MTHFD1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation. Caution, targets protein from more than one gene.

Data reliability

Uncertain based on 4 antibodies.
HPA000704 , HPA001290 , HPA015006 , HPA050052
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

4522

UniProt

P11586 (UniProt - Evidence at protein level)

neXtProt

NX_P11586

Antibodypedia

MTHFD1 antibodies


PROTEIN BROWSER

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ENST00000216605
 
ENST00000545908
 
ENST00000554739
 
ENST00000554768
 
ENST00000555709
 
ENST00000557370
 
ENST00000557539
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MTHFD1-001 ENSP00000450560
ENST00000555709
P11586
Show all »
Show » Show » 261 28.2 No 0
MTHFD1-002 ENSP00000438588
ENST00000545908
F5H2F4
Show all »
Show » Show » 1020 110.6 No 1
MTHFD1-005 ENSP00000477501
ENST00000554768
V9GZ78
Show all »
Show » Show » 25 2.8 No 0
MTHFD1-006 ENSP00000476468
ENST00000557539
V9GY75
Show all »
Show » Show » 68 7.3 No 0
MTHFD1-014 ENSP00000477199
ENST00000557370
V9GYY3
Show all »
Show » Show » 107 11.5 No 0
MTHFD1-015 ENSP00000477359
ENST00000554739
V9GZ32
Show all »
Show » Show » 23 2.6 No 0
MTHFD1-019 ENSP00000216605
ENST00000216605
P11586
Show all »
Show » Show » 935 101.5 No 0