ENSMUSG00000029009


Mus musculus

Features
Gene ID: ENSMUSG00000029009
  
Biological name :Mthfr
  
Synonyms : Methylenetetrahydrofolate reductase / Mthfr / Q9WU20
  
Possible biological names infered from orthology : P42898
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: E2
Gene start: 148039077
Gene end: 148059551
  
Corresponding Affymetrix probe sets: 10510270 (MoGene1.0st)   10522744 (MoGene1.0st)   1422132_at (Mouse Genome 430 2.0 Array)   1434087_at (Mouse Genome 430 2.0 Array)   1450498_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000069774
Ensembl peptide - ENSMUSP00000116239
Ensembl peptide - ENSMUSP00000116840
Ensembl peptide - ENSMUSP00000117095
Ensembl peptide - ENSMUSP00000095395
NCBI entrez gene - 17769     See in Manteia.
MGI - MGI:106639
RefSeq - XM_006538622
RefSeq - NM_001161798
RefSeq - NM_010840
RefSeq - XM_006538617
RefSeq - XM_006538618
RefSeq - XM_006538619
RefSeq - XM_006538620
RefSeq - XM_006538621
RefSeq Peptide - NP_001155270
RefSeq Peptide - NP_034970
swissprot - A2A7F9
swissprot - F6Z4F8
swissprot - A2A7F7
swissprot - Q9WU20
swissprot - F7BGN3
Ensembl - ENSMUSG00000029009
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mthfrENSDARG00000053087Danio rerio
 MTHFRENSGALG00000004612Gallus gallus
 MTHFRENSG00000177000Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003171  Methylenetetrahydrofolate reductase
 IPR004621  Eukaryotic-type methylenetetrahydrofolate reductase
 IPR029041  FAD-linked oxidoreductase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0006555 methionine metabolic process IEA
 biological_processGO:0006730 one-carbon metabolic process IBA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009086 methionine biosynthetic process IMP
 biological_processGO:0031060 regulation of histone methylation IEA
 biological_processGO:0033274 response to vitamin B2 IEA
 biological_processGO:0035999 tetrahydrofolate interconversion IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0043200 response to amino acid IEA
 biological_processGO:0046500 S-adenosylmethionine metabolic process IEA
 biological_processGO:0046653 tetrahydrofolate metabolic process IEA
 biological_processGO:0050667 homocysteine metabolic process IEA
 biological_processGO:0051593 response to folic acid IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0070555 response to interleukin-1 IEA
 biological_processGO:0070829 heterochromatin maintenance IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004489 methylenetetrahydrofolate reductase (NAD(P)H) activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0044877 protein-containing complex binding IEA
 molecular_functionGO:0050660 flavin adenine dinucleotide binding IEA
 molecular_functionGO:0050661 NADP binding IEA
 molecular_functionGO:0072341 modified amino acid binding IEA


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

 MP:0000585 kinked tail "a sharp bend or zig-zag in the tail" [J:61295]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

 MP:0000592 short tail "reduced length of tail compared to control " [J:55583]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

 MP:0000884 delaminated Purkinje cell layer "splitting or disorganization of the layer of large neuron cell bodies between the molecular and granular layers of the cerebellum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61509]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

 MP:0000886 abnormal cerebellar granule layer "any malformation or absence of the innermost cortical layer of the cerebellum; contains densly packed small neurons, mostly granule cells with some Golgi cells are found at the outer border" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

 MP:0001938 delayed sexual maturation "immaturity of the sexual organs at a given age" [J:61190]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

Allelic Composition: Mthfrtm1Rzn/Mthfr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c

 MP:0002750 exophthalmos "protrusion of one or both eyeballs" [J:47965, il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

 MP:0006076 abnormal circulating homocysteine level "aberrant concentration in the blood of this amino acid" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:NCBI request]
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Allelic Composition: Dxmod/Dxmod,Prkdcdxnph/Prkdcdxnph
Genetic Background: involves: BALB/cJ * 129X1/SvJ

Allelic Composition: Mthfrtm1Rzn/Mthfr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c

Allelic Composition: Mthfrtm1Rzn/Mthfrtm1Rzn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl

Allelic Composition: Mthfrtm1Rzn/Mthfr+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl

 MP:0009642 abnormal blood homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mthfrtm1Rzn/Mthfrtm1Rzn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000029009 Mthfr / Q9WU20 / Methylenetetrahydrofolate reductase / P42898*  / complex






 

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