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Aliases for MTHFS Gene

Aliases for MTHFS Gene

  • 5,10-Methenyltetrahydrofolate Synthetase (5-Formyltetrahydrofolate Cyclo-Ligase) 2 3 5
  • Methenyl-THF Synthetase 3 4
  • 5,10-Methenyl-Tetrahydrofolate Synthetase 4
  • EC 6.3.3.2 4
  • HsT19268 3

External Ids for MTHFS Gene

Previous GeneCards Identifiers for MTHFS Gene

  • GC15M076098
  • GC15M073294
  • GC15M077713
  • GC15M077853
  • GC15M077924
  • GC15M080137
  • GC15M056895
  • GC15M080125

Summaries for MTHFS Gene

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. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. 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 for MTHFS Gene

  • 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. Catalyzes the irreversible conversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10-methenyltetrahydrofolate.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTHFS Gene

Genomics for MTHFS Gene

Regulatory Elements for MTHFS Gene

Promoters for MTHFS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MTHFS on UCSC Golden Path with GeneCards custom track

Genomic Location for MTHFS Gene

Chromosome:
15
Start:
79,833,585 bp from pter
End:
79,897,379 bp from pter
Size:
63,795 bases
Orientation:
Minus strand

Genomic View for MTHFS Gene

Genes around MTHFS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTHFS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTHFS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTHFS Gene

Proteins for MTHFS Gene

  • Protein details for MTHFS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49914-MTHFS_HUMAN
    Recommended name:
    5-formyltetrahydrofolate cyclo-ligase
    Protein Accession:
    P49914
    Secondary Accessions:
    • H3BQ75

    Protein attributes for MTHFS Gene

    Size:
    203 amino acids
    Molecular mass:
    23256 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=CK002935; Type=Frameshift; Positions=178, 201; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MTHFS Gene

    Alternative splice isoforms for MTHFS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTHFS Gene

Proteomics data for MTHFS Gene at MOPED

Post-translational modifications for MTHFS Gene

  • Ubiquitination at Lys 10 and Lys 76
  • Modification sites at PhosphoSitePlus

Other Protein References for MTHFS Gene

Antibody Products

No data available for DME Specific Peptides for MTHFS Gene

Domains & Families for MTHFS Gene

Protein Domains for MTHFS Gene

Suggested Antigen Peptide Sequences for MTHFS Gene

Graphical View of Domain Structure for InterPro Entry

P49914

UniProtKB/Swiss-Prot:

MTHFS_HUMAN :
  • Belongs to the 5-formyltetrahydrofolate cyclo-ligase family.
Family:
  • Belongs to the 5-formyltetrahydrofolate cyclo-ligase family.
genes like me logo Genes that share domains with MTHFS: view

No data available for Gene Families for MTHFS Gene

Function for MTHFS Gene

Molecular function for MTHFS Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 5-formyltetrahydrofolate = ADP + phosphate + 5,10-methenyltetrahydrofolate.
UniProtKB/Swiss-Prot 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. Catalyzes the irreversible conversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10-methenyltetrahydrofolate.

Enzyme Numbers (IUBMB) for MTHFS Gene

Gene Ontology (GO) - Molecular Function for MTHFS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005542 folic acid binding IDA 7766710
genes like me logo Genes that share ontologies with MTHFS: view

Phenotypes for MTHFS Gene

genes like me logo Genes that share phenotypes with MTHFS: view

Animal Models for MTHFS Gene

MGI Knock Outs for MTHFS:

Animal Model Products

  • Taconic Biosciences Mouse Models for MTHFS

miRNA for MTHFS Gene

miRTarBase miRNAs that target MTHFS

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTHFS Gene

Localization for MTHFS Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTHFS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTHFS Gene COMPARTMENTS Subcellular localization image for MTHFS gene
Compartment Confidence
mitochondrion 5
cytosol 4
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for MTHFS Gene

Pathways & Interactions for MTHFS Gene

genes like me logo Genes that share pathways with MTHFS: view

Gene Ontology (GO) - Biological Process for MTHFS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006536 glutamate metabolic process IMP 12764149
GO:0046653 tetrahydrofolate metabolic process IDA 7766710
GO:0046655 folic acid metabolic process TAS --
GO:0046657 folic acid catabolic process IMP 12764149
genes like me logo Genes that share ontologies with MTHFS: view

No data available for SIGNOR curated interactions for MTHFS Gene

Drugs & Compounds for MTHFS Gene

(8) Drugs for MTHFS Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Folic Acid Approved Nutra 2924
N5-Formyl-THF Experimental Pharma 0
Magnesium Nutra 0

(6) Additional Compounds for MTHFS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyl-THF
  • 5,10-Methenyltetrahydrofolate
  • Anhydro-leucovorin
  • Anhydro-leucovorin a
  • Anhydroleucovorin
7444-29-3
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with MTHFS: view

Transcripts for MTHFS Gene

Unigene Clusters for MTHFS Gene

5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MTHFS Gene

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

Relevant External Links for MTHFS Gene

GeneLoc Exon Structure for
MTHFS
ECgene alternative splicing isoforms for
MTHFS

Expression for MTHFS Gene

mRNA expression in normal human tissues for MTHFS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MTHFS Gene

This gene is overexpressed in Liver (x10.4) and Whole Blood (x6.6).

