ENSMUSG00000040675


Mus musculus

Features
Gene ID: ENSMUSG00000040675
  
Biological name :Mthfd1l
  
Synonyms : methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like / Mthfd1l / Q3V3R1
  
Possible biological names infered from orthology : Q6UB35
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: A1
Gene start: 3973118
Gene end: 4167081
  
Corresponding Affymetrix probe sets: 10367641 (MoGene1.0st)   1456653_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000036178
Ensembl peptide - ENSMUSP00000112870
Ensembl peptide - ENSMUSP00000112897
NCBI entrez gene - 270685     See in Manteia.
MGI - MGI:1924836
RefSeq - XM_006512449
RefSeq - NM_001170785
RefSeq - NM_001170786
RefSeq - NM_172308
RefSeq Peptide - NP_001164257
RefSeq Peptide - NP_758512
RefSeq Peptide - NP_001164256
swissprot - Q3V3R1
Ensembl - ENSMUSG00000040675
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mthfd1lENSDARG00000042221Danio rerio
 MTHFD1LENSGALG00000012412Gallus gallus
 Q6UB35ENSG00000120254Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mthfd1 / Q922D8 / methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase / P11586* / methylenetetrahydrofolate d...ENSMUSG0000002104857


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 IMP
 biological_processGO:0006730 one-carbon metabolic process IEA
 biological_processGO:0006760 folic acid-containing compound metabolic process ISO
 biological_processGO:0009113 purine nucleobase biosynthetic process IBA
 biological_processGO:0009257 10-formyltetrahydrofolate biosynthetic process ISO
 biological_processGO:0015942 formate metabolic process ISO
 biological_processGO:0035999 tetrahydrofolate interconversion IEA
 biological_processGO:0046653 tetrahydrofolate metabolic process ISO
 biological_processGO:0048702 embryonic neurocranium morphogenesis IMP
 biological_processGO:0048703 embryonic viscerocranium morphogenesis IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005739 mitochondrion ISO
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004329 formate-tetrahydrofolate ligase activity ISO
 molecular_functionGO:0004477 methenyltetrahydrofolate cyclohydrolase activity IBA
 molecular_functionGO:0004488 methylenetetrahydrofolate dehydrogenase (NADP+) activity IBA
 molecular_functionGO:0005524 ATP binding ISO
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity ISO


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000432 abnormal head morphology "anomalous structure or development of the portion of the body containing the brain and organs of sight, hearing, taste, and smell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000433 microcephaly "an abnormally small head" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000930 wavy neural tube "undulations in the embryonic neural tube" [J:37888]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001700 abnormal embryo turning "atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (Mus:E8.5-E9.5) such that the curvature of the entire trunk region is reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0006337 abnormal first branchial arch morphology "anomaly in the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel s cartilage, trigeminal nerve, and maxillary artery" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008762 embryonic lethality "death of an animal in the embryonic period (Mus: up to E14)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008784 craniorachischisis "congenital fissure of the skull and vertebral column" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0010939 abnormal mandibular prominence morphology 
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0010940 abnormal maxillary prominence morphology 
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 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]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011495 abnormal head shape "any anomaly in the characteristic surface outline or contour of a head of an organism" [MGI:csmith]
Show

Allelic Composition: Adcy7tm1.1Pcst/Adcy7tm1.1Pcst,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000040675 Q3V3R1 / Mthfd1l / methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like / Q6UB35*  / complex






 

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