - XM_017010703
RefSeq - XM_017010704
RefSeq - XM_017010705
RefSeq - XM_017010706
RefSeq - XM_017010707
RefSeq - NM_001242767
RefSeq - NM_001242768
RefSeq - NM_001242769
RefSeq - NM_001350486
RefSeq - NM_001350488
RefSeq - NM_001350493
RefSeq - NM_015440
RefSeq - XM_005266907
RefSeq Peptide - NP_001229696
RefSeq Peptide - NP_001229697
RefSeq Peptide - NP_001229698
RefSeq Peptide - NP_001337415
RefSeq Peptide - NP_001337417
RefSeq Peptide - NP_001337422
RefSeq Peptide - NP_056255
swissprot - Q6UB35
swissprot - B7ZM99
swissprot - A0A087WVM4
swissprot - H0Y327
swissprot - Q4VXM0
swissprot - Q4VXM1
swissprot - Q4VXV2
swissprot - Q5JYA3
swissprot - Q5JYA8
Ensembl - ENSG00000120254
  
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
 mthfd1lENSDARG00000042221Danio rerio
 MTHFD1LENSGALG00000012412Gallus gallus
 Q3V3R1ENSMUSG00000040675Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MTHFD1 / P11586 / methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1ENSG0000010071458


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
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0006730 one-carbon metabolic process IEA
 biological_processGO:0006760 folic acid-containing compound metabolic process IDA
 biological_processGO:0009113 purine nucleobase biosynthetic process IBA
 biological_processGO:0009257 10-formyltetrahydrofolate biosynthetic process IBA
 biological_processGO:0015942 formate metabolic process IDA
 biological_processGO:0035999 tetrahydrofolate interconversion IEA
 biological_processGO:0046653 tetrahydrofolate metabolic process IDA
 biological_processGO:0046655 folic acid metabolic process TAS
 biological_processGO:0048702 embryonic neurocranium morphogenesis IEA
 biological_processGO:0048703 embryonic viscerocranium morphogenesis IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0016020 membrane HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004329 formate-tetrahydrofolate ligase activity IEA
 molecular_functionGO:0004477 methenyltetrahydrofolate cyclohydrolase activity IBA
 molecular_functionGO:0004488 methylenetetrahydrofolate dehydrogenase (NADP+) activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA


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
 ENSG00000120254 Q6UB35 / MTHFD1L / methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like  / complex






 

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