Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MTHFS Gene

protein-coding   GIFtS: 63
GCID: GC15M080125

5,10-Methenyltetrahydrofolate Synthetase (5-Formyltetrahydrofolate...

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
5,10-Methenyltetrahydrofolate Synthetase (5-Formyltetrahydrofolate
Cyclo-Ligase)1 2
Methenyl-THF Synthetase2 3
5-Formyltetrahydrofolate Cyclo-Ligase2
HsT192682
5,10-Methenyl-Tetrahydrofolate Synthetase3
EC 6.3.3.23

External Ids:    HGNC: 74371   Entrez Gene: 105882   Ensembl: ENSG000001363717   OMIM: 6041975   UniProtKB: P499143   

Export aliases for MTHFS gene to outside databases

Previous GC identifers: GC15M076098 GC15M073294 GC15M077713 GC15M077853 GC15M077924 GC15M080137 GC15M056895


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for MTHFS Gene:
The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to
5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased
activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three
transcript variants encoding two different isoforms have been found for this gene. (provided by RefSeq, Jun 2011)

GeneCards Summary for MTHFS Gene:
MTHFS (5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)) is a protein-coding gene. Diseases associated with MTHFS include keratoconus, and follicular lymphoma. GO annotations related to this gene include folic acid binding and 5-formyltetrahydrofolate cyclo-ligase activity. An important paralog of this gene is ST20-MTHFS.

UniProtKB/Swiss-Prot: MTHFS_HUMAN, P49914
Function: Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent
one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTHFS gene promoter:
         POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Cdc5   POU3F2   Gfi-1   CREB   c-Rel   POU2F1   deltaCREB   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTHFS promoter sequence
   Search Chromatin IP Primers for MTHFS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTHFS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q25.1   Ensembl cytogenetic band:  15q25.1   HGNC cytogenetic band: 15q24.3

MTHFS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTHFS gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M080125:  view genomic region     (about GC identifiers)

Start:
80,125,927 bp from pter      End:
80,189,721 bp from pter
Size:
63,795 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: MTHFS_HUMAN, P49914 (See protein sequence)
Recommended Name: 5-formyltetrahydrofolate cyclo-ligase  
Size: 203 amino acids; 23256 Da
Cofactor: Magnesium
Subunit: Monomer
Sequence caution: Sequence=CK002935; Type=Frameshift; Positions=178, 201;
4 PDB 3D structures from and Proteopedia for MTHFS:
3HXT (3D)        3HY3 (3D)        3HY4 (3D)        3HY6 (3D)    
Secondary accessions: H3BQ75
Alternative splicing: 2 isoforms:  P49914-1   P49914-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MTHFS: NX_P49914

Explore proteomics data for MTHFS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys10, Lys76
  • Modification sites at PhosphoSitePlus

  • See MTHFS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001186687.1  NP_006432.1  

    ENSEMBL proteins: 
     ENSP00000454318   ENSP00000258874   ENSP00000454626  

    MTHFS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MTHFS
    OriGene Protein Over-expression Lysate for MTHFS
    OriGene MassSpec for MTHFS
    OriGene Custom Protein Services for MTHFS
    GenScript Custom Purified and Recombinant Proteins Services for MTHFS
    Novus Biologicals MTHFS Proteins
    Novus Biologicals MTHFS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for MTHFS
    Cloud-Clone Corp. Proteins for MTHFS

    MTHFS Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MTHFS
    OriGene Custom Antibody Services for MTHFS
    Novus Biologicals MTHFS Antibodies
    Abcam antibodies for MTHFS
    Cloud-Clone Corp. Antibodies for MTHFS
    ThermoFisher Antibodies for MTHFS
    LSBio Antibodies in human, mouse, rat for MTHFS

    MTHFS Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MTHFS
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MTHFS
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MTHFS
    Cloud-Clone Corp. CLIAs for MTHFS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR002698 FTHF_cligase
     IPR024185 FTHF_cligase-like

