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Aliases for MTHFD1L Gene

Aliases for MTHFD1L Gene

  • Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1-Like 2 3 5
  • Monofunctional C1-Tetrahydrofolate Synthase, Mitochondrial 2 3
  • Formyltetrahydrofolate Synthetase Domain Containing 1 2 3
  • 10-Formyl-THF Synthetase 2 3
  • EC 6.3.4.3 4 61
  • FTHFSDC1 3 4
  • Mitochondrial C1-Tetrahydrofolate Synthase 2
  • Formyltetrahydrofolate Synthetase 4
  • DJ292B18.2 3
  • MTC1THFS 3

External Ids for MTHFD1L Gene

Previous HGNC Symbols for MTHFD1L Gene

  • FTHFSDC1

Previous GeneCards Identifiers for MTHFD1L Gene

  • GC06P151279
  • GC06P151186
  • GC06P148750

Summaries for MTHFD1L Gene

Entrez Gene Summary for MTHFD1L Gene

  • The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]

GeneCards Summary for MTHFD1L Gene

MTHFD1L (Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1-Like) is a Protein Coding gene. Diseases associated with MTHFD1L include Choline Deficiency Disease and Neural Tube Defects. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include protein homodimerization activity and methenyltetrahydrofolate cyclohydrolase activity. An important paralog of this gene is MTHFD1.

UniProtKB/Swiss-Prot for MTHFD1L Gene

  • 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.

Gene Wiki entry for MTHFD1L Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTHFD1L Gene

Genomics for MTHFD1L Gene

Regulatory Elements for MTHFD1L Gene

Enhancers for MTHFD1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F150891 0.8 ENCODE 12.4 +26.9 26872 1.7 DRAP1 CTCF SAP130 ARID4B DEAF1 MAX RAD21 TEAD3 POLR2A ZNF143 ZBTB2 MTHFD1L AKAP12 ARL4AP5
GH06F150817 0.8 ENCODE 11.6 -47.6 -47570 0.2 CTCF SAP130 TEAD4 ARID4B RAD21 TEAD3 ZNF121 GATA3 ZNF143 SMC3 MTHFD1L AKAP12 PDCL3P5 ENSG00000226599
GH06F150861 1.2 Ensembl ENCODE 5.4 -3.5 -3455 1.1 HDAC1 ATF1 PKNOX1 CBX3 ARNT TBL1XR1 GATA2 SCRT2 SIRT6 CREM MTHFD1L PDCL3P5
GH06F150004 1.1 ENCODE 4.8 -860.4 -860398 1.7 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 KLF13 SP3 ULBP1 MTHFD1L RAET1K BTF3P10
GH06F150877 0.9 ENCODE 5.8 +13.0 12990 1.7 ELF3 ATF1 ARID4B ZSCAN9 ZBTB40 RAD21 DNMT3B RARA ZNF143 CREM MTHFD1L ARL4AP5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTHFD1L on UCSC Golden Path with GeneCards custom track

Promoters for MTHFD1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001230765 851 2401 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 FOS

Genomic Location for MTHFD1L Gene

Chromosome:
6
Start:
150,865,549 bp from pter
End:
151,101,887 bp from pter
Size:
236,339 bases
Orientation:
Plus strand

Genomic View for MTHFD1L Gene

Genes around MTHFD1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTHFD1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTHFD1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTHFD1L Gene

Proteins for MTHFD1L Gene

  • Protein details for MTHFD1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UB35-C1TM_HUMAN
    Recommended name:
    Monofunctional C1-tetrahydrofolate synthase, mitochondrial
    Protein Accession:
    Q6UB35
    Secondary Accessions:
    • Q2TBF3
    • Q8WVW0
    • Q96HG8
    • Q9H789
    • Q9UFU8

    Protein attributes for MTHFD1L Gene

    Size:
    978 amino acids
    Molecular mass:
    105790 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • May participate in the progression of colorectal cancer by conferring growth advantage. Could be a new molecular target for cancer therapy.
    SequenceCaution:
    • Sequence=AAH08629.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15009.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MTHFD1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTHFD1L Gene

Selected DME Specific Peptides for MTHFD1L Gene

Q6UB35:
  • GFGNLPIC
  • LMQTLEG
  • SIGAGFI
  • RALKMHGG
  • TMPGLPTRP
  • KFARLDIDP
  • GPFANIAHG
  • PICMAKT
  • TPTPLGEGK
  • VYGAKDIE
  • EKFFNIK
  • PVVVALN
  • NLHLTGD
  • KGGAAGGG
  • HAITAANN
  • VVTEAGFG
  • KTHLSLS
  • FFNIKCR
  • VASEIMA
  • ANNLLAA
  • VATVRALK
  • KDAIKPN
  • HAGPFANIA

Post-translational modifications for MTHFD1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MTHFD1L (MTHFD1L)

Domains & Families for MTHFD1L Gene

Graphical View of Domain Structure for InterPro Entry

Q6UB35

UniProtKB/Swiss-Prot:

