Cell atlas - MTHFR - The Human Protein Atlas

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MTHFR

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cell Junctions

Human cell
	Plasma Membrane

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GENERAL INFORMATION
Gene name	MTHFR
Gene description	Methylenetetrahydrofolate reductase (NAD(P)H)
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	9
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the cell junctions.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Cell Junctions (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA063389
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the cell junctions.

Main location

Cell Junctions (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA063389	SH-SY5Y	Cell Junctions
	HPA063389	U-2 OS	Cell Junctions

GENE INFORMATION
Gene name	MTHFR
Synonyms
Description	Methylenetetrahydrofolate reductase (NAD(P)H) (HGNC Symbol)
Entrez gene 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]
Chromosome	1
Cytoband	p36.22
Chromosome location (bp)	11785723 - 11806920
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000177000 (version 83.38)
Entrez gene	4524
UniProt	P42898 (UniProt - Evidence at protein level)
neXtProt	NX_P42898
Antibodypedia	MTHFR antibodies

PROTEIN BROWSER

MTHFR-001	MTHFR-002	MTHFR-003	MTHFR-004	MTHFR-005	MTHFR-006	MTHFR-007	MTHFR-008	MTHFR-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MTHFR-001 ENSP00000365777 ENST00000376592	P42898 [Direct mapping] Methylenetetrahydrofolate reductase Show all	Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0001666 [response to hypoxia] GO:0004489 [methylenetetrahydrofolate reductase (NAD(P)H) activity] GO:0005829 [cytosol] GO:0006520 [cellular amino acid metabolic process] GO:0006555 [methionine metabolic process] GO:0006766 [vitamin metabolic process] GO:0006767 [water-soluble vitamin metabolic process] GO:0008015 [blood circulation] GO:0009086 [methionine biosynthetic process] GO:0031060 [regulation of histone methylation] GO:0032403 [protein complex binding] GO:0033274 [response to vitamin B2] GO:0035999 [tetrahydrofolate interconversion] GO:0042493 [response to drug] GO:0043005 [neuron projection] GO:0043200 [response to amino acid] GO:0044281 [small molecule metabolic process] GO:0046500 [S-adenosylmethionine metabolic process] GO:0046653 [tetrahydrofolate metabolic process] GO:0046655 [folic acid metabolic process] GO:0050660 [flavin adenine dinucleotide binding] GO:0050661 [NADP binding] GO:0050667 [homocysteine metabolic process] GO:0051593 [response to folic acid] GO:0055114 [oxidation-reduction process] GO:0070555 [response to interleukin-1] GO:0070829 [heterochromatin maintenance] GO:0072341 [modified amino acid binding] Show all	656 aa 74.6 kDa	No	0
MTHFR-002 ENSP00000365775 ENST00000376590	P42898 [Direct mapping] Methylenetetrahydrofolate reductase Show all	Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0004489 [methylenetetrahydrofolate reductase (NAD(P)H) activity] GO:0005829 [cytosol] GO:0006520 [cellular amino acid metabolic process] GO:0006555 [methionine metabolic process] GO:0006766 [vitamin metabolic process] GO:0006767 [water-soluble vitamin metabolic process] GO:0008015 [blood circulation] GO:0031060 [regulation of histone methylation] GO:0032403 [protein complex binding] GO:0035999 [tetrahydrofolate interconversion] GO:0044281 [small molecule metabolic process] GO:0046655 [folic acid metabolic process] GO:0050660 [flavin adenine dinucleotide binding] GO:0050667 [homocysteine metabolic process] GO:0055114 [oxidation-reduction process] GO:0070829 [heterochromatin maintenance] GO:0072341 [modified amino acid binding] Show all	656 aa 74.6 kDa	No	0
MTHFR-003 ENSP00000365669 ENST00000376486	Q8IU67 [Direct mapping] Methylenetetrahydrofolate reductase; Methylenetetrahydrofolate reductase short isoform Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		30 aa 3 kDa	No	0
MTHFR-004 ENSP00000405082 ENST00000418034	Q5SNW5 [Direct mapping] Methylenetetrahydrofolate reductase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004489 [methylenetetrahydrofolate reductase (NAD(P)H) activity] GO:0005829 [cytosol] GO:0006555 [methionine metabolic process] GO:0035999 [tetrahydrofolate interconversion] GO:0055114 [oxidation-reduction process] Show all	143 aa 15.8 kDa	No	0
MTHFR-005 ENSP00000398908 ENST00000423400	Q5SNW7 [Direct mapping] Methylenetetrahydrofolate reductase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005829 [cytosol] Show all	53 aa 5.3 kDa	No	0
MTHFR-006 ENSP00000400460 ENST00000431243	Q8IU67 [Direct mapping] Methylenetetrahydrofolate reductase; Methylenetetrahydrofolate reductase short isoform Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		30 aa 3 kDa	No	0
MTHFR-007 ENSP00000365770 ENST00000376585	P42898 [Direct mapping] Methylenetetrahydrofolate reductase Show all	Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0004489 [methylenetetrahydrofolate reductase (NAD(P)H) activity] GO:0005829 [cytosol] GO:0006520 [cellular amino acid metabolic process] GO:0006555 [methionine metabolic process] GO:0006766 [vitamin metabolic process] GO:0006767 [water-soluble vitamin metabolic process] GO:0008015 [blood circulation] GO:0031060 [regulation of histone methylation] GO:0032403 [protein complex binding] GO:0035999 [tetrahydrofolate interconversion] GO:0044281 [small molecule metabolic process] GO:0046655 [folic acid metabolic process] GO:0050660 [flavin adenine dinucleotide binding] GO:0050667 [homocysteine metabolic process] GO:0055114 [oxidation-reduction process] GO:0070829 [heterochromatin maintenance] GO:0072341 [modified amino acid binding] Show all	697 aa 79 kDa	No	0
MTHFR-008 ENSP00000408307 ENST00000413656	Q8IU67 [Direct mapping] Methylenetetrahydrofolate reductase; Methylenetetrahydrofolate reductase short isoform Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		30 aa 3 kDa	No	0
MTHFR-201 ENSP00000365767 ENST00000376583	P42898 [Direct mapping] Methylenetetrahydrofolate reductase Show all	Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0004489 [methylenetetrahydrofolate reductase (NAD(P)H) activity] GO:0005829 [cytosol] GO:0006520 [cellular amino acid metabolic process] GO:0006555 [methionine metabolic process] GO:0006766 [vitamin metabolic process] GO:0006767 [water-soluble vitamin metabolic process] GO:0008015 [blood circulation] GO:0031060 [regulation of histone methylation] GO:0032403 [protein complex binding] GO:0035999 [tetrahydrofolate interconversion] GO:0044281 [small molecule metabolic process] GO:0046655 [folic acid metabolic process] GO:0050660 [flavin adenine dinucleotide binding] GO:0050667 [homocysteine metabolic process] GO:0055114 [oxidation-reduction process] GO:0070829 [heterochromatin maintenance] GO:0072341 [modified amino acid binding] Show all	697 aa 79 kDa	No	0

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.