This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methi... See more...

Aliases for MTHFD1 Gene

Aliases for MTHFD1 Gene

  • Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1 2 3 5
  • Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1, Methenyltetrahydrofolate Cyclohydrolase, Formyltetrahydrofolate Synthetase 2 3
  • C-1-Tetrahydrofolate Synthase, Cytoplasmic 3 4
  • C1-THF Synthase 3 4
  • MTHFC 3 4
  • MTHFD 3 4
  • 5,10-Methylenetetrahydrofolate Dehydrogenase, 5,10-Methylenetetrahydrofolate Cyclohydrolase, 10-Formyltetrahydrofolate Synthetase 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Cytoplasmic C-1-Tetrahydrofolate Synthase 3
  • EC 6.3.4.3 54
  • CIMAH 3

External Ids for MTHFD1 Gene

Previous HGNC Symbols for MTHFD1 Gene

  • MTHFC
  • MTHFD

Previous GeneCards Identifiers for MTHFD1 Gene

  • GC14P062182
  • GC14P058648
  • GC14P062845
  • GC14P063924
  • GC14P064854
  • GC14P045027

Summaries for MTHFD1 Gene

Entrez Gene Summary for MTHFD1 Gene

  • This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]

GeneCards Summary for MTHFD1 Gene

MTHFD1 (Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1) is a Protein Coding gene. Diseases associated with MTHFD1 include Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia and Neural Tube Defects, Folate-Sensitive. Among its related pathways are histidine degradation and One carbon pool by folate. Gene Ontology (GO) annotations related to this gene include formate-tetrahydrofolate ligase activity and methylenetetrahydrofolate dehydrogenase (NADP+) activity. An important paralog of this gene is MTHFD1L.

Gene Wiki entry for MTHFD1 Gene

Additional gene information for MTHFD1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTHFD1 Gene

Genomics for MTHFD1 Gene

GeneHancer (GH) Regulatory Elements for MTHFD1 Gene

Promoters and enhancers for MTHFD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J064386 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 779.4 +0.2 170 4.4 E2F8 SIN3A ZBTB40 SP1 ZBTB6 MLX RBPJ POLR2A USF2 FOS MTHFD1 HSALNG0101882 lnc-ESR2-3 TEX21P AKAP5 ENSG00000259116 MAX
GH14J064363 Enhancer 0.8 Ensembl 24.1 -24.3 -24330 1 SMARCE1 TEAD4 ZKSCAN8 ZNF148 BACH1 SMARCA4 ZNF639 TRIM24 MTA1 GMEB1 ZBTB1 WDR89 MTHFD1 ZBTB25 ENSG00000259116 AKAP5 PPP2R5E ENSG00000271511 piR-50437-180 TEX21P
GH14J064191 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -193.2 -193239 6.8 ZNF24 RELA MAFK BACH1 ZNF687 SMARCA4 PRDM1 IKZF1 GLIS2 RFX1 ESR2 MTHFD1 piR-50308-178 piR-48333 SYNE2
GH14J064390 Enhancer 0.6 ENCODE 28.8 +3.8 3819 1.8 POU5F1 SP1 ZBTB33 RXRA ZNF184 JUND YY1 HNF4A HNF4G REST MTHFD1 AKAP5 ZBTB1 ZBTB25 HSALNG0101882 ENSG00000272909
GH14J064700 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.3 +318.0 318000 10.4 FOXA1 ZBTB6 RBPJ POLR2A NR2F1 NR2F6 CREB1 MYC HLF MAX PLEKHG3 lnc-SPTB-1 MAX ENSG00000214770 PPP1R36 GPX2 CHURC1 SYNE2 MTHFD1 ZBTB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTHFD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTHFD1 gene promoter:
  • CBF-C
  • CP1A
  • CP1C
  • HOXA5
  • NF-Y
  • NF-YA
  • NF-YB
  • NF-YC
  • RFX1
  • STAT5A

Genomic Locations for MTHFD1 Gene

Genomic Locations for MTHFD1 Gene
chr14:64,388,031-64,463,457
(GRCh38/hg38)
Size:
75,427 bases
Orientation:
Plus strand
chr14:64,854,749-64,926,725
(GRCh37/hg19)
Size:
71,977 bases
Orientation:
Plus strand

