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    MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) [ Homo sapiens (human) ]

    Gene ID: 10588, updated on 13-Aug-2016
    Official Symbol
    MTHFSprovided by HGNC
    Official Full Name
    5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)provided by HGNC
    Primary source
    HGNC:HGNC:7437
    See related
    Ensembl:ENSG00000136371 HPRD:09174; MIM:604197; Vega:OTTHUMG00000144174
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HsT19268
    Summary
    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]
    Orthologs
    Location:
    15q25.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (79843547..79897285, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (80135889..80189627, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S12 pseudogene 25 Neighboring gene RNA, U6 small nuclear 667, pseudogene Neighboring gene ST20-MTHFS readthrough Neighboring gene suppressor of tumorigenicity 20 Neighboring gene ST20 antisense RNA 1 Neighboring gene farnesyl diphosphate synthase pseudogene 9

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Readthrough ST20-MTHFS

    Readthrough gene: ST20-MTHFS, Included gene: ST20

    Homology

    Clone Names

    • FLJ30410

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    5-formyltetrahydrofolate cyclo-ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    5-formyltetrahydrofolate cyclo-ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    5-formyltetrahydrofolate cyclo-ligase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    5-formyltetrahydrofolate cyclo-ligase activity TAS
    Traceable Author Statement
    more info
     
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    folic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    folic acid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    folic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    folic acid-containing compound biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    formate metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    glutamate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tetrahydrofolate interconversion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tetrahydrofolate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    5-formyltetrahydrofolate cyclo-ligase
    Names
    methenyl-THF synthetase
    NP_001186687.1
    NP_006432.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029243.1 RefSeqGene

      Range
      5001..58739
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199758.1NP_001186687.1  5-formyltetrahydrofolate cyclo-ligase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC021483, AL109717, BM313547, CB995322, L38928
      UniProtKB/Swiss-Prot
      P49914
      Conserved Domains (1) summary
      pfam01812
      Location:1141
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
    2. NM_006441.3NP_006432.1  5-formyltetrahydrofolate cyclo-ligase isoform a

      See identical proteins and their annotated locations for NP_006432.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC021483, AL109717, BC019921, L38928
      Consensus CDS
      CCDS10311.1
      UniProtKB/Swiss-Prot
      P49914
      Related
      ENSP00000258874, OTTHUMP00000185568, ENST00000258874, OTTHUMT00000291374
      Conserved Domains (1) summary
      pfam01812
      Location:10198
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    RNA

    1. NR_037654.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon and is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC021483, AL109717, BM450865, DB464304, L38928

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      79843547..79897285 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      80252880..80306583 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)