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MTHFR methylenetetrahydrofolate reductase (NAD(P)H) [ Homo sapiens (human) ]

Gene ID: 4524, updated on 7-Dec-2014
Official Symbol
MTHFRprovided by HGNC
Official Full Name
methylenetetrahydrofolate reductase (NAD(P)H)provided by HGNC
Primary source
HGNC:HGNC:7436
Locus tag
RP11-56N19.4
See related
Ensembl:ENSG00000177000; HPRD:06158; MIM:607093; Vega:OTTHUMG00000002277
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
Summary
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
See MTHFR in Epigenomics, MapViewer
Location:
1p36.3
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (11785730..11806103, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11845787..11866160, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101060126 Neighboring gene chromosome 1 open reading frame 167 Neighboring gene uncharacterized LOC102724659 Neighboring gene chloride channel, voltage-sensitive 6 Neighboring gene NPPA antisense RNA 1 Neighboring gene natriuretic peptide A Neighboring gene natriuretic peptide B

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Homocysteinemia due to MTHFR deficiency
MedGen: C1856058 OMIM: 236250 GeneReviews: Not available
Compare labs
Neural tube defects, folate-sensitive
MedGen: C1866558 OMIM: 601634 GeneReviews: Not available
Compare labs
Schizophrenia
MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
Compare labs
Thrombophilia Compare labs

NHGRI GWAS Catalog

Description
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association study identifies eight loci associated with blood pressure.
NHGRI GWA Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
NHGRI GWA Catalog
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
NHGRI GWA Catalog
Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.
NHGRI GWA Catalog
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADP binding IEA
Inferred from Electronic Annotation
more info
 
flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
 
methylenetetrahydrofolate reductase (NAD(P)H) activity TAS
Traceable Author Statement
more info
 
modified amino acid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
S-adenosylmethionine metabolic process IEA
Inferred from Electronic Annotation
more info
 
blood circulation TAS
Traceable Author Statement
more info
PubMed 
cellular amino acid metabolic process TAS
Traceable Author Statement
more info
PubMed 
folic acid metabolic process TAS
Traceable Author Statement
more info
 
homocysteine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
methionine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
one-carbon metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to folic acid IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to interleukin-1 IEA
Inferred from Electronic Annotation
more info
 
response to vitamin B2 IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
tetrahydrofolate interconversion IEA
Inferred from Electronic Annotation
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
methylenetetrahydrofolate reductase
Names
methylenetetrahydrofolate reductase
5,10-methylenetetrahydrofolate reductase (NADPH)
NP_005948.3

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_013351.1 

    Range
    5001..25374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_726

mRNA and Protein(s)

  1. NM_005957.4NP_005948.3  methylenetetrahydrofolate reductase

    See proteins identical to NP_005948.3

    Status: REVIEWED

    Source sequence(s)
    AB209113, AJ237672, AL953897, AY046560, BC053509
    Consensus CDS
    CCDS137.1
    UniProtKB/Swiss-Prot
    P42898
    UniProtKB/TrEMBL
    Q59GJ6
    UniProtKB/TrEMBL
    Q8IU67
    Related
    ENSP00000365775, OTTHUMP00000002368, ENST00000376590, OTTHUMT00000006539
    Conserved Domains (1) summary
    cd00537
    Location:60336
    MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    11785730..11806103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263463.1XP_005263520.1  

    Conserved Domains (1) summary
    cd00537
    Location:1254
    MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
  2. XM_005263460.2XP_005263517.1  

    See proteins identical to XP_005263517.1

    UniProtKB/Swiss-Prot
    P42898
    Conserved Domains (1) summary
    cd00537
    Location:60336
    MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
  3. XM_005263462.2XP_005263519.1  

    See proteins identical to XP_005263519.1

    UniProtKB/Swiss-Prot
    P42898
    Conserved Domains (1) summary
    cd00537
    Location:60336
    MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
  4. XM_005263461.2XP_005263518.1  

    See proteins identical to XP_005263518.1

    UniProtKB/Swiss-Prot
    P42898
    Conserved Domains (1) summary
    cd00537
    Location:60336
    MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...
  5. XM_005263458.1XP_005263515.1  

    UniProtKB/Swiss-Prot
    P42898
    Conserved Domains (1) summary
    cd00537
    Location:101377
    MTHFR; Methylenetetrahydrofolate reductase (MTHFR). 5,10-Methylenetetrahydrofolate is reduced to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase, a cytoplasmic, NAD(P)-dependent enzyme. 5-methyltetrahydrofolate is utilized by methionine synthase ...

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    11833709..11854054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    11000872..11021217
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)