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Entry version 152 (16 Oct 2019)
Sequence version 1 (05 Jul 2004)
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Protein

Monofunctional C1-tetrahydrofolate synthase, mitochondrial

Gene

MTHFD1L

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

May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2.By similarity1 Publication

Miscellaneous

May participate in the progression of colorectal cancer by conferring growth advantage. Could be a new molecular target for cancer therapy.

Caution

This enzyme lacks methylenetetrahydrofolate dehydrogenase (EC 1.5.1.5) and ethenyltetrahydrofolate cyclohydrolase (EC 3.5.4.9) activities. An enzyme performing these two complementary activities has not been found in adult mitochondrial tissues; MTHFD2, which performs these two activities, was found in developing tissues only.Curated
Was originally thought to be a trifunctional enzyme but only a formyltetrahydrofolate synthetase activity was detected and not a dehydrogenase/cyclohydrogenase activity.1 Publication

<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 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=500 µM for THF monoglutamate1 Publication
  2. KM=16 µM for THF triglutamate1 Publication
  3. KM=3.6 µM for THF pentaglutamate1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: tetrahydrofolate interconversion

    This protein is involved in the pathway tetrahydrofolate interconversion, which is part of One-carbon metabolism.
    View all proteins of this organism that are known to be involved in the pathway tetrahydrofolate interconversion and in One-carbon metabolism.

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 bindingi423 – 430ATPBy similarity8

    <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

    <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 functionLigase
    Biological processOne-carbon metabolism
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    6.3.4.3 2681

    Reactome - a knowledgebase of biological pathways and processes

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

    UniPathway: a resource for the exploration and annotation of metabolic pathways

    More...
    UniPathwayi
    UPA00193

    <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:
    Monofunctional C1-tetrahydrofolate synthase, mitochondrial (EC:6.3.4.3)
    Alternative name(s):
    Formyltetrahydrofolate synthetase
    <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:MTHFD1L
    Synonyms:FTHFSDC1
    <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 6

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:21055 MTHFD1L

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    611427 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q6UB35

    <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 & Seán O’Donoghue; 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

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    25902

    Open Targets

    More...
    OpenTargetsi
    ENSG00000120254

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA134927803

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    Q6UB35

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    MTHFD1L

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    74749360

    <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 – 31Mitochondrion1 PublicationAdd BLAST31
    <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_000034317732 – 978Monofunctional C1-tetrahydrofolate synthase, mitochondrialAdd BLAST947

    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 residuei189N6-acetyllysine; alternateCombined sources1
    Modified residuei189N6-succinyllysine; alternateBy similarity1
    Modified residuei357PhosphoserineCombined sources1
    Modified residuei596N6-succinyllysineBy similarity1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q6UB35

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q6UB35

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    Q6UB35

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q6UB35

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

    More...
    PaxDbi
    Q6UB35

    PeptideAtlas

    More...
    PeptideAtlasi
    Q6UB35

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q6UB35

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    67402 [Q6UB35-1]
    67403 [Q6UB35-2]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q6UB35

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

    More...
    PhosphoSitePlusi
    Q6UB35

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    Q6UB35

    <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 a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Detected in most tissues, highest expression found in placenta, thymus and brain. Low expression is found in liver and skeletal muscle. Up-regulated in colon adenocarcinoma.2 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000120254 Expressed in 182 organ(s), highest expression level in left coronary artery

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q6UB35 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q6UB35 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA015006
    HPA029040
    HPA029041
    HPA050052
    HPA074911

    <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

    GO - Molecular functioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    117409, 54 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    Q6UB35, 28 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q6UB35

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000478253

    <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

    3D structure databases

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

    More...
    SMRi
    Q6UB35

    Database of comparative protein structure models

    More...
    ModBasei
    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>Regioni31 – 348Methylenetetrahydrofolate dehydrogenase and cyclohydrolaseAdd BLAST318
    Regioni349 – 978Formyltetrahydrofolate synthetaseAdd BLAST630

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi34 – 42Poly-Gly9

    <p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

    This monofunctional enzyme consists of two major domains: an N-terminal inactive methylene-THF dehydrogenase and cyclohydrolase domain and an active larger formyl-THF synthetase C-terminal domain.

