methylenetetrahydrofolate reductase (Q424709)

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mammalian protein found in Homo sapiens

• methylenetetrahydrofolate reductase (NAD(P)H)
• MTHFR
• 5,10-methylenetetrahydrofolate reductase (NADPH)
• Methylenetetrahydrofolate Reductase (NADPH2)

edit

Language	Label	Description	Also known as
English	methylenetetrahydrofolate reductase	mammalian protein found in Homo sapiens	methylenetetrahydrofolate reductase (NAD(P)H) MTHFR 5,10-methylenetetrahydrofolate reductase (NADPH) Methylenetetrahydrofolate Reductase (NADPH2)

Statements

instance of

protein

1 reference

stated in

UniProt

retrieved

13 November 2019

UniProt protein ID

P42898

subclass of

enzyme

0 references

part of

FAD-linked oxidoreductase-like

1 reference

stated in

InterPro Release 71.0

reference URL

http://www.ebi.ac.uk/interpro/protein/P42898

Eukaryotic-type methylenetetrahydrofolate reductase

1 reference

stated in

InterPro Release 71.0

reference URL

http://www.ebi.ac.uk/interpro/protein/P42898

image

MTHFR active site.jpg
939 × 649; 149 KB

0 references

found in taxon

Homo sapiens

1 reference

stated in

UniProt

retrieved

13 November 2019

UniProt protein ID

P42898

encoded by

MTHFR

1 reference

stated in

UniProt

retrieved

13 November 2019

UniProt protein ID

P42898

molecular function

flavin adenine dinucleotide binding

determination method

IDA

IEA

2 references

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

retrieved

27 February 2018

stated in

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation

GOA

curator

British Heart Foundation

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IDA

methylenetetrahydrofolate reductase (NAD(P)H) activity

determination method

IDA

IGI

TAS

IMP

IEA

10 references

retrieved

27 February 2018

stated in

GOA

curator

Reactome

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

TAS

retrieved

27 February 2018

stated in

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

GOA

curator

Proteome Inc.

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

TAS

retrieved

27 February 2018

stated in

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

GOA

curator

UniProt

UniProt protein ID

P42898

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IMP

retrieved

27 February 2018

stated in

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation

GOA

curator

British Heart Foundation

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IMP

retrieved

27 February 2018

stated in

Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae

GOA

curator

British Heart Foundation

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IGI

retrieved

27 February 2018

stated in

GOA

curator

UniProt

UniProt protein ID

P42898

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

retrieved

27 February 2018

stated in

GOA

curator

InterPro

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

retrieved

27 February 2018

stated in

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation

GOA

curator

British Heart Foundation

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IDA

retrieved

27 February 2018

stated in

MTHFR promotes heterochromatin maintenance

GOA

curator

British Heart Foundation

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IDA

modified amino acid binding

determination method

IDA

1 reference

retrieved

27 February 2018

stated in

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

GOA

curator

UniProt

UniProt protein ID

P42898

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IDA

catalytic activity

determination method

IEA

1 reference

retrieved

27 February 2018

stated in

GOA

curator

UniProt

UniProt protein ID

P42898

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

NADP binding

determination method

IEA

1 reference

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

oxidoreductase activity

determination method

IEA

1 reference

retrieved

27 February 2018

stated in

GOA

curator

UniProt

UniProt protein ID

P42898

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

protein-containing complex binding

determination method

IPI

1 reference

retrieved

27 February 2018

stated in

MTHFR promotes heterochromatin maintenance

GOA

curator

British Heart Foundation

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IPI

cell component

cytosol

determination method

IEA

IBA

TAS

3 references

retrieved

27 February 2018

stated in

GOA

curator

Reactome

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

TAS

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

retrieved

27 February 2018

stated in

GOA

curator

GO Central

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IBA

synapse

determination method

IEA

1 reference

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

biological process

response to amino acid

determination method

IEA

1 reference

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

response to interleukin-1

determination method

IEA

1 reference

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

response to hypoxia

determination method

IEA

1 reference

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

cellular amino acid metabolic process

determination method

TAS

1 reference

retrieved

27 February 2018

stated in

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

GOA

curator

Proteome Inc.

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

TAS

tetrahydrofolate interconversion

determination method

IDA

IGI

IEA

IMP

5 references

retrieved

27 February 2018

stated in

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

GOA

curator

UniProt

UniProt protein ID

P42898

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IMP

retrieved

27 February 2018

stated in

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation

GOA

curator

British Heart Foundation

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IMP

retrieved

27 February 2018

stated in

Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae

GOA

curator

British Heart Foundation

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IGI

retrieved

27 February 2018

stated in

GOA

curator

UniProt

UniProt protein ID

P42898

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

retrieved

27 February 2018

stated in

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation

GOA

curator

British Heart Foundation

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IDA

S-adenosylmethionine metabolic process

determination method

IEA

1 reference

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

blood circulation

determination method

TAS

1 reference

retrieved

27 February 2018

stated in

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

GOA

curator

Proteome Inc.

