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Protein

Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial

Gene

MTHFD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Although its dehydrogenase activity is NAD-specific, it can also utilize NADP at a reduced efficiency.1 Publication

Miscellaneous

This NAD-dependent bifunctional enzyme has very different kinetic properties than the larger NADP-dependent trifunctional enzyme and is unique in that it requires formation of an enzyme-magnesium complex to allow binding of NAD.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=202 µM for NAD1 Publication
  2. KM=352 µM for NADP1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei233NAD2 Publications1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi200 – 202NAD2 Publications3

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    • folic acid metabolic process Source: Reactome
    • tetrahydrofolate interconversion Source: GO_Central
    • tetrahydrofolate metabolic process Source: UniProtKB

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionHydrolase, Multifunctional enzyme, Oxidoreductase
    Biological processOne-carbon metabolism
    LigandMagnesium, NAD, NADP

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    1.5.1.15 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-196757 Metabolism of folate and pterines

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    P13995

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial
    Including the following 2 domains:
    NAD-dependent methylenetetrahydrofolate dehydrogenase1 Publication (EC:1.5.1.15)
    Methenyltetrahydrofolate cyclohydrolase (EC:3.5.4.9)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:MTHFD2
    Synonyms:NMDMC
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000065911.11

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:7434 MTHFD2

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    604887 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P13995

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Mitochondrion

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi168D → A: Significant loss of NAD and NADP-dependent dehydrogenase specific activity. 1 Publication1
    Mutagenesisi168D → E: Complete loss of NAD and NADP-dependent dehydrogenase specific activity. 1 Publication1
    Mutagenesisi168D → N: 80% decrease in NAD-dependent dehydrogenase specific activity. 18% decrease in NADP-dependent dehydrogenase specific activity. Reduced affinity for magnesium. 1 Publication1
    Mutagenesisi168D → S: 82% decrease in NAD-dependent dehydrogenase specific activity. 65% decrease in NADP-dependent dehydrogenase specific activity. Reduced affinity for magnesium. 1 Publication1
    Mutagenesisi201R → A, S or K: Complete loss of NAD and NADP-dependent dehydrogenase specific activity. 1 Publication1
    Mutagenesisi225D → A, S or E: Complete loss of NAD and NADP-dependent dehydrogenase specific activity. 1 Publication1
    Mutagenesisi225D → N: 84% decrease in NAD-dependent dehydrogenase specific activity. 36% increase in NADP-dependent dehydrogenase specific activity. Reduced affinity for magnesium. 1 Publication1
    Mutagenesisi233R → A: Significant loss of NAD and NADP-dependent dehydrogenase specific activity. 1 Publication1
    Mutagenesisi233R → K: 50% decrease in NAD and NADP-dependent dehydrogenase specific activity. Reduced affinity for magnesium. 1 Publication1
    Mutagenesisi233R → S: Almost complete loss of NAD-dependent dehydrogenase specific activity. 50% decrease in NADP-dependent dehydrogenase specific activity. 1 Publication1

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    10797

    Open Targets

    More...
    OpenTargetsi
    ENSG00000065911

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA31238

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL3621036

    Drug and drug target database

    More...
    DrugBanki
    DB00157 NADH
    DB00116 Tetrahydrofolic acid

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    MTHFD2

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    115311607

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 35MitochondrionCombined sourcesAdd BLAST35
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003404936 – 350Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrialAdd BLAST315

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei50N6-acetyllysine; alternateCombined sources1
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki50Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources

    Keywords - PTMi

    Acetylation, Isopeptide bond, Ubl conjugation

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    P13995

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    P13995

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    P13995

    PeptideAtlas

    More...
    PeptideAtlasi
    P13995

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P13995

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    53016

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    P13995

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    P13995

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    <p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

    Expressed only in developing normal tissues.

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000065911 Expressed in 228 organ(s), highest expression level in left coronary artery

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_MTHFD2

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P13995 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P13995 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    CAB003684
    HPA049657

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homodimer.1 Publication

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    116011, 31 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P13995, 13 interactors

    Molecular INTeraction database

    More...
    MINTi
    P13995

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000377617

    Chemistry databases

    BindingDB database of measured binding affinities

    More...
    BindingDBi
    P13995

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    Secondary structure

    1350
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    P13995

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...
    SMRi
    P13995

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni84 – 88Substrate binding1 Publication5
    Regioni131 – 133Substrate binding1 Publication3
    Regioni309 – 313Substrate binding1 Publication5

    <p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG0089 Eukaryota
    COG0190 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000154863

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000218242

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG006411

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P13995

    KEGG Orthology (KO)

