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MTHFS methenyltetrahydrofolate synthetase [ Homo sapiens (human) ]

Gene ID: 10588, updated on 27-Jun-2020

Summary

Official Symbol
MTHFSprovided by HGNC
Official Full Name
methenyltetrahydrofolate synthetaseprovided by HGNC
Primary source
HGNC:HGNC:7437
See related
Ensembl:ENSG00000136371 MIM:604197
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
NEDMEHM; 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]
Expression
Broad expression in liver (RPKM 20.2), kidney (RPKM 14.0) and 23 other tissues See more
Orthologs

Genomic context

See MTHFS in Genome Data Viewer
Location:
15q25.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
MedGen: C5193057 OMIM: 618367 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
formate metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
glutamate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
tetrahydrofolate interconversion IBA
Inferred from Biological aspect of Ancestor
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 IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
5-formyltetrahydrofolate cyclo-ligase
Names
5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
methenyl-THF synthetase
NP_001186687.1
NP_006432.1

NCBI Reference Sequences (RefSeq)

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_006441.4NP_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
    ENSP00000258874.3, ENST00000258874.3
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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