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Entry version 164 (29 Sep 2021)
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

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6UB35

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000120254

<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

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, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4295869

Genetic variation 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 or proteolytic cleavage.<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

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q6UB35, 1 site, 1 O-linked glycan (1 site)

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 left coronary artery and 198 other tissues

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
ENSG00000120254, Low tissue specificity

<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, 96 interactors

Protein interaction database and analysis system

More...
IntActi
Q6UB35, 32 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000478253

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6UB35, protein

<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>Regioni1 – 71DisorderedSequence analysisAdd BLAST71
Regioni31 – 348Methylenetetrahydrofolate dehydrogenase and cyclohydrolaseAdd BLAST318
Regioni349 – 978Formyltetrahydrofolate synthetaseAdd BLAST630

<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

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157477

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_1011786_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6UB35

Identification of Orthologs from Complete Genome Data

More...
OMAi
CGEIMTM

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

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.300, 2 hits

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
Formyltetrahydrofolate synthetase
MTHFD1L
979Annotation score:

Annotation score:3 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
Formyltetrahydrofolate synthetase
MTHFD1L
913Annotation score:

Annotation score:3 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>
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>
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>
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

<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, 96 interactors
IntActiQ6UB35, 32 interactors
STRINGi9606.ENSP00000478253

Chemistry databases

ChEMBLiCHEMBL4295869

PTM databases

GlyGeniQ6UB35, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ6UB35
PhosphoSitePlusiQ6UB35
SwissPalmiQ6UB35

Genetic variation databases

BioMutaiMTHFD1L
DMDMi74749360

Proteomic databases

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

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
33330, 159 antibodies

The DNASU plasmid repository

More...
DNASUi
25902

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
HPAiENSG00000120254, Low tissue specificity
MIMi611427, gene
neXtProtiNX_Q6UB35
OpenTargetsiENSG00000120254
PharmGKBiPA134927803
VEuPathDBiHostDB:ENSG00000120254

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4230, Eukaryota
GeneTreeiENSGT00940000157477
HOGENOMiCLU_1011786_0_0_1
InParanoidiQ6UB35
OMAiCGEIMTM
OrthoDBi690393at2759
PhylomeDBiQ6UB35
TreeFamiTF300623

Enzyme and pathway databases

UniPathwayiUPA00193
BRENDAi6.3.4.3, 2681
PathwayCommonsiQ6UB35
ReactomeiR-HSA-196757, Metabolism of folate and pterines

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
25902, 16 hits in 1016 CRISPR screens

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, Tbio

Protein Ontology

More...
PROi
PR:Q6UB35
RNActiQ6UB35, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000120254, Expressed in left coronary artery and 198 other tissues
ExpressionAtlasiQ6UB35, baseline and differential
GenevisibleiQ6UB35, HS

Family and domain databases

Gene3Di3.40.50.300, 2 hits
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

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: September 29, 2021
This is version 164 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

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families
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