    <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

    In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.Curated
    In the C-terminal section; belongs to the formate--tetrahydrofolate ligase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG4230 Eukaryota
    COG0190 LUCA
    COG2759 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000157477

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q6UB35

    KEGG Orthology (KO)

    More...
    KOi
    K13402

    Database of Orthologous Groups

    More...
    OrthoDBi
    690393at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q6UB35

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF300623

    Family and domain databases

    HAMAP database of protein families

    More...
    HAMAPi
    MF_01543 FTHFS, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR000559 Formate_THF_ligase
    IPR020628 Formate_THF_ligase_CS
    IPR036291 NAD(P)-bd_dom_sf
    IPR027417 P-loop_NTPase
    IPR000672 THF_DH/CycHdrlase
    IPR020630 THF_DH/CycHdrlase_cat_dom
    IPR020631 THF_DH/CycHdrlase_NAD-bd_dom

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF01268 FTHFS, 1 hit
    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
    SSF52540 SSF52540, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00721 FTHFS_1, 1 hit
    PS00722 FTHFS_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>. The information is filed in different subsections. The current subsections and their content are listed below:<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 8 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q6UB35-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
    MGTRLPLVLR QLRRPPQPPG PPRRLRVPCR ASSGGGGGGG GGREGLLGQR
    60 70 80 90 100
    RPQDGQARSS CSPGGRTPAA RDSIVREVIQ NSKEVLSLLQ EKNPAFKPVL
    110 120 130 140 150
    AIIQAGDDNL MQEINQNLAE EAGLNITHIC LPPDSSEAEI IDEILKINED
    160 170 180 190 200
    TRVHGLALQI SENLFSNKVL NALKPEKDVD GVTDINLGKL VRGDAHECFV
    210 220 230 240 250
    SPVAKAVIEL LEKSGVNLDG KKILVVGAHG SLEAALQCLF QRKGSMTMSI
    260 270 280 290 300
    QWKTRQLQSK LHEADIVVLG SPKPEEIPLT WIQPGTTVLN CSHDFLSGKV
    310 320 330 340 350
    GCGSPRIHFG GLIEEDDVIL LAAALRIQNM VSSGRRWLRE QQHRRWRLHC
    360 370 380 390 400
    LKLQPLSPVP SDIEISRGQT PKAVDVLAKE IGLLADEIEI YGKSKAKVRL
    410 420 430 440 450
    SVLERLKDQA DGKYVLVAGI TPTPLGEGKS TVTIGLVQAL TAHLNVNSFA
    460 470 480 490 500
    CLRQPSQGPT FGVKGGAAGG GYAQVIPMEE FNLHLTGDIH AITAANNLLA
    510 520 530 540 550
    AAIDTRILHE NTQTDKALYN RLVPLVNGVR EFSEIQLARL KKLGINKTDP
    560 570 580 590 600
    STLTEEEVSK FARLDIDPST ITWQRVLDTN DRFLRKITIG QGNTEKGHYR
    610 620 630 640 650
    QAQFDIAVAS EIMAVLALTD SLADMKARLG RMVVASDKSG QPVTADDLGV
    660 670 680 690 700
    TGALTVLMKD AIKPNLMQTL EGTPVFVHAG PFANIAHGNS SVLADKIALK
    710 720 730 740 750
    LVGEEGFVVT EAGFGADIGM EKFFNIKCRA SGLVPNVVVL VATVRALKMH
    760 770 780 790 800
    GGGPSVTAGV PLKKEYTEEN IQLVADGCCN LQKQIQITQL FGVPVVVALN
    810 820 830 840 850
    VFKTDTRAEI DLVCELAKRA GAFDAVPCYH WSVGGKGSVD LARAVREAAS
    860 870 880 890 900
    KRSRFQFLYD VQVPIVDKIR TIAQAVYGAK DIELSPEAQA KIDRYTQQGF
    910 920 930 940 950
    GNLPICMAKT HLSLSHQPDK KGVPRDFILP ISDVRASIGA GFIYPLVGTM
    960 970
    STMPGLPTRP CFYDIDLDTE TEQVKGLF
    Length:978
    Mass (Da):105,790
    Last modified:July 5, 2004 - v1
    <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:i7D655CD8D2503378
    GO
    Isoform 2 (identifier: Q6UB35-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         261-275: LHEADIVVLGSPKPE → TESRSVTRLECRRVI
         276-978: Missing.