    Graphical View of Domain Structure for InterPro Entry P49914

    ProtoNet protein and cluster: P49914

    1 Blocks protein domain: IPB002698 5-formyltetrahydrofolate cyclo-ligase

    UniProtKB/Swiss-Prot: MTHFS_HUMAN, P49914
    Similarity: Belongs to the 5-formyltetrahydrofolate cyclo-ligase family


    MTHFS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTHFS_HUMAN, P49914
    Function: Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent
    one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids
    Catalytic activity: ATP + 5-formyltetrahydrofolate = ADP + phosphate + 5,10-methenyltetrahydrofolate

         Genatlas biochemistry entry for MTHFS:
    5,10-methenyl tetrahydrofolate (THF) synthetase,preferentially expressed in the liver,5-formyltetrahydrofolate
    cyclo-ligase,catalyzing the obligatory initial metabolic step,in the inctracellular conversion of 5-formyl THF to
    other reduced folates

         Enzyme Number (IUBMB): EC 6.3.3.21

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0005542folic acid binding IEA--
    GO:00302725-formyltetrahydrofolate cyclo-ligase activity NAS8522195
         
    MTHFS for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mthfs):
     behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging  tumorigenesis 

    MTHFS for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTHFS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MTHFS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTHFS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MTHFS

    miRNA
    Products:
        
    miRTarBase miRNAs that target MTHFS:
    hsa-mir-26b-5p (MIRT029878), hsa-mir-1 (MIRT023879)

    Block miRNA regulation of human, mouse, rat MTHFS using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate MTHFS:
    hsa-miR-21* hsa-miR-514 hsa-miR-514b-3p
    SwitchGear 3'UTR luciferase reporter plasmidMTHFS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MTHFS
    Predesigned siRNA for gene silencing in human, mouse, rat MTHFS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MTHFS

    Clone
    Products:
         
    OriGene clones in human, mouse for MTHFS (see all 8)
    OriGene ORF clones in mouse, rat for MTHFS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MTHFS (NM_006441)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTHFS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTHFS

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MTHFS
    Browse ESI BIO Cell Lines and PureStem Progenitors for MTHFS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTHFS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MTHFS_HUMAN, P49914: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    golgi apparatus4
    plasma membrane4
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus ----
    GO:0005829cytosol ----
    GO:0005886plasma membrane ----

    MTHFS for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for MTHFS About    
    See pathways by source

    SuperPathContained pathways About
    1One carbon pool by folate
    One carbon pool by folate0.53
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics0.34
    One Carbon Metabolism0.53
    Antimetabolite Pathway - Folate Cycle, Pharmacodynamics0.00
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics0.35
    2Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MTHFS
        One Carbon Metabolism

    3 PharmGKB Pathways for MTHFS
        Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    2 Kegg Pathways  (Kegg details for MTHFS):
        One carbon pool by folate
    Metabolic pathways


    MTHFS for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MTHFS
    Interactions:

        Search GeneGlobe Interaction Network for MTHFS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for MTHFS (P499143 ENSP000002588744) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSC22D4Q9Y3Q83, ENSP000003001814I2D: score=4 STRING: ENSP00000300181
    UBCENSP000003448184STRING: ENSP00000344818
    MTHFD1ENSP000002166054STRING: ENSP00000216605
    MTHFD1LENSP000003562904STRING: ENSP00000356290
    ZC3H14ENSP000002510384STRING: ENSP00000251038
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009396folic acid-containing compound biosynthetic process IEA--
    GO:0015942formate metabolic process NAS8522195
    GO:0046653tetrahydrofolate metabolic process IDA19738041