Protein differential expression in normal tissues from HIPED for MTHFS Gene

This gene is overexpressed in Liver (19.7), Peripheral blood mononuclear cells (12.1), and Gallbladder (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTHFS Gene



SOURCE GeneReport for Unigene cluster for MTHFS Gene Hs.194294

genes like me logo Genes that share expression patterns with MTHFS: view

Protein tissue co-expression partners for MTHFS Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MTHFS Gene

Orthologs for MTHFS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTHFS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTHFS 36
  • 99 (a)
OneToMany
MTHFS 35
  • 99.18 (n)
  • 98.52 (a)
cow
(Bos Taurus)
Mammalia MTHFS 35
  • 85.76 (n)
  • 83.92 (a)
MTHFS 36
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 85 (a)
OneToMany
MTHFS 35
  • 83.77 (n)
  • 86.01 (a)
mouse
(Mus musculus)
Mammalia Gm2382 36
  • 83 (a)
ManyToMany
Mthfs 36
  • 83 (a)
ManyToMany
Gm2382 35
  • 85.39 (n)
  • 83.25 (a)
Mthfsl 16
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 80 (a)
ManyToMany
-- 36
  • 80 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mthfs 35
  • 86.04 (n)
  • 83.25 (a)
chicken
(Gallus gallus)
Aves MTHFS 35
  • 70.9 (n)
  • 70.56 (a)
MTHFS 36
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 67 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.17255 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfs 35
  • 63.04 (n)
  • 58.55 (a)
Str.18593 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3066 35
zebrafish
(Danio rerio)
Actinopterygii MTHFS 36
  • 60 (a)
OneToMany
Dr.16718 35
LOC100332843 35
  • 60.71 (n)
  • 61.73 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006824 35
  • 49.47 (n)
  • 41.05 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11079 37
  • 35 (a)
CG34424 35
  • 49.66 (n)
  • 38.14 (a)
CG34424 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y106G6E.4 37
  • 38 (a)
CELE_Y106G6E.4 35
  • 44.27 (n)
  • 38.97 (a)
Y106G6E.4 36
  • 36 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL385C 35
  • 46.13 (n)
  • 35.68 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAU1 35
  • 44.44 (n)
  • 32.28 (a)
FAU1 36
  • 28 (a)
OneToMany
FAU1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10285g 35
  • 44.33 (n)
  • 33.5 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons 5-FCL 35
  • 46.92 (n)
  • 33.7 (a)
rice
(Oryza sativa)
Liliopsida Os07g0578600 35
  • 47.62 (n)
  • 38.62 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06353 35
  • 44.56 (n)
  • 37.31 (a)
Species with no ortholog for MTHFS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTHFS Gene

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

Paralogs for MTHFS Gene

Paralogs for MTHFS Gene

genes like me logo Genes that share paralogs with MTHFS: view

Variants for MTHFS Gene

Sequence variations from dbSNP and Humsavar for MTHFS Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_034115 -

Structural Variations from Database of Genomic Variants (DGV) for MTHFS Gene

Variant ID Type Subtype PubMed ID
nsv833065 CNV Loss 17160897
esv28440 CNV Loss 19812545
esv2678719 CNV Deletion 23128226
nsv833066 CNV Loss 17160897

Variation tolerance for MTHFS Gene

Residual Variation Intolerance Score: 79.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTHFS Gene

HapMap Linkage Disequilibrium report
MTHFS
Human Gene Mutation Database (HGMD)
MTHFS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTHFS Gene

Disorders for MTHFS Gene

Relevant External Links for MTHFS

Genetic Association Database (GAD)
MTHFS
Human Genome Epidemiology (HuGE) Navigator
MTHFS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTHFS

No disorders were found for MTHFS Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTHFS Gene

Publications for MTHFS Gene

  1. Cloning and characterization of the human 5,10- methenyltetrahydrofolate synthetase-encoding cDNA. (PMID: 8522195) Dayan A. … Jolivet J. (Gene 1995) 2 3 4 23 67
  2. Structural basis for the inhibition of human 5,10- methenyltetrahydrofolate synthetase by N10-substituted folate analogues. (PMID: 19738041) Wu D. … Liu Z.-J. (Cancer Res. 2009) 3 23
  3. Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies. (PMID: 18522750) Kottgen A. … Fox C.S. (BMC Med. Genet. 2008) 3 23
  4. One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia. (PMID: 17891500) Lee K.M. … Armstrong B.K. (Hum. Genet. 2007) 3 23
  5. Identification and characterization of human mitochondrial methenyltetrahydrofolate synthetase activity. (PMID: 7766710) Bertrand R. … Jolivet J. (Biochim. Biophys. Acta 1995) 3 23

Products for MTHFS Gene

Sources for MTHFS Gene

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