Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MTHFD1L Gene

protein-coding   GIFtS: 59
GCID: GC06P151186

Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent)...

(Previous name: formyltetrahydrofolate synthetase domain containing 1)
(Previous symbol: FTHFSDC1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1-Like1 2     Mitochondrial C1-Tetrahydrofolate Synthase1
FTHFSDC11 2 3     Monofunctional C1-Tetrahydrofolate Synthase1
Formyltetrahydrofolate Synthetase Domain Containing 11 2     MTC1THFS2
10-Formyl-THF Synthetase1 2     dJ292B18.22
EC 6.3.4.33 8     Monofunctional C1-Tetrahydrofolate Synthase, Mitochondrial2
mitochondrial1     Formyltetrahydrofolate Synthetase3

External Ids:    HGNC: 210551   Entrez Gene: 259022   Ensembl: ENSG000001202547   OMIM: 6114275   UniProtKB: Q6UB353   

Export aliases for MTHFD1L gene to outside databases

Previous GC identifers: GC06P151279 GC06P148750


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 neural tube defects, and cleft lip, and among its related super-pathways are One carbon pool by folate and Metabolism. GO annotations related to this gene include methenyltetrahydrofolate cyclohydrolase activity and protein homodimerization activity. An important paralog of this gene is MTHFD1.

UniProtKB/Swiss-Prot: C1TM_HUMAN, Q6UB35
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 (By similarity)

Gene Wiki entry for MTHFD1L Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MTHFD1L gene promoter:
         HOXA3   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   GATA-2   CREB   AREB6   Pax-3   deltaCREB   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTHFD1L promoter sequence
   Search SABiosciences Chromatin IP Primers for MTHFD1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTHFD1L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q25.1   Ensembl cytogenetic band:  6q25.1   HGNC cytogenetic band: 6q25.1

MTHFD1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTHFD1L gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P151186:  view genomic region     (about GC identifiers)

Start:
151,186,685 bp from pter      End:
151,423,023 bp from pter
Size:
236,339 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: C1TM_HUMAN, Q6UB35 (See protein sequence)
Recommended Name: Monofunctional C1-tetrahydrofolate synthase, mitochondrial precursor  
Size: 978 amino acids; 105790 Da
Subunit: Homodimer
Subcellular location: Mitochondrion
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
Caution: Was originally (PubMed:12937168) thought to be a trifunctional enzyme but only a formyltetrahydrofolate
synthetase activity was detected and not a dehydrogenase/cyclohydrogenase activity
Sequence caution: Sequence=AAH08629.1; Type=Erroneous initiation; Sequence=BAB15009.1; Type=Erroneous initiation;
Secondary accessions: Q2TBF3 Q8WVW0 Q96HG8 Q9H789 Q9UFU8
Alternative splicing: 2 isoforms:  Q6UB35-1   Q6UB35-2   

Explore the universe of human proteins at neXtProt for MTHFD1L: NX_Q6UB35

Explore proteomics data for MTHFD1L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6UB35

  • 4/23 DME Specific Peptides for MTHFD1L (Q6UB35) (see all 23)
     ANNLLAA  PICMAKT  LMQTLEG  SIGAGFI 

    MTHFD1L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MTHFD1L Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001229696.1  NP_001229697.1  NP_001229698.1  NP_056255.2  

    ENSEMBL proteins: 
     ENSP00000356290   ENSP00000356277   ENSP00000407070   ENSP00000400776   ENSP00000415039  
     ENSP00000414412   ENSP00000391626   ENSP00000395158   ENSP00000391022   ENSP00000399804  
     ENSP00000356276  

    Human Recombinant Protein Products for MTHFD1L: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for MTHFD1L
    GenScript Custom Purified and Recombinant Proteins Services for MTHFD1L
    Novus Biologicals MTHFD1L Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTHFD1L 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA12937168
    GO:0005829NOT cytosol IBA--

    MTHFD1L for ontologies           About GeneDecksing



    MTHFD1L Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MTHFD1L
    GenScript Custom Superior Antibodies Services for MTHFD1L
    Novus Biologicals MTHFD1L Antibodies
    Abcam antibodies for MTHFD1L
    Cloud-Clone Corp. Antibodies for MTHFD1L 
    ThermoFisher Antibodies for MTHFD1L
    LSBio Antibodies in human, mouse, rat for MTHFD1L 