    MTHFS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MTHFS

    7 HMDB Compounds for MTHFS    About this table
    CompoundSynonyms CAS #PubMed Ids
    5,10-Methenyltetrahydrofolic acid5,10-Methenyltetrahydrofolate (see all 13)7444-29-3--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Folic acidAcifolic (see all 37)59-30-3--
    MagnesiumMagnesium (see all 2)7439-95-4--
    N5-Formyl-THF(6R,S)-5-Formyltetrahydrofolate (see all 21)58-05-9--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    5 Novoseek inferred chemical compound relationships for MTHFS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5,10-methenyltetrahydrofolate 98.2 26 16104022 (3), 15135403 (2), 19022216 (2), 19738041 (2) (see all 15)
    leucovorin 76.7 13 16365037 (2), 9030524 (2), 15135403 (1), 8522195 (1) (see all 7)
    folate 66.3 7 7766710 (2), 15135403 (1), 19738041 (1), 16365037 (1) (see all 5)
    5-methyltetrahydrofolate 65.5 1 11520899 (1)
    atp 26.4 4 16104022 (1), 7766710 (1)



    MTHFS for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for MTHFS gene (2 alternative transcripts): 
    NM_001199758.1  NM_006441.3  

    Unigene Clusters for MTHFS:

    5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
    Hs.194294  [show with all ESTs], Hs.459049  [show with all ESTs]
    Unigene Representative Sequences: AL109717, NR_037654
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000560261 ENST00000258874(uc021srp.1 uc002bex.4 uc021srq.1 uc021srr.1)
    ENST00000560919 ENST00000559722
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MTHFS using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate MTHFS:
    hsa-miR-21* hsa-miR-514 hsa-miR-514b-3p
    SwitchGear 3'UTR luciferase reporter plasmidMTHFS 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MTHFS
    Predesigned siRNA for gene silencing in human, mouse, rat MTHFS
    Clone
    Products:
         
    OriGene clones in human, mouse for MTHFS (see all 8)
    OriGene ORF clones in mouse, rat for MTHFS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MTHFS (NM_006441)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTHFS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTHFS
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MTHFS
    OriGene qSTAR qPCR primer pairs in human, mouse for MTHFS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTHFS
      QuantiTect SYBR Green Assays in human, mouse, rat MTHFS
      QuantiFast Probe-based Assays in human, mouse, rat MTHFS

    Additional mRNA sequence: 

    AL110101.1 BC012417.1 BC019921.1 L38928.1 NR_037654.1 

    14 DOTS entries:

    DT.117581  DT.87016173  DT.437088  DT.209667  DT.92456944  DT.100027654  DT.100749995  DT.97788429 
    DT.92456953  DT.91869599  DT.80100252  DT.86996839  DT.95347218  DT.95263213 

    Selected AceView cDNA sequences (see all 307):

    AA700046 AW161062 BG939662 AI754307 BQ777753 AI674201 BM823149 CA848720 
    AA668859 AI373513 AI632437 BM831179 AW612037 AI129743 BM674537 BU077484 
    BM510737 BM769396 AI090295 AA807026 BM450865 R14575 BM830783 AL109714 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MTHFS    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
    SP1:                                          
    SP2:              -           -               
    SP3:                          -               


    ECgene alternative splicing isoforms for MTHFS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    MTHFS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGTAGATG
    MTHFS Expression
    About this image


