ENSMUSG00000021048


Mus musculus

Features
Gene ID: ENSMUSG00000021048
  
Biological name :Mthfd1
  
Synonyms : methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase / Mthfd1 / Q922D8
  
Possible biological names infered from orthology : methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 / P11586
  
Species: Mus musculus
  
Chr. number: 12
Strand: 1
Band: C3
Gene start: 76255298
Gene end: 76319803
  
Corresponding Affymetrix probe sets: 10396610 (MoGene1.0st)   1415916_a_at (Mouse Genome 430 2.0 Array)   1415917_at (Mouse Genome 430 2.0 Array)   1436704_x_at (Mouse Genome 430 2.0 Array)   1440554_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000021443
Ensembl peptide - ENSMUSP00000151668
Ensembl peptide - ENSMUSP00000151500
NCBI entrez gene - 108156     See in Manteia.
MGI - MGI:1342005
RefSeq - NM_138745
RefSeq Peptide - NP_620084
swissprot - A0A1W2P7L5
swissprot - A0A1W2P733
swissprot - Q922D8
Ensembl - ENSMUSG00000021048
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mthfd1aENSDARG00000018266Danio rerio
 mthfd1bENSDARG00000040492Danio rerio
 MTHFD1ENSGALG00000011797Gallus gallus
 MTHFD1ENSG00000100714Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q3V3R1 / Mthfd1l / methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like / Q6UB35*ENSMUSG0000004067559


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 IMP
 biological_processGO:0001843 neural tube closure IMP
 biological_processGO:0006164 purine nucleotide biosynthetic process IMP
 biological_processGO:0006555 methionine metabolic process IMP
 biological_processGO:0006730 one-carbon metabolic process ISO
 biological_processGO:0007507 heart development IMP
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0008652 cellular amino acid biosynthetic process IEA
 biological_processGO:0009069 serine family amino acid metabolic process IMP
 biological_processGO:0009070 serine family amino acid biosynthetic process IEA
 biological_processGO:0009086 methionine biosynthetic process ISO
 biological_processGO:0009113 purine nucleobase biosynthetic process IBA
 biological_processGO:0009257 10-formyltetrahydrofolate biosynthetic process IMP
 biological_processGO:0019346 transsulfuration IMP
 biological_processGO:0035999 tetrahydrofolate interconversion IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0061053 somite development IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005829 cytosol IEA
 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 IBA
 molecular_functionGO:0004487 methylenetetrahydrofolate dehydrogenase (NAD+) activity IDA
 molecular_functionGO:0004488 methylenetetrahydrofolate dehydrogenase (NADP+) activity IEA
 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
 MP:0000221 decreased WBC count "fewer than normal numbers of WBCs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Mthfd1tm1.1Rzn/Mthfd1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N

 MP:0000222 decreased neutrophil count "fewer than normal neutrophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mthfd1tm1.1Rzn/Mthfd1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

 MP:0000930 wavy neural tube "undulations in the embryonic neural tube" [J:37888]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Il6sttm1Ern/Il6sttm1Wme,Tg(Alb1-cre)7Gsc/?
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * FVB/N

Allelic Composition: Mthfd1tm1.1Rzn/Mthfd1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N

 MP:0001415 increased exploration in new environment "greater amount of time spent investigating new location" [J:28825]
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Allelic Composition: Fgf3tm4b(EUCOMM)Hmgu/Fgf3tm4b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Fgf3tm4b(EUCOMM)Hmgu/Bay

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

 MP:0002861 abnormal tail bud morphology "anomalous formation of the primordial region of the embryo that arises to form the tail of the adult; appears approximately ten days following conception as a short stump, and then initiates elongation and thinning in normal development" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

 MP:0003400 kinked neural tube "twists or kinks in the embryonic neural tube" [J:66514, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

 MP:0003718 maternal effect "expression of a phenotypic trait in an female animal s offspring that is dependent on the maternal genotype" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mthfd1tm1.1Rzn/Mthfd1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N

 MP:0003720 abnormal neural tube closure "abnormal invagination and fusion of the neuroepithelial layer in early development" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:99099]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

 MP:0003806 abnormal nucleotide metabolism "impaired regulation of nucleotide levels in either production or breakdown of these structural components of nucleic acids" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Il6sttm1Ern/Il6sttm1Wme,Tg(Alb1-cre)7Gsc/?
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * FVB/N

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

 MP:0005319 abnormal enzyme/ coenzyme level "altered concentration of any of these proteins, or their cofactors, that act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Il6sttm1Ern/Il6sttm1Wme,Tg(Alb1-cre)7Gsc/?
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * FVB/N

 MP:0005332 abnormal amino acid level "aberrant concentration of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Il6sttm1Ern/Il6sttm1Wme,Tg(Alb1-cre)7Gsc/?
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * FVB/N

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mthfd1tm1.1Rzn/Mthfd1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N

 MP:0006386 absent somites "missing all somites" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

 MP:0009768 impaired somite development "atypical process of somite formation with the result of fewer or none of these cell masses being formed" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Il6sttm1Ern/Il6sttm1Wme,Tg(Alb1-cre)7Gsc/?
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * FVB/N

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

Allelic Composition: Mthfd1tm2b(KOMP)Wtsi/Mthfd1tm2b(KOMP)Wtsi
Genetic Background: C57BL/6N-Mthfd1tm2b(KOMP)Wtsi/Bay

 MP:0011230 abnormal folic acid level "any anomaly in the concentration of the vitamin B family member that stimulates the hematopoietic system, is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses, and is used in the treatment and prevention of folate deficiencies and megaloblastic anemia" [MESH:D03.438.733.631.400]
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Allelic Composition: Mthfd1tm1.1Rzn/Mthfd1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N

 MP:0012062 small tail bud "decreased size or area of the primordial region of the embryo that arises to form the tail of the adult" [MGI:anna]
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Allelic Composition: Foxn1nu/Foxn1nu,Msx2tm1Rilm/Msx2tm1Rilm
Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021048 Mthfd1 / Q922D8 / methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase / P11586* / methylenetetrahydrofolate d...  / complex






 

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