    Assay Products for MTHFD1L: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MTHFD1L
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MTHFD1L
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MTHFD1L 
    Cloud-Clone Corp. CLIAs for MTHFD1L


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR020631 THF_DH/CycHdrlase_NAD-bd_dom
     IPR020628 Formate_THF_ligase_CS
     IPR027417 P-loop_NTPase
     IPR020630 THF_DH/CycHdrlase_cat_dom
     IPR000559 Formate_THF_ligase

    Graphical View of Domain Structure for InterPro Entry Q6UB35

    ProtoNet protein and cluster: Q6UB35

    2 Blocks protein domains:
    IPB000559 Formate-tetrahydrofolate ligase
    IPB000672 Tetrahydrofolate dehydrogenase/cyclohydrolase


    UniProtKB/Swiss-Prot: C1TM_HUMAN, Q6UB35
    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
    Similarity: In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family
    Similarity: In the C-terminal section; belongs to the formate--tetrahydrofolate ligase family


    MTHFD1L for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C1TM_HUMAN, Q6UB35
    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 (By similarity)
    Catalytic activity: ATP + formate + tetrahydrofolate = ADP + phosphate + 10-formyltetrahydrofolate
    Biophysicochemical properties: Kinetic parameters: KM=500 uM for THF monoglutamate; KM=16 uM for THF triglutamate;
    KM=3.6 uM for THF pentaglutamate;

         Enzyme Number (IUBMB): EC 6.3.4.31 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004329formate-tetrahydrofolate ligase activity IDA12937168
    GO:0004477NOT methenyltetrahydrofolate cyclohydrolase activity IBA--
    GO:0004488NOT methylenetetrahydrofolate dehydrogenase (NADP+) activity IBA--
    GO:0005524ATP binding IDA16171773
         
    MTHFD1L for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mthfd1l):
     craniofacial  embryogenesis  growth/size  mortality/aging  nervous system 

    MTHFD1L for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MTHFD1L 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MTHFD1L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTHFD1L 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MTHFD1L 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTHFD1L
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate MTHFD1L:
    hsa-miR-515-5p hsa-miR-9 hsa-miR-607 hsa-miR-519e* hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidMTHFD1L 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MTHFD1L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTHFD1L

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MTHFD1L
    Sirion Biotech Customized adenovirus for overexpression of MTHFD1L

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MTHFD1L (see all 10)
    OriGene ORF clones in mouse, rat for MTHFD1L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MTHFD1L (NM_015440)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTHFD1L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTHFD1L
    Sirion Biotech Customized lentivirus for stable overexpression of MTHFD1L 
                         Customized lentivirus expression plasmids for stable overexpression of MTHFD1L 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MTHFD1L
    Search LifeMap BioReagents cell lines for MTHFD1L
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTHFD1L


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MTHFD1L About                                                                                                See pathways by source

    SuperPathContained pathways About
    1One Carbon Metabolism
    One Carbon Metabolism0.53
    One carbon pool by folate0.53
    2Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MTHFD1L
        One Carbon Metabolism


    2         Kegg Pathways  (Kegg details for MTHFD1L):
        One carbon pool by folate
    Metabolic pathways

    UniProtKB/Swiss-Prot: C1TM_HUMAN, Q6UB35
    Pathway: One-carbon metabolism; tetrahydrofolate interconversion