C1TM_HUMAN :
  • 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.
  • In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.
Domain:
  • 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.
Family:
  • In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.
  • In the C-terminal section; belongs to the formate--tetrahydrofolate ligase family.
genes like me logo Genes that share domains with MTHFD1L: view

No data available for Gene Families for MTHFD1L Gene

Function for MTHFD1L Gene

Molecular function for MTHFD1L Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=500 uM for THF monoglutamate {ECO:0000269 PubMed:16171773}; KM=16 uM for THF triglutamate {ECO:0000269 PubMed:16171773}; KM=3.6 uM for THF pentaglutamate {ECO:0000269 PubMed:16171773};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + formate + tetrahydrofolate = ADP + phosphate + 10-formyltetrahydrofolate.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for MTHFD1L Gene

Gene Ontology (GO) - Molecular Function for MTHFD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004329 formate-tetrahydrofolate ligase activity IEA,TAS --
GO:0004477 NOT methenyltetrahydrofolate cyclohydrolase activity IBA --
GO:0004488 NOT methylenetetrahydrofolate dehydrogenase (NADP+) activity IEA,IBA --
GO:0005524 ATP binding IEA,IDA 16171773
genes like me logo Genes that share ontologies with MTHFD1L: view
genes like me logo Genes that share phenotypes with MTHFD1L: view

Animal Models for MTHFD1L Gene

MGI Knock Outs for MTHFD1L:

Animal Model Products

  • Taconic Biosciences Mouse Models for MTHFD1L

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTHFD1L Gene

Localization for MTHFD1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTHFD1L Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTHFD1L gene
Compartment Confidence
mitochondrion 5
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MTHFD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 12937168
GO:0005759 mitochondrial matrix TAS --
GO:0005829 NOT cytosol IBA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with MTHFD1L: view

Pathways & Interactions for MTHFD1L Gene

genes like me logo Genes that share pathways with MTHFD1L: view

Pathways by source for MTHFD1L Gene

UniProtKB/Swiss-Prot Q6UB35-C1TM_HUMAN

  • Pathway: One-carbon metabolism; tetrahydrofolate interconversion.

Gene Ontology (GO) - Biological Process for MTHFD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA,ISS --
GO:0006730 one-carbon metabolic process IEA,IBA --
GO:0006760 folic acid-containing compound metabolic process IDA 12937168
GO:0009113 purine nucleobase biosynthetic process IBA --
GO:0009257 10-formyltetrahydrofolate biosynthetic process IBA --
genes like me logo Genes that share ontologies with MTHFD1L: view

No data available for SIGNOR curated interactions for MTHFD1L Gene

Drugs & Compounds for MTHFD1L Gene

(5) Drugs for MTHFD1L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Tetrahydrofolic acid Approved Nutra 0
Formic acid Experimental Pharma 0

(7) Additional Compounds for MTHFD1L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
10-formyltetrahydrofolate
  • 10-Formyl-(6RS)-tetrahydrofolic acid
  • 10-Formyl-H4PteGlu1
  • 10-Formyl-tetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolate
2800-34-2
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyl-THF
  • 5,10-Methenyltetrahydrofolate
  • Anhydro-leucovorin
  • Anhydro-leucovorin a
  • Anhydroleucovorin
7444-29-3
5,10-Methylene-THF
  • (6R)-5,10-methylenetetrahydrofolate
  • 5,10-Methenyltetrahydropteroylglutamate
  • 5,10-Methylene-6-Hydrofolate
  • 5,10-Methylene-6-Hydrofolic acid
  • 5,10-Methylene-THF
31690-11-6
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with MTHFD1L: view

Transcripts for MTHFD1L Gene

Unigene Clusters for MTHFD1L Gene

Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like:
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTHFD1L Gene

No ASD Table

Relevant External Links for MTHFD1L Gene

GeneLoc Exon Structure for
MTHFD1L
ECgene alternative splicing isoforms for
MTHFD1L

Expression for MTHFD1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTHFD1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MTHFD1L Gene

This gene is overexpressed in Artery - Coronary (x6.1).

Protein differential expression in normal tissues from HIPED for MTHFD1L Gene

This gene is overexpressed in Breast (42.7) and Testis (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTHFD1L Gene



Protein tissue co-expression partners for MTHFD1L Gene

NURSA nuclear receptor signaling pathways regulating expression of MTHFD1L Gene:

MTHFD1L

SOURCE GeneReport for Unigene cluster for MTHFD1L Gene:

Hs.591343

mRNA Expression by UniProt/SwissProt for MTHFD1L Gene:

Q6UB35-C1TM_HUMAN
Tissue specificity: 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.
genes like me logo Genes that share expression patterns with MTHFD1L: view