Genomic View for MTHFD1 Gene

Genes around MTHFD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTHFD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTHFD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTHFD1 Gene

Proteins for MTHFD1 Gene

  • Protein details for MTHFD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11586-C1TC_HUMAN
    Recommended name:
    C-1-tetrahydrofolate synthase, cytoplasmic
    Protein Accession:
    P11586
    Secondary Accessions:
    • B2R5Y2
    • G3V2B8
    • Q86VC9
    • Q9BVP5

    Protein attributes for MTHFD1 Gene

    Size:
    935 amino acids
    Molecular mass:
    101559 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MTHFD1 Gene

neXtProt entry for MTHFD1 Gene

Selected DME Specific Peptides for MTHFD1 Gene

P11586:
  • GGGYSQV
  • GFGNLPIC
  • LMQTLEG
  • RALKMHGG
  • TMPGLPTRP
  • GPFANIAHG
  • PICMAKT
  • RASVGAGF
  • TPTPLGEGK
  • EKFFNIK
  • GIKGGAAG
  • NLHLTGD
  • KGGAAGGG
  • HAITAANN
  • VVTEAGFG
  • KTHLSLS
  • FFNIKCR
  • VASEIMA
  • VATVRALK
  • KDAIKPN
  • HAGPFANIA

Post-translational modifications for MTHFD1 Gene

  • Ubiquitination at Lys58, Lys150, Lys354, Lys370, Lys473, Lys543, Lys588, Lys784, and Lys819
  • Modification sites at PhosphoSitePlus

Domains & Families for MTHFD1 Gene

Gene Families for MTHFD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for MTHFD1 Gene

GenScript: Design optimal peptide antigens:
  • C-1-tetrahydrofolate synthase, cytoplasmic (C1TC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11586

UniProtKB/Swiss-Prot:

C1TC_HUMAN :
  • This trifunctional enzyme consists of two major domains: an N-terminal part containing the methylene-THF dehydrogenase and cyclohydrolase activities and a larger C-terminal part containing formyl-THF synthetase activity.
  • In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.
Domain:
  • This trifunctional enzyme consists of two major domains: an N-terminal part containing the methylene-THF dehydrogenase and cyclohydrolase activities and a larger C-terminal part containing formyl-THF synthetase activity.
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 MTHFD1: view

Function for MTHFD1 Gene

Molecular function for MTHFD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + NADP(+) = 5,10-methenyltetrahydrofolate + NADPH; Xref=Rhea:RHEA:22812, ChEBI:CHEBI:15636, ChEBI:CHEBI:57455, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.5.1.5;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5,10-methenyltetrahydrofolate + H2O = (6S)-10-formyltetrahydrofolate + H(+); Xref=Rhea:RHEA:23700, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57454, ChEBI:CHEBI:57455; EC=3.5.4.9;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6S)-5,6,7,8-tetrahydrofolate + ATP + formate = (6S)-10-formyltetrahydrofolate + ADP + phosphate; Xref=Rhea:RHEA:20221, ChEBI:CHEBI:15740, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57453, ChEBI:CHEBI:57454, ChEBI:CHEBI:456216; EC=6.3.4.3;.
GENATLAS Biochemistry:
folate dependent,trifunctional enzyme catalyzing the oxidation of 5 methy THF for use in purine biosynthesis(see THFC,THFD,THFS)

Enzyme Numbers (IUBMB) for MTHFD1 Gene

Phenotypes From GWAS Catalog for MTHFD1 Gene

Gene Ontology (GO) - Molecular Function for MTHFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004329 formate-tetrahydrofolate ligase activity IEA,ISS --
GO:0004477 methenyltetrahydrofolate cyclohydrolase activity TAS,IDA 1881876
GO:0004486 methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity TAS,IDA 1881876
genes like me logo Genes that share ontologies with MTHFD1: view
genes like me logo Genes that share phenotypes with MTHFD1: view

Human Phenotype Ontology for MTHFD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTHFD1 Gene

MGI Knock Outs for MTHFD1:
  • Mthfd1 Mthfd1<tm2b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for MTHFD1

CRISPR Products

miRNA for MTHFD1 Gene

miRTarBase miRNAs that target MTHFD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTHFD1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for MTHFD1 Gene

Localization for MTHFD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTHFD1 Gene

Cytoplasm.

