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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MTHFS Gene

protein-coding   GIFtS: 59
GCID: GC15M080125

5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate...

 Explore 17 diseases affiliated with
MTHFS via our new
 Human Malady Compendium 
Biological research products
for MTHFS
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
5,10-Methenyltetrahydrofolate Synthetase (5-Formyltetrahydrofolate
Cyclo-Ligase)1 2
HsT192681 2
Methenyl-THF Synthetase2 3
5-Formyltetrahydrofolate Cyclo-Ligase2
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MTHFS:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MTHFS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

1 alternative location:
Chr15- 80,137,537-80,216,096     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Cytoplasm
4 PDB 3D structures from and Proteopedia for MTHFS:
3HXT (3D)        3HY3 (3D)        3HY4 (3D)        3HY6 (3D)    

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P49914

  • MTHFS Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000454318   ENSP00000258874   ENSP00000454626  

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    Uscn Proteins for MTHFS

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    MTHFS for ontologies           About GeneDecksing



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

    MTHFS for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR024185 FTHF_cligase-like
     IPR002698 FTHF_cligase

    Graphical View of Domain Structure for InterPro Entry P49914

    ProtoNet protein and cluster: P49914

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

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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


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

    MTHFS for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Antimetabolite Pathway - Folate Cycle, Pharmacodynamics1.00
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics0.36
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics0.45
    2One Carbon Metabolism
    One Carbon Metabolism1.00
    One carbon pool by folate0.52
    3Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTHFS

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

    5/9 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
    MTHFD2ENSP000003776174STRING: ENSP00000377617
    MTHFD2LENSP000003791084STRING: ENSP00000379108
    UBCENSP000003448184STRING: ENSP00000344818
    ISCUENSP000003106234STRING: ENSP00000310623
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MTHFS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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 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)

    Search CenterWatch for drugs/clinical trials and news about MTHFS 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    hsa-miR-21* hsa-miR-514 hsa-miR-514b-3p
    SwitchGear 3'UTR luciferase reporter plasmidMTHFS 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

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

    12 DOTS entries:

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

    24/307 AceView cDNA sequences (see all 307):

    BM674537 BU077484 BM510737 BM769396 AI090295 BM450865 R14575 BM830783 
    AL109714 AI188428 AI420454 AA701992 BM830804 BM823153 BM507216 AA765734 
    BM823582 BQ938159 CK905549 BM769301 AW273775 AA807026 AI160812 BM508087 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MTHFS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGGTAGATG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MTHFS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTHFS

    SOURCE GeneReport for Unigene clusters: Hs.194294 Hs.459049
        SABiosciences Custom PCR Arrays for MTHFS
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    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

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for MTHFS gene from 10/34 species (see all 34)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves MTHFS1 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate more 71.07(n)
    70.56(a)
      415484  XM_413857.3  XP_413857.2 
    lizard
    (Anolis carolinensis)
    Reptilia MTHFS6
    --
    67(a)
    1 → many
    GL343332.1(424653-438210)
    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
    49.48(n)1
    38.14(a)1
      59D83
    376991  NM_001103962.21  NP_001097432.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y106G6E.43
    CELE_Y106G6E.41
    5-formyltetrahydrofolate cyclo-ligase3
    Protein Y106G6E.41
    38(a)3
    44.27(n)1
    38.97(a)1
      I(10229739-10230891)3
    1909221  NM_060291.41  NP_492692.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FAU1(YER183C)4
    FAU11
    5,10-methenyltetrahydrofolate synthetase, involved more4
    Fau1p1
    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-formyltetrahydrofolate cycloligase 46.74(n)
    32.8(a)
      831144  NM_121308.2  NP_568284.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g05786001 hypothetical protein 46.18(n)
    35.42(a)
      4343714  NM_001066630.1  NP_001060095.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria fau6
    conserved protein, 5-formyltetrahydrofolate cyclo-...
    21(a)
    1 → many
    Chromosome(3054263-3054811)


    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
    Paralogs for MTHFS gene
    ST20-MTHFS2  

    MTHFS for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/985 NCBI SNPs in MTHFS are shown (see all 985    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs169714121,2
    C,F,H,--56893513(+) CTAATC/AAGAGT 3 -- ds50018Minor allele frequency- A:0.03NA NS EA WA 680
    rs1125652701,2
    F,--56893603(+) GATCAC/TTAGGG 3 -- ds50013Minor allele frequency- T:0.05CSA WA 122
    rs101627361,2
    C,--56893774(+) AAGTTC/GAACAA 3 -- ds50013Minor allele frequency- G:0.01NA 142
    rs105192541,2
    C,F,A,H,--56893835(-) TTGGTC/GTGAAA 3 -- ds500194Minor allele frequency- G:0.16NS NA EA PA EU CA WA CSA 4644
    rs760425571,2
    F,--56893951(+) TCAGTT/GTCCTT 3 -- ds50011Minor allele frequency- G:0.02WA 118
    rs763032691,2
    --56894069(+) AAGAAT/CAATGG 3 -- ut31 nc-transcript-variant1Minor allele frequency- C:0.01WA 118
    rs764247891,2
    --56894139(+) CTCTCA/TCACAC 3 -- ut31 nc-transcript-variant2Minor allele frequency- T:0.13CSA WA 120
    rs80336491,2
    C,F,A,H,--56894406(+) AACAAC/AAGAAA 3 -- ut31 nc-transcript-variant20Minor allele frequency- A:0.09NS EA NA CSA WA 2088
    rs105192531,2
    C,F,H,--56894580(-) GTAGCT/AAACAG 3 -- ut31 nc-transcript-variant99Minor allele frequency- A:0.34NS NA EA PA EU CA WA 6056
    rs354485891,2
    C,F,--56894855(+) GGATGG/AACATG 3 -- ut31 nc-transcript-variant4Minor allele frequency- A:0.09NA 126

    HapMap Linkage Disequilibrium report for MTHFS (80125927 - 80189721 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MTHFS
         1 CNV: 87763
         1 Indel: 87762
    Human Gene Mutation Database (HGMD): MTHFS

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MTHFS for disorders           About GeneDecksing

    OMIM gene information: 604197    OMIM disorders: --

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

    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

    PubMed articles for MTHFS gene, integrated from 9 sources (see all 38):
    (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. (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. (2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Human liver methenyltetrahydrofolate synthetase: improved purification and increased affinity for folate polyglutamate substrates. (PubMed id 3801490)1, 2 Bertrand R.... Jolivet J. (1987)
    5. Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies. (PubMed id 18522750)1, 9 Kottgen A....Fox C.S. (2008)
    6. One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia. (PubMed id 17891500)1, 9 Lee K.M....Armstrong B.K. (2007)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    9. The impact of 5,10-methenyltetrahydrofolate synthetase polymorphism on diabetic nephropathy in the Taiwanese population. (PubMed id 21895484)1 Lin C.J....Hsieh C.H. (2012)
    10. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10588 HGNC: 7437 AceView: MTHFS Ensembl:ENSG00000136371 euGenes: HUgn10588
    ECgene: MTHFS Kegg: 10588 H-InvDB: MTHFS

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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