    MTHFD1L for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTHFD1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/51 Interacting proteins for MTHFD1L (Q6UB351, 3 ENSP000003562904) via UniProtKB, MINT, STRING, and/or I2D (see all 51)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASP4P496621, 3, ENSP000003885664EBI-1046835,EBI-1057327 I2D: score=2 STRING: ENSP00000388566
    MAGED1Q9Y5V31, 3, ENSP000003648474EBI-1046835,EBI-716006 I2D: score=2 STRING: ENSP00000364847
    WRAP73Q9P2S51, 3, ENSP000002707084EBI-1046835,EBI-1054904 I2D: score=2 STRING: ENSP00000270708
    WDR8Q9P2S51, 3EBI-1046835,EBI-1054904 I2D: score=2 
    MAP1LC3AQ9H4923, ENSP000003639704I2D: score=1 STRING: ENSP00000363970
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006730one-carbon metabolic process IBA--
    GO:0006760folic acid-containing compound metabolic process IDA12937168
    GO:0009396folic acid-containing compound biosynthetic process IEA--
    GO:0015942formate metabolic process IDA16171773
    GO:0035999tetrahydrofolate interconversion IEA--

    MTHFD1L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTHFD1L (C1TM)

    10/11 HMDB Compounds for MTHFD1L (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    5,10-Methenyltetrahydrofolic acid5,10-Methenyltetrahydrofolate (see all 13)7444-29-3--
    5,10-Methylene-THF5,10-methylene-THF (see all 8)31690-11-6--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Formic acidAdd-F (see all 21)64-18-6--
    N10-Formyl-THF10-formyl-THF (see all 20)2800-34-2--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Tetrahydrofolic acid(6S)-Tetrahydrofolate (see all 10)135-16-0--

    Search CenterWatch for drugs/clinical trials and news about MTHFD1L / C1TM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MTHFD1L gene (4 alternative transcripts): 
    NM_001242767.1  NM_001242768.1  NM_001242769.1  NM_015440.4  

    Unigene Cluster for MTHFD1L:

    Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
    Hs.591343  [show with all ESTs]
    Unigene Representative Sequence: AK127089
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367321(uc011een.2 uc003qob.3 uc021zgs.1 uc021zgt.1 uc003qoc.3)
    ENST00000367308 ENST00000441122 ENST00000423867 ENST00000443074 ENST00000425276
    ENST00000421497 ENST00000478643 ENST00000420192 ENST00000453602 ENST00000450635
    ENST00000367307(uc003qoa.2 uc010kil.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTHFD1L
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate MTHFD1L:
    hsa-miR-515-5p hsa-miR-9 hsa-miR-607 hsa-miR-519e* hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidMTHFD1L 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MTHFD1L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTHFD1L
    Clone
    Products:
         
    OriGene clones in human, mouse for MTHFD1L (see all 10)
    OriGene ORF clones in mouse, rat for MTHFD1L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MTHFD1L (NM_015440)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTHFD1L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTHFD1L
    Sirion Biotech Customized lentivirus for stable overexpression of MTHFD1L 
                         Customized lentivirus expression plasmids for stable overexpression of MTHFD1L 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MTHFD1L
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MTHFD1L
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTHFD1L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTHFD1L

    Additional mRNA sequence: 

    AB127387.1 AF086425.1 AK024798.1 AK127089.1 AK310342.1 AK315378.1 AL117452.1 AY374130.1 
    AY374131.1 BC008629.1 BC017477.1 BC110319.1 BC136685.1 BC144368.1 BC144369.1 

    13 DOTS entries:

    DT.214795  DT.91643525  DT.91765272  DT.101966302  DT.99998411  DT.421788  DT.100802707  DT.309136 
    DT.91765268  DT.95166225  DT.121406710  DT.121406718  DT.121406769 

    24/195 AceView cDNA sequences (see all 195):

    BF434389 NM_015440 BF115241 BF448726 AA973544 AA974288 CB105276 AW298530 
    AY374130 AY374131 BF434308 BG210981 BU581531 N34165 BI094354 AL041803 
    BM052892 AA478842 AL117452 AI860607 BE349394 BM473651 BQ936036 CA444310 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MTHFD1L expression in normal human tissues (normalized intensities)      MTHFD1L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATCTAGAAA
    MTHFD1L Expression
    About this image


    MTHFD1L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/midbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/ventricle   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             sensory organ/ear/inner ear   
     
     Eye (Sensory Organs)
             Retina

    See MTHFD1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTHFD1L

    SOURCE GeneReport for Unigene cluster: Hs.591343

    UniProtKB/Swiss-Prot: C1TM_HUMAN, Q6UB35
    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

