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Aliases for MTHFS Gene

Aliases for MTHFS Gene

  • 5,10-Methenyltetrahydrofolate Synthetase (5-Formyltetrahydrofolate Cyclo-Ligase) 2 3
  • Methenyl-THF Synthetase 3 4
  • 5,10-Methenyl-Tetrahydrofolate Synthetase 4
  • 5-Formyltetrahydrofolate Cyclo-Ligase 3
  • 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 One carbon pool by folate. 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

Genomic Location for MTHFS Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys10 and Lys76
  • Modification sites at PhosphoSitePlus

Other Protein References for MTHFS Gene

No data available for DME Specific Peptides for MTHFS Gene

Domains 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 :
  • P49914
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:0005524 ATP binding IEA --
GO:0005542 folic acid binding IEA --
GO:0030272 5-formyltetrahydrofolate cyclo-ligase activity NAS 8522195
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MTHFS: view
genes like me logo Genes that share phenotypes with MTHFS: view

miRNA for MTHFS Gene

miRTarBase miRNAs that target MTHFS

No data available for Animal Models , Transcription Factor Targeting 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
cytosol 5
golgi apparatus 4
plasma membrane 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MTHFS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with MTHFS: view

Pathways 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:0015942 formate metabolic process NAS 8522195
GO:0046653 tetrahydrofolate metabolic process IDA 19738041
genes like me logo Genes that share ontologies with MTHFS: view

Compounds for MTHFS Gene

(7) HMDB Compounds for MTHFS Gene

Compound Synonyms Cas Number PubMed IDs
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyltetrahydrofolate
7444-29-3
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Folic acid
  • Acifolic
59-30-3
Magnesium
  • Magnesium
7439-95-4

(5) Novoseek inferred chemical compound relationships for MTHFS Gene

Compound -log(P) Hits PubMed IDs
5,10-methenyltetrahydrofolate 98.2 21
leucovorin 76.7 9
folate 66.3 6
5-methyltetrahydrofolate 65.5 1
atp 26.4 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 (10.4) and Whole Blood (6.6).

Integrated Proteomics: protein expression 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 expressions with MTHFS: view

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 35
  • 99.18 (n)
  • 98.52 (a)
MTHFS 36
  • 99 (a)
OneToMany
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 35
  • 85.39 (n)
  • 83.25 (a)
Gm2382 36
  • 83 (a)
ManyToMany
Mthfs 16
Mthfs 36
  • 83 (a)
ManyToMany
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 Dr.16718 35
LOC100332843 35
  • 60.71 (n)
  • 61.73 (a)
MTHFS 36
  • 60 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006824 35
  • 49.47 (n)
  • 41.05 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG34424 35
  • 49.66 (n)
  • 38.14 (a)
CG34424 36
  • 35 (a)
OneToMany
CG11079 37
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y106G6E.4 35
  • 44.27 (n)
  • 38.97 (a)
Y106G6E.4 36
  • 36 (a)
OneToMany
Y106G6E.4 37
  • 38 (a)
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 MAF
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

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

No data available for UniProtKB/Swiss-Prot 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
  2. 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 48
  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 48
  4. 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 4 23
  5. Human liver methenyltetrahydrofolate synthetase: improved purification and increased affinity for folate polyglutamate substrates. (PMID: 3801490) Bertrand R. … Jolivet J. (Biochim. Biophys. Acta 1987) 3 4

Products for MTHFS Gene

Sources for MTHFS Gene

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