    Show »
    Length:275
    Mass (Da):29,804
    Checksum:iAA044C3A5C698249
    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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    B7ZM99B7ZM99_HUMAN
    MTHFD1L protein
    MTHFD1L
    979Annotation score:

    Annotation score:2 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>
    A0A087WVM4A0A087WVM4_HUMAN
    Monofunctional C1-tetrahydrofolate ...
    MTHFD1L
    913Annotation 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>
    H0Y327H0Y327_HUMAN
    Monofunctional C1-tetrahydrofolate ...
    MTHFD1L
    332Annotation 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>
    Q4VXM0Q4VXM0_HUMAN
    Monofunctional C1-tetrahydrofolate ...
    MTHFD1L
    92Annotation 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>
    Q4VXM1Q4VXM1_HUMAN
    Monofunctional C1-tetrahydrofolate ...
    MTHFD1L
    57Annotation 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>
    Q4VXV2Q4VXV2_HUMAN
    Monofunctional C1-tetrahydrofolate ...
    MTHFD1L
    96Annotation 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>
    Q5JYA3Q5JYA3_HUMAN
    Monofunctional C1-tetrahydrofolate ...
    MTHFD1L
    114Annotation 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>
    Q5JYA8Q5JYA8_HUMAN
    Monofunctional C1-tetrahydrofolate ...
    MTHFD1L
    108Annotation 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 AAH08629 differs from that shown. Reason: Erroneous initiation.Curated
    The sequence BAB15009 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 conflicti79I → V in AAI10320 (PubMed:15489334).Curated1
    Sequence conflicti870R → M in BAB15009 (PubMed:14702039).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_044346444L → R in a colorectal cancer sample; somatic mutation. 1 Publication1

    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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_034565261 – 275LHEAD…SPKPE → TESRSVTRLECRRVI in isoform 2. 1 PublicationAdd BLAST15
    Alternative sequenceiVSP_034566276 – 978Missing in isoform 2. 1 PublicationAdd BLAST703

    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
    AY374130 mRNA Translation: AAQ82696.1
    AY374131 mRNA Translation: AAQ82697.1
    AB127387 mRNA Translation: BAD93193.1
    CH471051 Genomic DNA Translation: EAW47762.1
    AL035086 Genomic DNA No translation available.
    AL133260 Genomic DNA No translation available.
    AL049694 Genomic DNA No translation available.
    AL117452 mRNA Translation: CAB55934.1
    BC008629 mRNA Translation: AAH08629.1 Different initiation.
    BC017477 mRNA Translation: AAH17477.2
    BC110319 mRNA Translation: AAI10320.1
    AK024798 mRNA Translation: BAB15009.1 Different initiation.

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS5228.1 [Q6UB35-1]
    CCDS56457.1 [Q6UB35-2]

    Protein sequence database of the Protein Information Resource

    More...
    PIRi
    T17244

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001229696.1, NM_001242767.1
    NP_001229697.1, NM_001242768.1
    NP_001229698.1, NM_001242769.1 [Q6UB35-2]
    NP_056255.2, NM_015440.4 [Q6UB35-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000367307; ENSP00000356276; ENSG00000120254 [Q6UB35-2]
    ENST00000367321; ENSP00000356290; ENSG00000120254 [Q6UB35-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    25902

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:25902

    UCSC genome browser

    More...
    UCSCi
    uc003qoa.4 human [Q6UB35-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <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
    AY374130 mRNA Translation: AAQ82696.1
    AY374131 mRNA Translation: AAQ82697.1
    AB127387 mRNA Translation: BAD93193.1
    CH471051 Genomic DNA Translation: EAW47762.1
    AL035086 Genomic DNA No translation available.
    AL133260 Genomic DNA No translation available.
    AL049694 Genomic DNA No translation available.
    AL117452 mRNA Translation: CAB55934.1
    BC008629 mRNA Translation: AAH08629.1 Different initiation.
    BC017477 mRNA Translation: AAH17477.2
    BC110319 mRNA Translation: AAI10320.1
    AK024798 mRNA Translation: BAB15009.1 Different initiation.
    CCDSiCCDS5228.1 [Q6UB35-1]
    CCDS56457.1 [Q6UB35-2]
    PIRiT17244
    RefSeqiNP_001229696.1, NM_001242767.1
    NP_001229697.1, NM_001242768.1
    NP_001229698.1, NM_001242769.1 [Q6UB35-2]
    NP_056255.2, NM_015440.4 [Q6UB35-1]

    3D structure databases

    SMRiQ6UB35
    ModBaseiSearch...