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 MTHFD1 gene
Compartment Confidence
mitochondrion 4
cytosol 4
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTHFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion TAS 3528153
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with MTHFD1: view

Pathways & Interactions for MTHFD1 Gene

genes like me logo Genes that share pathways with MTHFD1: view

UniProtKB/Swiss-Prot P11586-C1TC_HUMAN

  • Pathway: One-carbon metabolism; tetrahydrofolate interconversion.

Interacting Proteins for MTHFD1 Gene

Gene Ontology (GO) - Biological Process for MTHFD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000105 histidine biosynthetic process IEA --
GO:0001780 neutrophil homeostasis IEA --
GO:0001843 neural tube closure ISS,IEA --
GO:0006164 purine nucleotide biosynthetic process ISS,IEA --
GO:0006555 methionine metabolic process IEA,ISS --
genes like me logo Genes that share ontologies with MTHFD1: view

No data available for SIGNOR curated interactions for MTHFD1 Gene

Drugs & Compounds for MTHFD1 Gene

(16) Drugs for MTHFD1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1757
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
2'-Monophosphoadenosine 5'-Diphosphoribose Experimental Pharma Target 0

(15) Additional Compounds for MTHFD1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
10-formyltetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolic acid
  • 10-Formyl-(6Rs)-tetrahydrofolic acid
  • 10-Formyl-H4pteglu1
  • 10-Formyl-tetrahydrofolate
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
  • (6R)-5,10-Methylenetetrahydrofolic acid
  • 5,10-Methenyltetrahydropteroylglutamate
  • 5,10-Methylene-6-hydrofolate
  • 5,10-Methylene-6-hydrofolic acid
31690-11-6
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with MTHFD1: view

Transcripts for MTHFD1 Gene

mRNA/cDNA for MTHFD1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTHFD1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTHFD1 Gene

No ASD Table

Relevant External Links for MTHFD1 Gene

GeneLoc Exon Structure for
MTHFD1
ECgene alternative splicing isoforms for
MTHFD1

Expression for MTHFD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTHFD1 Gene

mRNA differential expression in normal tissues according to GTEx for MTHFD1 Gene

This gene is overexpressed in Liver (x6.2).

Protein differential expression in normal tissues from HIPED for MTHFD1 Gene

This gene is overexpressed in Liver (10.8) and Lymph node (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTHFD1 Gene



Protein tissue co-expression partners for MTHFD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MTHFD1 Gene:

MTHFD1

SOURCE GeneReport for Unigene cluster for MTHFD1 Gene:

Hs.652308

mRNA Expression by UniProt/SwissProt for MTHFD1 Gene:

P11586-C1TC_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MTHFD1 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Blood(4.5)
  • Eye(4.4)
  • Heart(2.8)
  • Kidney(2.8)
  • Skin(2.6)
  • Lung(2.4)
  • Intestine(2.2)
  • Adrenal gland(2.1)
  • Pancreas(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with MTHFD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTHFD1 Gene

Orthologs for MTHFD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTHFD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTHFD1 33 32
  • 97.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTHFD1 33 32
  • 91.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTHFD1 33 32
  • 89.23 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTHFD1 33
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mthfd1 32
  • 87.88 (n)
mouse
(Mus musculus)
Mammalia Mthfd1 17 33 32
  • 87.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTHFD1 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTHFD1 33 32
  • 75.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTHFD1 33
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mthfd1 32
  • 73.53 (n)
Str.3283 32
African clawed frog
(Xenopus laevis)
Amphibia mthfd1-prov 32
zebrafish
(Danio rerio)
Actinopterygii mthfd1b 33 32
  • 70.35 (n)
OneToMany
mthfd1a 33
  • 57 (a)
OneToMany
mthfd1 32
fruit fly
(Drosophila melanogaster)
Insecta pug 33 34 32
  • 60.06 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002830 32
  • 59.36 (n)
worm
(Caenorhabditis elegans)
Secernentea K07E3.4a 34
  • 70 (a)
K07E3.4b 34
  • 70 (a)
K07E3.4 33 32
  • 64.03 (n)
OneToMany
dao-3 33 34
  • 52 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E16545g 32
  • 59.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE3 33 32
  • 58.17 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL121C 32
  • 56.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons THFS 32
  • 61.49 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7494 32
rice
(Oryza sativa)
Liliopsida Os09g0446800 32
  • 60.42 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.14577 32
corn
(Zea mays)
Liliopsida Zm.13856 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4044 33
  • 69 (a)
OneToOne
Cin.2498 32
bread mold
(Neurospora crassa)
Ascomycetes NCU03877 32
  • 58.32 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC839.16 32
  • 57.71 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2498 32
Species where no ortholog for MTHFD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MTHFD1 Gene