    More...
    KOi
    K13403

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    AGKLCGD

    Database of Orthologous Groups

    More...
    OrthoDBi
    EOG091G0VB7

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P13995

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF323998

    Family and domain databases

    HAMAP database of protein families

    More...
    HAMAPi
    MF_01576 THF_DHG_CYH, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR036291 NAD(P)-bd_dom_sf
    IPR000672 THF_DH/CycHdrlase
    IPR020630 THF_DH/CycHdrlase_cat_dom
    IPR020867 THF_DH/CycHdrlase_CS
    IPR020631 THF_DH/CycHdrlase_NAD-bd_dom

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR10025 PTHR10025, 1 hit

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00763 THF_DHG_CYH, 1 hit
    PF02882 THF_DHG_CYH_C, 1 hit

    Protein Motif fingerprint database; a protein domain database

    More...
    PRINTSi
    PR00085 THFDHDRGNASE

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF51735 SSF51735, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00766 THF_DHG_CYH_1, 1 hit
    PS00767 THF_DHG_CYH_2, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: P13995-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MAATSLMSAL AARLLQPAHS CSLRLRPFHL AAVRNEAVVI SGRKLAQQIK
    60 70 80 90 100
    QEVRQEVEEW VASGNKRPHL SVILVGENPA SHSYVLNKTR AAAVVGINSE
    110 120 130 140 150
    TIMKPASISE EELLNLINKL NNDDNVDGLL VQLPLPEHID ERRICNAVSP
    160 170 180 190 200
    DKDVDGFHVI NVGRMCLDQY SMLPATPWGV WEIIKRTGIP TLGKNVVVAG
    210 220 230 240 250
    RSKNVGMPIA MLLHTDGAHE RPGGDATVTI SHRYTPKEQL KKHTILADIV
    260 270 280 290 300
    ISAAGIPNLI TADMIKEGAA VIDVGINRVH DPVTAKPKLV GDVDFEGVRQ
    310 320 330 340 350
    KAGYITPVPG GVGPMTVAML MKNTIIAAKK VLRLEEREVL KSKELGVATN
    Length:350
    Mass (Da):37,895
    Last modified:September 19, 2006 - v2
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4DBD263CF7BE28F4
    GO
    Isoform 2 (identifier: P13995-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-102: Missing.

    Show »
    Length:248
    Mass (Da):26,849
    Checksum:iB879A764146114F6
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    B9A062B9A062_HUMAN
    Bifunctional methylenetetrahydrofol...
    MTHFD2
    222Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    B8ZZU9B8ZZU9_HUMAN
    Bifunctional methylenetetrahydrofol...
    MTHFD2
    267Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    F8WF06F8WF06_HUMAN
    Bifunctional methylenetetrahydrofol...
    MTHFD2
    36Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    F8WF89F8WF89_HUMAN
    Bifunctional methylenetetrahydrofol...
    MTHFD2
    37Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

    <p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

    The sequence AAX93061 differs from that shown. Reason: Erroneous initiation.Curated
    The sequence BAD96546 differs from that shown. Reason: Erroneous initiation.Curated
    The sequence BAD96761 differs from that shown. Reason: Erroneous initiation.Curated
    The sequence CAA34431 differs from that shown. Reason: Erroneous initiation.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti75V → A in BAD96546 (Ref. 3) Curated1
    Sequence conflicti95V → A in BAD96761 (Ref. 3) Curated1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0561881 – 102Missing in isoform 2. 2 PublicationsAdd BLAST102

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    X16396 mRNA Translation: CAA34431.1 Different initiation.
    AK300035 mRNA Translation: BAG61846.1
    AK222826 mRNA Translation: BAD96546.1 Different initiation.
    AK223041 mRNA Translation: BAD96761.1 Different initiation.
    AC073263 Genomic DNA Translation: AAX93061.1 Different initiation.
    CH471053 Genomic DNA Translation: EAW99671.1
    CH471053 Genomic DNA Translation: EAW99672.1
    BC001548 mRNA Translation: AAH01548.2
    BC015062 mRNA Translation: AAH15062.1
    BC017054 mRNA Translation: AAH17054.2

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS1935.2 [P13995-1]

    Protein sequence database of the Protein Information Resource

    More...
    PIRi
    S14902 DEHUMT

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_006627.2, NM_006636.3 [P13995-1]
    XP_006711987.1, XM_006711924.2 [P13995-2]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.469030

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000394053; ENSP00000377617; ENSG00000065911 [P13995-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    10797