        SABiosciences Custom PCR Arrays for MTHFD1L
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MTHFD1L
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MTHFD1L
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTHFD1L
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTHFD1L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTHFD1L

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MTHFD1L gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mthfd1l1 , 5 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) more1, 5 84(n)1
    88.43(a)1
      10 (2.06 cM)5
    2706851  NM_001170785.11  NP_001164256.11 
     39731185 
    chicken
    (Gallus gallus)
    Aves MTHFD1L1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) more 74.28(n)
    76.61(a)
      421633  XM_419672.3  XP_419672.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    66(a)
    1 → many
    GL343259.1(791994-943117)
    zebrafish
    (Danio rerio)
    Actinopterygii mthfd1l1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) more 68.01(n)
    70.29(a)
      100034522  XM_003200705.1  XP_003200753.1 
    worm
    (Caenorhabditis elegans)
    Secernentea K07E3.46
    Protein K07E3.4, isoform b
    68(a)
    1 → many
    X(8080872-8084018)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MIS16
    Mitochondrial C1-tetrahydrofolate synthase, involv...
    46(a)
    1 → many
    II(411054-413981)
    soybean
    (Glycine max)
    eudicotyledons Gma.57962 Transcribed sequence with moderate similarity to protein more 74.18(n)    BI943559.1 
    rice
    (Oryza sativa)
    Liliopsida Os.148422 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 71.13(n)    AK061999.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MTHFD1L gene
    MTHFD12  LOC1009966432  
    5 SIMAP similar genes for MTHFD1L using alignment to 11 protein entries:     C1TM_HUMAN (see all proteins):
    LOC100996643    bA251O17.4    MTHFD1    MTHFD2    MTHFD2L

    MTHFD1L for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for MTHFD1L
    PGOHUM00000242187 PGOHUM00000249619


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5975 SNPs in MTHFD1L are shown (see all 5975)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0443464
    A colorectal cancer sample4--see VAR_0443462 L R mis40--------
    rs1410312801,2
    C,Funtested1151292310(+) GTGTTC/TGTGCA 6 F syn11Minor allele frequency- T:0.00NA 4550
    rs1117067381,2
    C--148770064(+) GGCACA/GTGCCA 4 -- int11Minor allele frequency- G:0.00CSA 1
    rs38324061,2
    C--148783576(+) TTATT-/ATT/  
      ATTATT
    TTCTT
    8 -- cds10--------
    rs723978481,2
    C--148789764(+) CCTCT-/T/TTT 
            
    TTTTT
    6 -- int1 cds10--------
    rs117576981,2
    C,H--148801472(+) ATCCCC/TTTTTT 3 -- int1 trp31Minor allele frequency- T:0.50NA 2
    rs2004469481,2
    C--148835843(+) TTTTT-/TGTTTTT 3 -- int10--------
    rs8034671,2
    C,H--148835844(-) aaaaaA/Caaaaa 3 -- int13Minor allele frequency- C:0.17NA WA 6
    rs1448049671,2
    C--148835844(+) TTTTT-/GTTTTT 3 -- int10--------
    rs111557661,2
    C,A,H--148873398(+) TTTTGG/TGGGGG 3 -- int10--------

    HapMap Linkage Disequilibrium report for MTHFD1L (151186685 - 151423023 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for MTHFD1L (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2732889CNV Deletion23290073
    esv2672856CNV Deletion23128226
    esv2669738CNV Deletion23128226
    esv2732890CNV Deletion23290073
    esv1051422CNV Insertion17803354
    nsv818460CNV Loss17921354
    nsv518529CNV Loss19592680
    nsv519886CNV Loss19592680
    nsv525834CNV Loss19592680
    esv5615CNV Loss19470904


    Human Gene Mutation Database (HGMD): MTHFD1L
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MTHFD1L
    DNA2.0 Custom Variant and Variant Library Synthesis for MTHFD1L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611427    OMIM disorders: --

    14 diseases for MTHFD1L:    About MalaCards
    neural tube defects    cleft lip    colon adenocarcinoma    coronary heart disease
    chronic myeloid leukemia    down syndrome    dementia    atherosclerosis
    myeloid leukemia    pneumonia    adenocarcinoma    alzheimer's disease
    colorectal cancer    leukemia