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

TAS

tetrahydrofolate metabolic process

determination method

IEA

1 reference

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

methionine metabolic process

determination method

IGI

IEA

2 references

retrieved

27 February 2018

stated in

Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae

GOA

curator

British Heart Foundation

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IGI

retrieved

27 February 2018

stated in

GOA

curator

InterPro

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

regulation of histone methylation

determination method

IDA

1 reference

retrieved

27 February 2018

stated in

MTHFR promotes heterochromatin maintenance

GOA

curator

British Heart Foundation

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IDA

response to vitamin B2

determination method

IEA

1 reference

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

folic acid metabolic process

determination method

TAS

1 reference

retrieved

27 February 2018

stated in

GOA

curator

Reactome

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

TAS

homocysteine metabolic process

determination method

IDA

IEA

2 references

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

retrieved

27 February 2018

stated in

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

GOA

curator

UniProt

UniProt protein ID

P42898

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IDA

response to folic acid

determination method

IEA

1 reference

retrieved

27 February 2018

stated in

GOA

curator

Ensembl genome database project

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

metabolism

determination method

IEA

1 reference

retrieved

27 February 2018

stated in

GOA

curator

UniProt

UniProt protein ID

P42898

reference URL

http://www.ebi.ac.uk/QuickGO/annotations?protein=P42898&geneProductId=UniProtKB:P42898

determination method

IEA

Gene Atlas image

PBB GE MTHFR 206800 at fs.png
732 × 530; 11 KB

0 references

exact match

http://purl.uniprot.org/uniprot/P42898

1 reference

stated in

Identifiers.org

Identifiers

MeSH descriptor ID

D042965

subject named as

Methylenetetrahydrofolate Reductase (NADPH2)

0 references

MeSH tree code

D08.811.682.662.290

0 references

D12.776.331.775

0 references

RefSeq protein ID

NP_001317287

1 reference

stated in

NCBI Gene

retrieved

30 May 2020

Entrez Gene ID

4524

NP_005948

1 reference

stated in

NCBI Gene

retrieved

30 May 2020

Entrez Gene ID

4524

XP_005263517

1 reference

stated in

NCBI Gene

retrieved

30 May 2020

Entrez Gene ID

4524

XP_005263519

1 reference

stated in

NCBI Gene

retrieved

30 May 2020

Entrez Gene ID

4524

XP_005263520

1 reference

stated in

NCBI Gene

retrieved

30 May 2020

Entrez Gene ID

4524

XP_011539797

1 reference

stated in

NCBI Gene

retrieved

30 May 2020

Entrez Gene ID

4524

XP_011539798

1 reference

stated in

NCBI Gene

retrieved

30 May 2020

Entrez Gene ID

4524

XP_016856817

1 reference

stated in

NCBI Gene

retrieved

30 May 2020

Entrez Gene ID

4524

XP_024302966

1 reference

stated in

NCBI Gene

retrieved

30 May 2020

Entrez Gene ID

4524

UniProt protein ID

P42898

1 reference

stated in

UniProt

retrieved

13 November 2019

UniProt protein ID

P42898

Ensembl protein ID

ENSP00000365767

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000365767

ENSP00000365770

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000365770

ENSP00000365775

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000365775

ENSP00000365777

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000365777

ENSP00000365669

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000365669

ENSP00000398908

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000398908

ENSP00000405082

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000405082

ENSP00000408307

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000408307

ENSP00000493116

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000493116

ENSP00000492937

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000492937

ENSP00000493098

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000493098

ENSP00000493262

1 reference

stated in

Ensembl Release 99

Ensembl protein ID

ENSP00000493262

Freebase ID

/m/04tmdk

1 reference

stated in

Freebase Data Dumps

publication date

28 October 2013

Microsoft Academic ID

43563269

0 references

2909042787

0 references

OpenAlex ID

C43563269

1 reference

stated in

OpenAlex

retrieved

26 January 2022

reference URL

https://docs.openalex.org/download-snapshot/snapshot-data-format

UMLS CUI

C0066357

1 reference

based on heuristic

inferred by common MeSH mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

25 May 2023

 

Sitelinks

Wikipedia(17 entries)

edit

• bswiki MTHFR
• dewiki Methylentetrahydrofolat-Reduktase
• enwiki Methylenetetrahydrofolate reductase
• eswiki Metilentetrahidrofolato reductasa
• frwiki 5,10-Méthylènetétrahydrofolate réductase
• hewiki MTHFR (אנזים)
• itwiki Metilenetetraidrofolato reduttasi (NAD(P)H)
• jawiki メチレンテトラヒドロ葉酸還元酵素
• plwiki Reduktaza metylenotetrahydrofolianu
• ptwiki Metilenotetrahidrofolato redutase
• rowiki Metilentetrahidrofolat reductază
• ruwiki Метилентетрагидрофолатредуктаза
• shwiki Metilentetrahidrofolat reduktaza (NAD(P)H)
• srwiki Metilentetrahidrofolat reduktaza (NAD(P)H)
• trwiki Metilentetrahidrofolat redüktaz
• ttwiki MTHFR
• ukwiki Метилентетрагідрофолатредуктаза

Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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Retrieved from "https://www.wikidata.org/w/index.php?title=Q424709&oldid=2022902330"