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MTHFD1

GENERAL INFORMATION

Gene name

 MTHFD1

Gene description

 Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression, most abundant in liver.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene.

Reliability score

 Approved based on 4 antibodies.
HPA000704 , HPA001290 , HPA015006 , HPA050052
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical
Cerebral cortexHippocampusCaudateCerebellumThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleNasopharynxBronchusLungLiverGallbladderPancreasOral mucosaSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSoft tissueSkinNotdetectedLowMediumHighSCORE

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
Cerebral cortexThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSkin050100150200TPM
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
HypothalamusPituitary glandCerebral cortexHippocampusCaudateCerebellumThyroid glandAdrenal glandSpleenHeart muscleSkeletal muscleLungLiverPancreasSalivary glandEsophagusStomachSmall intestineColonKidneyUrinary bladderTestisProstateBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryAdipose tissueSkin01020304050RPKM
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
Pituitary glandBrainHippocampusCaudateCerebellumThyroid glandAppendixLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusSmall intestineColonKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumOvaryPlacentaAdipose tissueRetina020406080100120140Tags Per Million

GENE INFORMATION

Gene name

 MTHFD1 (HGNC Symbol)

Synonyms

 MTHFC, MTHFD

Description

 Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]

Chromosome

 14

Cytoband

 q23.3

Chromosome location (bp)

 64388031 - 64463457

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000100714 (version 83.38)

Entrez gene

 4522

UniProt

 P11586 (UniProt - Evidence at protein level)

neXtProt

 NX_P11586

Antibodypedia

 MTHFD1 antibodies

PROTEIN BROWSER
MTHFD1-001
MTHFD1-002
MTHFD1-005
MTHFD1-006
MTHFD1-014
MTHFD1-015
MTHFD1-019

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MTHFD1-001
ENSP00000450560
ENST00000555709
P11586 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic Methylenetetrahydrofolate dehydrogenase Methenyltetrahydrofolate cyclohydrolase Formyltetrahydrofolate synthetase C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processed
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Enzymes
   ENZYME proteins
   Oxidoreductases
   Hydrolases
   Ligase
   Phobius predicted membrane proteins
   TMHMM predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000105 [histidine biosynthetic process]
GO:0001843 [neural tube closure]
GO:0003824 [catalytic activity]
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004477 [methenyltetrahydrofolate cyclohydrolase activity]
GO:0004486 [methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity]
GO:0004487 [methylenetetrahydrofolate dehydrogenase (NAD+) activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0005829 [cytosol]
GO:0006164 [purine nucleotide biosynthetic process]
GO:0006555 [methionine metabolic process]
GO:0006730 [one-carbon metabolic process]
GO:0006766 [vitamin metabolic process]
GO:0006767 [water-soluble vitamin metabolic process]
GO:0007507 [heart development]
GO:0009069 [serine family amino acid metabolic process]
GO:0009070 [serine family amino acid biosynthetic process]
GO:0009086 [methionine biosynthetic process]
GO:0009257 [10-formyltetrahydrofolate biosynthetic process]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0016020 [membrane]
GO:0035999 [tetrahydrofolate interconversion]
GO:0044281 [small molecule metabolic process]
GO:0046655 [folic acid metabolic process]
GO:0048702 [embryonic neurocranium morphogenesis]
GO:0048703 [embryonic viscerocranium morphogenesis]
GO:0055114 [oxidation-reduction process]
GO:0061053 [somite development]
GO:0070062 [extracellular exosome]
Show all
 261 aa
28.2 kDa 		No 0
MTHFD1-002
ENSP00000438588
ENST00000545908
F5H2F4 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0005829 [cytosol]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0055114 [oxidation-reduction process]
Show all
 1020 aa
110.6 kDa 		No 1
MTHFD1-005
ENSP00000477501
ENST00000554768
V9GZ78 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005829 [cytosol]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0055114 [oxidation-reduction process]
Show all
 25 aa
2.8 kDa 		No 0
MTHFD1-006
ENSP00000476468
ENST00000557539
V9GY75 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005829 [cytosol]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0055114 [oxidation-reduction process]
Show all
 68 aa
7.3 kDa 		No 0
MTHFD1-014
ENSP00000477199
ENST00000557370
V9GYY3 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0005829 [cytosol]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0055114 [oxidation-reduction process]
Show all
 107 aa
11.5 kDa 		No 0
MTHFD1-015
ENSP00000477359
ENST00000554739
V9GZ32 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005829 [cytosol]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0055114 [oxidation-reduction process]
Show all
 23 aa
2.6 kDa 		No 0
MTHFD1-019
ENSP00000216605
ENST00000216605
P11586 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic Methylenetetrahydrofolate dehydrogenase Methenyltetrahydrofolate cyclohydrolase Formyltetrahydrofolate synthetase C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processed
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   Hydrolases
   Ligase
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000105 [histidine biosynthetic process]
GO:0001780 [neutrophil homeostasis]
GO:0001843 [neural tube closure]
GO:0003824 [catalytic activity]
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004477 [methenyltetrahydrofolate cyclohydrolase activity]
GO:0004486 [methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity]
GO:0004487 [methylenetetrahydrofolate dehydrogenase (NAD+) activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0006164 [purine nucleotide biosynthetic process]
GO:0006555 [methionine metabolic process]
GO:0006730 [one-carbon metabolic process]
GO:0006766 [vitamin metabolic process]
GO:0006767 [water-soluble vitamin metabolic process]
GO:0007507 [heart development]
GO:0009069 [serine family amino acid metabolic process]
GO:0009070 [serine family amino acid biosynthetic process]
GO:0009086 [methionine biosynthetic process]
GO:0009257 [10-formyltetrahydrofolate biosynthetic process]
GO:0009396 [folic acid-containing compound biosynthetic process]
GO:0016020 [membrane]
GO:0019346 [transsulfuration]
GO:0035999 [tetrahydrofolate interconversion]
GO:0044281 [small molecule metabolic process]
GO:0046655 [folic acid metabolic process]
GO:0048702 [embryonic neurocranium morphogenesis]
GO:0048703 [embryonic viscerocranium morphogenesis]
GO:0055114 [oxidation-reduction process]
GO:0061053 [somite development]
GO:0070062 [extracellular exosome]
Show all
 935 aa
101.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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