    MTHFS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Thymus (Hematopoietic System)
             Thymus
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    MTHFS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTHFS Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.194294 Hs.459049
        Custom PCR Arrays for MTHFS
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MTHFS
    OriGene qSTAR qPCR primer pairs in human, mouse for MTHFS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTHFS
    QuantiTect SYBR Green Assays in human, mouse, rat MTHFS
    QuantiFast Probe-based Assays in human, mouse, rat MTHFS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTHFS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MTHFS gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mthfs5
    Gm23821
    5, 10-methenyltetrahydrofolate synthetase5
    predicted gene 23821
    85.39(n)1
    83.25(a)1
      9 (47.24 cM)5
    1000397071  NM_001128601.11  NP_001122073.11 
     891993795 
    chicken
    (Gallus gallus)
    Aves MTHFS1 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate more 70.9(n)
    70.56(a)
      415484  NM_001277626.1  NP_001264555.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    67(a)
    1 → many
    GL343332.1(424653-462414)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.172552 Xenopus laevis transcribed sequence with weak similarity more 74.03(n)    CA974461.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.167182 Transcribed sequence with weak similarity to protein more 73.95(n)    BI980761.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG110793
    CG344241
    5-formyltetrahydrofolate cyclo-ligase3
    CG344241
    35(a)3
    49.66(n)1
    38.14(a)1
      59D83
    376991  NM_001103962.31  NP_001097432.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y106G6E.43
    CELE_Y106G6E.41
    5-formyltetrahydrofolate cyclo-ligase3
    CELE_Y106G6E.41
    38(a)3
    44.27(n)1
    38.97(a)1
      I(10229739-10230891)3
    1909221  NM_060291.51  NP_492692.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FAU1(YER183C)4
    FAU11
    5,10-methenyltetrahydrofolate synthetase, involved more4
    FAU11
    44.44(n)1
    32.28(a)1
      5(553969-553334)4
    8569321, 4  NP_011110.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons 5-FCL1 5-FCL 46.92(n)
    33.7(a)
      831144  NM_121308.2  NP_568284.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g05786001 Os07g0578600 47.62(n)
    38.62(a)
      4343714  NM_001066630.1  NP_001060095.1 


    ENSEMBL Gene Tree for MTHFS (if available)
    TreeFam Gene Tree for MTHFS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for MTHFS gene
    ST20-MTHFS2  

    MTHFS for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for MTHFS (see all 1151)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs714534721,2
    C--56931247(+) AAAGCAA/-AAAAA 3 -- int11Minor allele frequency- -:0.50NA 2
    rs2021776121,2
    C--56934156(-) AAGGTA/GGTAAG 3 -- int10--------
    rs343755701,2
    C--56947858(+) AGGCA-/GGACAT 3 -- us2k12Minor allele frequency- G:0.00NA CSA 4
    rs169714121,2
    C,F,H--60173538(+) CTAATC/AAGAGT 3 -- ds50018Minor allele frequency- A:0.03NA NS EA WA 680
    rs1502690071,2
    --60173596(+) ATATCC/TCTGCA 3 -- ds50010--------
    rs1125652701,2
    C,F--60173628(+) GATCAC/TTAGGG 3 -- ds50013Minor allele frequency- T:0.05CSA WA 122
    rs101627361,2
    C,F--60173799(+) AAGTTC/GAACAA 3 -- ds50013Minor allele frequency- G:0.01NA 142
    rs1147714271,2
    F--60173824(+) GACCTG/ACAGCA 3 -- ds50011Minor allele frequency- A:0.03WA 118
    rs105192541,2
    C,F,A,H--60173860(-) TTGGTC/GTGAAA 3 -- ds500194Minor allele frequency- G:0.16NS NA EA PA EU CA WA CSA 4644
    rs760425571,2
    F--60173976(+) TCAGTT/GTCCTT 3 -- ds50011Minor allele frequency- G:0.02WA 118

    HapMap Linkage Disequilibrium report for MTHFS (80125927 - 80189721 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MTHFS:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678719CNV Deletion23128226
    esv28440CNV Loss19812545
    nsv833065CNV Loss17160897
    nsv833066CNV Loss17160897

    Human Gene Mutation Database (HGMD): MTHFS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTHFS
    DNA2.0 Custom Variant and Variant Library Synthesis for MTHFS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 604197    OMIM disorders: --

    17 diseases for MTHFS:    
    About MalaCards
    keratoconus    follicular lymphoma    spina bifida    diffuse large b-cell lymphoma
    b-cell lymphomas    cataract    diabetic nephropathy    non-hodgkin lymphoma
    hodgkin's lymphoma    pneumonia    neuroblastoma    atherosclerosis
    ovarian cancer    colorectal cancer    lung cancer    malaria
    cerebritis