    MTHFD1L for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): MTHFD1L
    Human Genome Epidemiology (HuGE) Navigator: MTHFD1L (14 documents)

    Export disorders for MTHFD1L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MTHFD1L gene, integrated from 9 sources (see all 46):
    (articles sorted by number of sources associating them with MTHFD1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel mitochondrial C1-tetrahydrofolate synthetase is upregulated in human colon adenocarcinoma. (PubMed id 15013446)1, 2, 9 Sugiura T.... Hirotani K. (2004)
    2. Mitochondrial methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetases. (PubMed id 18804703)1, 3, 9 Christensen K.E. and Mackenzie R.E. (2008)
    3. Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase. (PubMed id 16171773)1, 2, 9 Walkup A.S. and Appling D.R. (2005)
    4. Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls. (PubMed id 12937168)1, 2, 9 Prasannan P.... Appling D.R. (2003)
    5. Additive effect of multiple genetic variants on the r isk of coronary artery disease. (PubMed id 20738937)1, 4 LluA-s-Ganella C....Elosua R. (2010)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    7. Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease i n the atherosclerosis risk in communities study. (PubMed id 19955471)1, 4 Bressler J....Boerwinkle E. (2010)
    8. Dementia revealed: novel chromosome 6 locus for late- onset Alzheimer disease provides genetic evidence for folate-pathway abnormalit ies. (PubMed id 20885792)1, 4 Naj A.C....Pericak-Vance M.A. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency. (PubMed id 19777576)1, 4 Parle-McDermott A....Brody L.C. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 25902 HGNC: 21055 AceView: FTHFSDC1 Ensembl:ENSG00000120254 euGenes: HUgn25902
    ECgene: MTHFD1L Kegg: 25902 H-InvDB: MTHFD1L

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MTHFD1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MTHFD1L gene:
    Search GeneIP for patents involving MTHFD1L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for MTHFD1L  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for MTHFD1L  
     OriGene qSTAR qPCR primer pairs in human, mouse for MTHFD1L   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for MTHFD1L   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MTHFD1L   OriGene Custom Protein Services for MTHFD1L  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MTHFD1L
     QIAGEN SeqTarget long-range PCR primers for resequencing MTHFD1L
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTHFD1L
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTHFD1L
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTHFD1L
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTHFD1L
     GenScript Custom Purified and Recombinant Proteins Services for MTHFD1L GenScript cDNA clones with any tag delivered in your preferred vector for MTHFD1L
     GenScript Custom Assay Services for MTHFD1L GenScript Custom Superior Antibodies Services for MTHFD1L
     GenScript Custom overexpressing Cell Line Services for MTHFD1L CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in MTHFD1L promoter
     Search Chromatin IP Primers for MTHFD1L
     RT2 qPCR Primer Assay in human, mouse, rat MTHFD1L
     Search GNC Networks for MTHFD1L
     SABiosciences Custom PCR Arrays for MTHFD1L
     Search Tocris compounds for MTHFD1L (C1TM)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     MTHFD1L antibodies
     MTHFD1L proteins
     Antibodies for MTHFD1L
     See all of Abcam's Antibodies, Kits and Proteins for MTHFD1L
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for MTHFD1L
     Antibodies for MTHFD1L
     ELISAs for MTHFD1L
     CLIAs for MTHFD1L
     Search LifeMap BioReagents cell lines for MTHFD1L
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTHFD1L
     SwitchGear 3'UTR luciferase reporter plasmids for MTHFD1L
     SwitchGear Promoter luciferase reporter plasmids for MTHFD1L
     ThermoFisher Antibodies for MTHFD1L
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTHFD1L
     inGenious Targeting Laboratory - Custom generated mouse model solutions for MTHFD1L
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MTHFD1L
    Customized:
     lentivirus for stable overexpression of MTHFD1L
     lentivirus expression plasmids for stable overexpression of MTHFD1L
     adenovirus for overexpression of MTHFD1L
     LSBio Antibodies in human, mouse, rat for MTHFD1L
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MTHFD1L gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4