Primer Products

Orthologs for MTHFD1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTHFD1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTHFD1L 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia MTHFD1L 34 35
  • 89.69 (n)
cow
(Bos Taurus)
Mammalia MTHFD1L 34 35
  • 86.97 (n)
mouse
(Mus musculus)
Mammalia Mthfd1l 34 16 35
  • 84 (n)
rat
(Rattus norvegicus)
Mammalia Mthfd1l 34
  • 83.9 (n)
oppossum
(Monodelphis domestica)
Mammalia MTHFD1L 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTHFD1L 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTHFD1L 34 35
  • 74.02 (n)
lizard
(Anolis carolinensis)
Reptilia MTHFD1L 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfd1l 34
  • 72.9 (n)
zebrafish
(Danio rerio)
Actinopterygii mthfd1l 34 35
  • 67.71 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9251 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE3 35
  • 49 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.5796 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.714 34
barley
(Hordeum vulgare)
Liliopsida Hv.10671 34
rice
(Oryza sativa)
Liliopsida Os.14842 34
Species where no ortholog for MTHFD1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MTHFD1L Gene

ENSEMBL:
Gene Tree for MTHFD1L (if available)
TreeFam:
Gene Tree for MTHFD1L (if available)

Paralogs for MTHFD1L Gene

Variants for MTHFD1L Gene

Sequence variations from dbSNP and Humsavar for MTHFD1L Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_044346 A colorectal cancer sample
rs10080459 -- 150,878,139(+) CAGAT(C/G)CCTGT intron-variant
rs1014886 -- 150,964,179(-) TGTCA(A/C)TATTC intron-variant
rs10214731 -- 151,015,234(+) AATTC(C/T)ACCCA intron-variant
rs10457867 -- 150,996,943(+) AAGAG(C/T)CACCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTHFD1L Gene

Variant ID Type Subtype PubMed ID
esv3611242 CNV loss 21293372
esv3611243 CNV loss 21293372
esv3611246 CNV loss 21293372
esv3611249 CNV loss 21293372
esv5615 CNV loss 19470904
nsv1021285 CNV gain 25217958
nsv1121658 CNV deletion 24896259
nsv1124131 CNV deletion 24896259
nsv350123 CNV deletion 16902084
nsv464081 CNV loss 19166990
nsv472062 CNV novel sequence insertion 20440878
nsv478324 CNV novel sequence insertion 20440878
nsv518529 CNV loss 19592680
nsv519886 CNV loss 19592680
nsv523123 CNV loss 19592680
nsv525834 CNV loss 19592680
nsv5540 CNV deletion 18451855
nsv604854 CNV loss 21841781
nsv7978 CNV gain 18304495
esv3611241 CNV gain 21293372
esv3611239 CNV gain 21293372
esv3571467 CNV loss 25503493
esv3540637 CNV deletion 23714750
esv2762620 CNV loss 21179565
esv2759477 CNV gain 17122850
esv2732890 CNV deletion 23290073
esv2732889 CNV deletion 23290073
esv2672856 CNV deletion 23128226
esv2669738 CNV deletion 23128226
esv1051422 CNV insertion 17803354
dgv6162n100 CNV loss 25217958
dgv1229e214 CNV gain 21293372
dgv10964n54 CNV gain 21841781
nsv981196 CNV duplication 23825009
nsv969458 CNV duplication 23825009
nsv965779 CNV duplication 23825009
nsv818460 CNV loss 17921354

Variation tolerance for MTHFD1L Gene

Residual Variation Intolerance Score: 19.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.57; 56.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTHFD1L Gene

Human Gene Mutation Database (HGMD)
MTHFD1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTHFD1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTHFD1L Gene

Disorders for MTHFD1L Gene

MalaCards: The human disease database

(2) MalaCards diseases for MTHFD1L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
choline deficiency disease
  • choline deficiency
neural tube defects
  • spina bifida
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MTHFD1L

Genetic Association Database (GAD)
MTHFD1L
Human Genome Epidemiology (HuGE) Navigator
MTHFD1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTHFD1L
genes like me logo Genes that share disorders with MTHFD1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTHFD1L Gene

Publications for MTHFD1L Gene

  1. Mitochondrial methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetases. (PMID: 18804703) Christensen K.E. … Mackenzie R.E. (Vitam. Horm. 2008) 2 3 22 64
  2. Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase. (PMID: 16171773) Walkup A.S. … Appling D.R. (Arch. Biochem. Biophys. 2005) 3 4 22 64
  3. A novel mitochondrial C1-tetrahydrofolate synthetase is upregulated in human colon adenocarcinoma. (PMID: 15013446) Sugiura T. … Hirotani K. (Biochem. Biophys. Res. Commun. 2004) 3 4 22 64
  4. Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls. (PMID: 12937168) Prasannan P. … Appling D.R. (J. Biol. Chem. 2003) 3 4 22 64
  5. Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study. (PMID: 19955471) Bressler J. … Boerwinkle E. (Am. J. Epidemiol. 2010) 3 46 64

Products for MTHFD1L Gene

Sources for MTHFD1L Gene

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