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Aliases for MTHFS Gene

Aliases for MTHFS Gene

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

Additional gene information for MTHFS Gene

No data available for CIViC summary , 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

Enhancers for MTHFS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H079894 1.4 ENCODE dbSUPER 37.4 +0.1 140 5 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SP3 MTHFS ST20 BCL2A1 ZFAND6 RNU6-667P KIAA1024 ENSG00000279394
GH15H079921 1.1 ENCODE 37.2 -26.0 -25965 2 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 MTHFS ST20 BCL2A1 ST20-AS1 ST20-MTHFS
GH15H079883 0.9 ENCODE 37.4 +11.6 11588 5 ELF3 PKNOX1 FOXA2 ATF1 RAD21 RARA YY1 CREM THAP11 REST MTHFS ST20 BCL2A1 RNU6-667P ZFAND6 KIAA1024 ENSG00000279394
GH15H079853 0.9 ENCODE 30.1 +43.6 43638 1 HDAC1 PKNOX1 RB1 TBL1XR1 SIN3A FEZF1 ZNF2 RAD21 TCF12 ZNF143 MTHFS RNU6-667P BCL2A1 KIAA1024 GC15P079856 ENSG00000261229
GH15H079964 1.6 FANTOM5 ENCODE dbSUPER 14.1 -70.9 -70944 7 HDGF PKNOX1 FOXA2 SIN3A ZNF143 ZNF207 FOS ATF7 RUNX3 JUNB BCL2A1 MTHFS ST20-MTHFS ST20 RNU6-667P LOC101929560 ZFAND6 GC15P079945
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTHFS on UCSC Golden Path with GeneCards custom track

Promoters for MTHFS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000079872 579 1601 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SP3

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

Post-translational modifications for MTHFS Gene

  • Ubiquitination at posLast=1010 and Lys76
  • Modification sites at PhosphoSitePlus

Other Protein References for MTHFS Gene

Antibody Products

  • Abcam antibodies for MTHFS

No data available for DME Specific Peptides for MTHFS Gene

Domains & Families for MTHFS Gene

Gene Families for MTHFS Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog for MTHFS Gene

Gene Ontology (GO) - Molecular Function for MTHFS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA,IDA 19738041
GO:0005542 folic acid binding IDA 7766710
GO:0016874 ligase activity IEA --
GO:0030272 5-formyltetrahydrofolate cyclo-ligase activity IEA,TAS --
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

Animal Models for MTHFS Gene

MGI Knock Outs for MTHFS:

Animal Model Products

CRISPR Products

miRNA for MTHFS Gene

miRTarBase miRNAs that target MTHFS

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MTHFS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTHFS gene
Compartment Confidence
mitochondrion 5
cytosol 5
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTHFS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 7766710
GO:0005759 mitochondrial matrix IDA 7766710
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MTHFS: view

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:0009396 folic acid-containing compound biosynthetic process IBA --
GO:0015942 formate metabolic process NAS 8522195
GO:0035999 tetrahydrofolate interconversion IMP 12764149
GO:0046653 tetrahydrofolate metabolic process IDA 7766710
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
leucovorin Approved Nutra 3323,1162
Phosphoric acid Approved Pharma 0
Folic Acid Approved, Vet_approved Nutra 4513
ATP Nutra Agonist 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
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MTHFS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MTHFS Gene



Protein tissue co-expression partners for MTHFS Gene

NURSA nuclear receptor signaling pathways regulating expression of MTHFS Gene:

MTHFS

SOURCE GeneReport for Unigene cluster for MTHFS Gene:

Hs.194294

Evidence on tissue expression from TISSUES for MTHFS Gene

  • Liver(4.6)
  • Pancreas(4.3)
  • Nervous system(4.3)
  • Stomach(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with MTHFS: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.18 (n)
rat
(Rattus norvegicus)
Mammalia Mthfs 33
  • 86.04 (n)
cow
(Bos Taurus)
Mammalia MTHFS 33 34
  • 85.76 (n)
mouse
(Mus musculus)
Mammalia Gm2382 33 34
  • 85.39 (n)
Mthfs 34
  • 83 (a)
ManyToMany
Mthfsl 16
dog
(Canis familiaris)
Mammalia -- 34
  • 85 (a)
OneToMany
MTHFS 33
  • 83.77 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 80 (a)
ManyToMany
-- 34
  • 80 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves MTHFS 33 34
  • 70.9 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfs 33
  • 63.04 (n)
Str.18593 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.17255 33
zebrafish
(Danio rerio)
Actinopterygii LOC100332843 33
  • 60.71 (n)
MTHFS 34
  • 60 (a)
OneToMany
Dr.16718 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3066 33
fruit fly
(Drosophila melanogaster)
Insecta CG34424 33 34
  • 49.66 (n)
CG11079 35
  • 35 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006824 33
  • 49.47 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y106G6E.4 33
  • 44.27 (n)
Y106G6E.4 35 34
  • 38 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL385C 33
  • 46.13 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAU1 33 34 36
  • 44.44 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10285g 33
  • 44.33 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons 5-FCL 33
  • 46.92 (n)
rice
(Oryza sativa)
Liliopsida Os07g0578600 33
  • 47.62 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06353 33
  • 44.56 (n)
Species where no ortholog for MTHFS was found in the sources mined by GeneCards:
  • 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
rs1000009187 -- 79,848,487(+) AGATC(G/T)CACAT intron-variant
rs1000012239 -- 79,874,104(+) GAAAA(C/T)AACTA intron-variant
rs1000076340 -- 79,890,269(+) CTGGA(A/G)TGCAG intron-variant
rs1000084032 -- 79,848,817(+) AAAAT(G/T)TCTTT intron-variant
rs1000165756 -- 79,873,797(+) GTGAG(C/G)TAAAC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2678719 CNV deletion 23128226
esv28440 CNV loss 19812545
esv3637008 CNV loss 21293372
nsv833065 CNV loss 17160897
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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 60
  2. Structural basis for the inhibition of human 5,10-methenyltetrahydrofolate synthetase by N10-substituted folate analogues. (PMID: 19738041) Wu D … Liu ZJ (Cancer research 2009) 3 4 22 60
  3. Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies. (PMID: 18522750) Kottgen A … Fox CS (BMC medical genetics 2008) 3 22 45 60
  4. One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia. (PMID: 17891500) Lee KM … Armstrong BK (Human genetics 2007) 3 22 45 60
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60

Products for MTHFS Gene

Sources for MTHFS Gene

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