    MTHFS for disorders           About GeneDecksing

    Genetic Association Database (GAD): MTHFS
    Human Genome Epidemiology (HuGE) Navigator: MTHFS (15 documents)

    Export disorders for MTHFS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for MTHFS gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with MTHFS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of the human 5,10- methenyltetrahydrofolate synthetase-encoding cDNA. (PubMed id 8522195)1, 2, 3, 9 Dayan A.... Jolivet J. (Gene 1995)
    2. Structural basis for the inhibition of human 5,10- methenyltetrahydrofolate synthetase by N10-substituted folate analogues. (PubMed id 19738041)1, 2, 9 Wu D....Liu Z.-J. (Cancer Res. 2009)
    3. Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies. (PubMed id 18522750)1, 4, 9 Kottgen A....Fox C.S. (BMC Med. Genet. 2008)
    4. One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia. (PubMed id 17891500)1, 4, 9 Lee K.M....Armstrong B.K. (Hum. Genet. 2007)
    5. Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium. (PubMed id 20570913)1, 4 Kelemen L.E....Goode E.L. (amp 2010)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    8. Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer. (PubMed id 19936946)1, 4 Hazra A....Ogino S. (amp 2010)
    9. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PubMed id 19161160)1, 4 Franke B....Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009)
    10. Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma. (PubMed id 18830263)1, 4 Wang S.S....Cerhan J.R. (Leukemia 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 10588 HGNC: 7437 AceView: MTHFS Ensembl:ENSG00000136371 euGenes: HUgn10588
    ECgene: MTHFS Kegg: 10588 H-InvDB: MTHFS

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for MTHFS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for MTHFS gene:
    Search GeneIP for patents involving MTHFS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for MTHFS   OriGene RNAi products in human, mouse, rat for MTHFS  
     OriGene qPCR primer pairs and template standards for MTHFS   OriGene Protein Over-expression Lysate for MTHFS  
     OriGene MassSpec something-or-other for MTHFS   OriGene clones in human, mouse for MTHFS  
     OriGene qSTAR qPCR primer pairs in human, mouse for MTHFS   OriGene Purified Protein for MTHFS  
     OriGene ORF clones in mouse, rat for MTHFS   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MTHFS   OriGene Custom Protein Services for MTHFS  

     
     
     Block miRNA regulation of human, mouse, rat MTHFS using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MTHFS
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTHFS Predesigned siRNA for gene silencing in human, mouse, rat MTHFS
     QuantiFast Probe-based Assays in human, mouse, rat MTHFS QuantiTect SYBR Green Assays in human, mouse, rat MTHFS
     Custom PCR Arrays for MTHFS Search Chromatin IP Primers for MTHFS
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTHFS  Search GeneGlobe Interaction Network for MTHFS
     Regulatory tfbs in MTHFS promoter
     GenScript Custom Purified and Recombinant Proteins Services for MTHFS GenScript cDNA clones with any tag delivered in your preferred vector for MTHFS
     GenScript Custom Assay Services for MTHFS GenScript Custom overexpressing Cell Line Services for MTHFS
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for MTHFS
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     MTHFS antibodies
     MTHFS proteins
     MTHFS lysates
     Antibodies for MTHFS
     See all of Abcam's Antibodies, Kits and Proteins for MTHFS
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for MTHFS
     Proteins for MTHFS
     Antibodies for MTHFS
     ELISAs for MTHFS
     CLIAs for MTHFS



     Browse ESI BIO Cell Lines and PureStem Progenitors for MTHFS
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTHFS
     SwitchGear 3'UTR luciferase reporter plasmids for MTHFS
     SwitchGear Promoter luciferase reporter plasmids for MTHFS
     ThermoFisher Antibodies for MTHFS
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTHFS
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTHFS
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MTHFS
     LSBio Antibodies in human, mouse, rat for MTHFS
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MTHFS gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4