ENSEMBL:
Gene Tree for MTHFD1 (if available)
TreeFam:
Gene Tree for MTHFD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTHFD1: view image

Paralogs for MTHFD1 Gene

Paralogs for MTHFD1 Gene

(4) SIMAP similar genes for MTHFD1 Gene using alignment to 6 proteins:

  • C1TC_HUMAN
  • F5H2F4_HUMAN
  • V9GY75_HUMAN
  • V9GYY3_HUMAN
  • V9GZ32_HUMAN
  • V9GZ78_HUMAN

Pseudogenes.org Pseudogenes for MTHFD1 Gene

genes like me logo Genes that share paralogs with MTHFD1: view

Variants for MTHFD1 Gene

Sequence variations from dbSNP and Humsavar for MTHFD1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs141210410 likely-pathogenic, COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780] 64,417,926(+) C/T coding_sequence_variant, missense_variant
rs1456143398 pathogenic, COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 64,439,172(+) G/A coding_sequence_variant, synonymous_variant
rs1555336810 likely-pathogenic, COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780] 64,411,115(+) T/C coding_sequence_variant, missense_variant
rs1555337681 likely-pathogenic, COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780] 64,424,882(+) C/T coding_sequence_variant, missense_variant
rs1950902 benign, not specified, - 64,415,662(+) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for MTHFD1 Gene

Variant ID Type Subtype PubMed ID
esv2670925 CNV deletion 23128226
esv2748779 CNV deletion 23290073
esv3634752 CNV loss 21293372
nsv1113658 CNV deletion 24896259
nsv476124 CNV novel sequence insertion 20440878

Variation tolerance for MTHFD1 Gene

Residual Variation Intolerance Score: 5.65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.17; 90.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTHFD1 Gene

Human Gene Mutation Database (HGMD)
MTHFD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTHFD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTHFD1 Gene

Disorders for MTHFD1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for MTHFD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C1TC_HUMAN
  • Neural tube defects, folate-sensitive (NTDFS) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269 PubMed:12384833, ECO:0000269 PubMed:16552426, ECO:0000269 PubMed:9611072}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:17000706}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780]: An autosomal recessive disorder due to an inborn error of folate metabolism. Variable clinical manifestations include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, and lymphopenia. {ECO:0000269 PubMed:21813566, ECO:0000269 PubMed:25633902, ECO:0000269 PubMed:27707659}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MTHFD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for MTHFD1 Gene

Publications for MTHFD1 Gene

  1. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. (PMID: 18767138) Christensen KE … Rozen R (Human mutation 2009) 3 4 23 43 56
  2. Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. (PMID: 16552426) Parle-McDermott A … Scott JM (European journal of human genetics : EJHG 2006) 3 4 23 43 56
  3. A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. (PMID: 12384833) Brody LC … Swanson DA (American journal of human genetics 2002) 3 4 23 43 56
  4. MTHFR c.1793G>A polymorphism is associated with congenital cardiac disease in a Chinese population. (PMID: 20374669) Xu J … Chen Y (Cardiology in the young 2010) 3 23 43 56
  5. Polymorphic variants of folate metabolism genes and the risk of laryngeal cancer. (PMID: 19649727) Kruszyna Ł … Jagodziński PP (Molecular biology reports 2010) 3 23 43 56

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Sources for MTHFD1 Gene