    Protein-protein interaction databases

    BioGridi117409, 54 interactors
    IntActiQ6UB35, 28 interactors
    MINTiQ6UB35
    STRINGi9606.ENSP00000478253

    PTM databases

    iPTMnetiQ6UB35
    PhosphoSitePlusiQ6UB35
    SwissPalmiQ6UB35

    Polymorphism and mutation databases

    BioMutaiMTHFD1L
    DMDMi74749360

    Proteomic databases

    EPDiQ6UB35
    jPOSTiQ6UB35
    MassIVEiQ6UB35
    MaxQBiQ6UB35
    PaxDbiQ6UB35
    PeptideAtlasiQ6UB35
    PRIDEiQ6UB35
    ProteomicsDBi67402 [Q6UB35-1]
    67403 [Q6UB35-2]

    Genome annotation databases

    EnsembliENST00000367307; ENSP00000356276; ENSG00000120254 [Q6UB35-2]
    ENST00000367321; ENSP00000356290; ENSG00000120254 [Q6UB35-1]
    GeneIDi25902
    KEGGihsa:25902
    UCSCiuc003qoa.4 human [Q6UB35-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    25902
    DisGeNETi25902

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    MTHFD1L
    HGNCiHGNC:21055 MTHFD1L
    HPAiHPA015006
    HPA029040
    HPA029041
    HPA050052
    HPA074911
    MIMi611427 gene
    neXtProtiNX_Q6UB35
    OpenTargetsiENSG00000120254
    PharmGKBiPA134927803

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG4230 Eukaryota
    COG0190 LUCA
    COG2759 LUCA
    GeneTreeiENSGT00940000157477
    InParanoidiQ6UB35
    KOiK13402
    OrthoDBi690393at2759
    PhylomeDBiQ6UB35
    TreeFamiTF300623

    Enzyme and pathway databases

    UniPathwayiUPA00193
    BRENDAi6.3.4.3 2681
    ReactomeiR-HSA-196757 Metabolism of folate and pterines

    Miscellaneous databases

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

    More...
    ChiTaRSi
    MTHFD1L human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    MTHFD1L

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

    More...
    GenomeRNAii
    25902
    PharosiQ6UB35

    Protein Ontology

    More...
    PROi
    PR:Q6UB35

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000120254 Expressed in 182 organ(s), highest expression level in left coronary artery
    ExpressionAtlasiQ6UB35 baseline and differential
    GenevisibleiQ6UB35 HS

    Family and domain databases

    HAMAPiMF_01543 FTHFS, 1 hit
    InterProiView protein in InterPro
    IPR000559 Formate_THF_ligase
    IPR020628 Formate_THF_ligase_CS
    IPR036291 NAD(P)-bd_dom_sf
    IPR027417 P-loop_NTPase
    IPR000672 THF_DH/CycHdrlase
    IPR020630 THF_DH/CycHdrlase_cat_dom
    IPR020631 THF_DH/CycHdrlase_NAD-bd_dom
    PfamiView protein in Pfam
    PF01268 FTHFS, 1 hit
    PF00763 THF_DHG_CYH, 1 hit
    PF02882 THF_DHG_CYH_C, 1 hit
    PRINTSiPR00085 THFDHDRGNASE
    SUPFAMiSSF51735 SSF51735, 1 hit
    SSF52540 SSF52540, 1 hit
    PROSITEiView protein in PROSITE
    PS00721 FTHFS_1, 1 hit
    PS00722 FTHFS_2, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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 nameiC1TM_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: Q6UB35
    Secondary accession number(s): Q2TBF3
    , Q8WVW0, Q96HG8, Q9H789, Q9UFU8
    <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: July 1, 2008
    Last sequence update: July 5, 2004
    Last modified: October 16, 2019
    This is version 152 of the entry and version 1 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

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    UniProt is an ELIXIR core data resource
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