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MTHFD1
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  • MTHFD1
PROTEIN STRUCTURE
ANTIBODIES
AND
VALIDATION
Protein structures
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

MTHFD1
Synonyms MTHFC, MTHFD
Gene descriptioni

Full gene name according to HGNC.

Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Read more
Human disease related genes
Metabolic proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Read more
Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 14
Cytoband q23.3
Chromosome location (bp) 64388031 - 64463457
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

8
Ensembl ENSG00000100714 (version 103.38)
Entrez gene 4522
HGNC HGNC:7432
UniProt
neXtProt
Antibodypedia MTHFD1 antibodies


PROTEIN STRUCTUREi

The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).

In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl

Read more


PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
MTHFD1-201
MTHFD1-207
MTHFD1-208
MTHFD1-214
MTHFD1-215
MTHFD1-219
MTHFD1-220
MTHFD1-222


PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant UniProt Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
MTHFD1-201
ENSP00000438588
ENST00000545908
F5H2F4 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
Show all
Metabolic proteins
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
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:0005829 [cytosol]
GO:0006164 [purine nucleotide biosynthetic process]
GO:0006555 [methionine metabolic process]
GO:0006730 [one-carbon metabolic process]
GO:0007507 [heart development]
GO:0009069 [serine family amino acid metabolic process]
GO:0009257 [10-formyltetrahydrofolate biosynthetic process]
GO:0016787 [hydrolase activity]
GO:0016874 [ligase activity]
GO:0019346 [transsulfuration]
GO:0035999 [tetrahydrofolate interconversion]
GO:0055114 [oxidation-reduction process]
GO:0061053 [somite development]
Show all
964 aa
104.7 kDa
No 0
MTHFD1-207
ENSP00000477359
ENST00000554739
V9GZ32 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
23 aa
2.6 kDa
No 0
MTHFD1-208
ENSP00000477501
ENST00000554768
V9GZ78 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
Show all
Metabolic proteins
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003824 [catalytic activity]
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004477 [methenyltetrahydrofolate cyclohydrolase activity]
GO:0004486 [methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0006730 [one-carbon metabolic process]
GO:0016787 [hydrolase activity]
GO:0016874 [ligase activity]
GO:0035999 [tetrahydrofolate interconversion]
GO:0055114 [oxidation-reduction process]
Show all
854 aa
92.6 kDa
No 0
MTHFD1-214
ENSP00000477199
ENST00000557370
V9GYY3 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
Show all
Metabolic proteins
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003824 [catalytic activity]
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004477 [methenyltetrahydrofolate cyclohydrolase activity]
GO:0004486 [methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0006730 [one-carbon metabolic process]
GO:0016787 [hydrolase activity]
GO:0016874 [ligase activity]
GO:0035999 [tetrahydrofolate interconversion]
GO:0055114 [oxidation-reduction process]
Show all
922 aa
99.7 kDa
No 0
MTHFD1-215
ENSP00000476468
ENST00000557539
V9GY75 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0055114 [oxidation-reduction process]
Show all
68 aa
7.3 kDa
No 0
MTHFD1-219
ENSP00000498649
ENST00000652179
V9GZ78 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
Show all
Metabolic proteins
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003824 [catalytic activity]
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004477 [methenyltetrahydrofolate cyclohydrolase activity]
GO:0004486 [methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0006730 [one-carbon metabolic process]
GO:0016787 [hydrolase activity]
GO:0016874 [ligase activity]
GO:0035999 [tetrahydrofolate interconversion]
GO:0055114 [oxidation-reduction process]
Show all
854 aa
92.6 kDa
No 0
MTHFD1-220
ENSP00000498336
ENST00000652337
A0A384N5Y3 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
Show all
Metabolic proteins
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003824 [catalytic activity]
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004477 [methenyltetrahydrofolate cyclohydrolase activity]
GO:0004486 [methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0006730 [one-carbon metabolic process]
GO:0016787 [hydrolase activity]
GO:0016874 [ligase activity]
GO:0035999 [tetrahydrofolate interconversion]
GO:0055114 [oxidation-reduction process]
Show all
935 aa
101.5 kDa
No 0
MTHFD1-222
ENSP00000499176
ENST00000652509
A0A494C1T2 [Direct mapping]
C-1-tetrahydrofolate synthase, cytoplasmic
Show all
Metabolic proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003824 [catalytic activity]
GO:0004329 [formate-tetrahydrofolate ligase activity]
GO:0004488 [methylenetetrahydrofolate dehydrogenase (NADP+) activity]
GO:0005524 [ATP binding]
GO:0006730 [one-carbon metabolic process]
GO:0016874 [ligase activity]
GO:0035999 [tetrahydrofolate interconversion]
GO:0055114 [oxidation-reduction process]
Show all
644 aa
69.7 kDa
No 0

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