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:10797

    UCSC genome browser

    More...
    UCSCi
    uc002skk.4 human [P13995-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    X16396 mRNA Translation: CAA34431.1 Different initiation.
    AK300035 mRNA Translation: BAG61846.1
    AK222826 mRNA Translation: BAD96546.1 Different initiation.
    AK223041 mRNA Translation: BAD96761.1 Different initiation.
    AC073263 Genomic DNA Translation: AAX93061.1 Different initiation.
    CH471053 Genomic DNA Translation: EAW99671.1
    CH471053 Genomic DNA Translation: EAW99672.1
    BC001548 mRNA Translation: AAH01548.2
    BC015062 mRNA Translation: AAH15062.1
    BC017054 mRNA Translation: AAH17054.2
    CCDSiCCDS1935.2 [P13995-1]
    PIRiS14902 DEHUMT
    RefSeqiNP_006627.2, NM_006636.3 [P13995-1]
    XP_006711987.1, XM_006711924.2 [P13995-2]
    UniGeneiHs.469030

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...
    PDBei

    Protein Data Bank RCSB

    More...
    RCSB PDBi

    Protein Data Bank Japan

    More...
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    1ZN4model-A/B37-350[»]
    5TC4X-ray1.89A36-350[»]
    ProteinModelPortaliP13995
    SMRiP13995
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi116011, 31 interactors
    IntActiP13995, 13 interactors
    MINTiP13995
    STRINGi9606.ENSP00000377617

    Chemistry databases

    BindingDBiP13995
    ChEMBLiCHEMBL3621036
    DrugBankiDB00157 NADH
    DB00116 Tetrahydrofolic acid

    PTM databases

    iPTMnetiP13995
    PhosphoSitePlusiP13995

    Polymorphism and mutation databases

    BioMutaiMTHFD2
    DMDMi115311607

    Proteomic databases

    EPDiP13995
    MaxQBiP13995
    PaxDbiP13995
    PeptideAtlasiP13995
    PRIDEiP13995
    ProteomicsDBi53016

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    10797
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000394053; ENSP00000377617; ENSG00000065911 [P13995-1]
    GeneIDi10797
    KEGGihsa:10797
    UCSCiuc002skk.4 human [P13995-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    10797
    DisGeNETi10797
    EuPathDBiHostDB:ENSG00000065911.11

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    MTHFD2
    HGNCiHGNC:7434 MTHFD2
    HPAiCAB003684
    HPA049657
    MIMi604887 gene
    neXtProtiNX_P13995
    OpenTargetsiENSG00000065911
    PharmGKBiPA31238

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0089 Eukaryota
    COG0190 LUCA
    GeneTreeiENSGT00940000154863
    HOGENOMiHOG000218242
    HOVERGENiHBG006411
    InParanoidiP13995
    KOiK13403
    OMAiAGKLCGD
    OrthoDBiEOG091G0VB7
    PhylomeDBiP13995
    TreeFamiTF323998

    Enzyme and pathway databases

    BRENDAi1.5.1.15 2681
    ReactomeiR-HSA-196757 Metabolism of folate and pterines
    SABIO-RKiP13995

    Miscellaneous databases

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    MTHFD2 human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    MTHFD2

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    10797

    Protein Ontology

    More...
    PROi
    PR:P13995

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000065911 Expressed in 228 organ(s), highest expression level in left coronary artery
    CleanExiHS_MTHFD2
    ExpressionAtlasiP13995 baseline and differential
    GenevisibleiP13995 HS

    Family and domain databases

    HAMAPiMF_01576 THF_DHG_CYH, 1 hit
    InterProiView protein in InterPro
    IPR036291 NAD(P)-bd_dom_sf
    IPR000672 THF_DH/CycHdrlase
    IPR020630 THF_DH/CycHdrlase_cat_dom
    IPR020867 THF_DH/CycHdrlase_CS
    IPR020631 THF_DH/CycHdrlase_NAD-bd_dom
    PANTHERiPTHR10025 PTHR10025, 1 hit
    PfamiView protein in Pfam
    PF00763 THF_DHG_CYH, 1 hit
    PF02882 THF_DHG_CYH_C, 1 hit
    PRINTSiPR00085 THFDHDRGNASE
    SUPFAMiSSF51735 SSF51735, 1 hit
    PROSITEiView protein in PROSITE
    PS00766 THF_DHG_CYH_1, 1 hit
    PS00767 THF_DHG_CYH_2, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMTDC_HUMAN
    <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P13995
    Secondary accession number(s): Q53G90
    , Q53GV5, Q53S36, Q7Z650
    <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
    Last sequence update: September 19, 2006
    Last modified: December 5, 2018
    This is version 198 of the entry and version 2 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    <p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    2. SIMILARITY comments
      Index of protein domains and families
    3. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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