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MTHFD1L Gene

protein-coding   GIFtS: 60
GCID: GC06P151186

Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent)...

(Previous name: formyltetrahydrofolate synthetase domain containing 1)
(Previous symbol: FTHFSDC1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1-Like1 2     mitochondrial1
FTHFSDC11 2 3     Mitochondrial C1-Tetrahydrofolate Synthase1
Formyltetrahydrofolate Synthetase Domain Containing 11 2     Monofunctional C1-Tetrahydrofolate Synthase1
10-Formyl-THF Synthetase1 2     dJ292B18.22
EC 6.3.4.33 8     Monofunctional C1-Tetrahydrofolate Synthase, Mitochondrial2
MTC1THFS2 5     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include methenyltetrahydrofolate cyclohydrolase activity and protein homodimerization activity. An important paralog of this gene is MTHFD2.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   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 Chromatin IP Primers for MTHFD1L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys727
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MTHFD1L (Q6UB35) (see all 23)
     ANNLLAA  PICMAKT  LMQTLEG  SIGAGFI 


    See MTHFD1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected 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


    Find genes that share domains with MTHFD1L           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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
         
    Find genes that share ontologies with MTHFD1L           About GenesLikeMe


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

    Find genes that share phenotypes with MTHFD1L           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MTHFD1L

    miRNA
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    miRTarBase miRNAs that target MTHFD1L:
    hsa-mir-887-3p (MIRT036804), hsa-mir-484 (MIRT041690), hsa-mir-16-5p (MIRT031875), hsa-mir-615-3p (MIRT040048)

    Block miRNA regulation of human, mouse, rat MTHFD1L using miScript Target Protectors
    5 qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat MTHFD1L

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    C1TM_HUMAN, Q6UB35: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with MTHFD1L           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MTHFD1L About    
    See pathways by source

    SuperPathContained pathways About
    1One carbon pool by folate
    One carbon pool by folate0.53
    Trans-sulfuration and one carbon metabolism0.43
    One Carbon Metabolism0.53
    2Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with MTHFD1L           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for MTHFD1L
        One Carbon Metabolism
    Trans-sulfuration and 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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MTHFD1L
    Interactions:

        Search GeneGlobe Interaction Network for MTHFD1L

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

    Selected Interacting proteins for MTHFD1L (Q6UB351, 3 ENSP000003562904) via UniProtKB, MINT, STRING, and/or I2D (see all 105)

    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): Selected biological process terms (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--

    Find genes that share ontologies with MTHFD1L           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MTHFD1L (C1TM)

    Selected 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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)
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    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 

    Selected AceView cDNA sequences (see all 195):

    AA478842 AL117452 AI860607 BE349394 BM473651 BQ936036 CA444310 AW135145 
    BF056470 AI991562 AI085684 BQ018601 AI225124 BM973193 BF515623 BU859316 
    AI498814 AI652460 CB111131 AA247723 BF114891 AW593866 BF434389 NM_015440 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MTHFD1L expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
             Metanephros
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
    MTHFD1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTHFD1L Protein Expression

    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

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    In Situ
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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MTHFD1L gene from Selected species (see all 17)    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_172308.41  NP_758512.31 
     39731185 
    chicken
    (Gallus gallus)
    Aves MTHFD1L1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) more 74.02(n)
    76.16(a)
      421633  XM_004935618.1  XP_004935675.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTHFD1L6
    methylenetetrahydrofolate dehydrogenase (NADP+ dep...
    68(a)
    1 ↔ 1
    GL343259.1(791994-943117)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mthfd1l1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) more 72.9(n)
    77.42(a)
      100145211  NM_001126699.1  NP_001120171.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mthfd1l1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) more 67.71(n)
    69.71(a)
      100034522  NM_001242996.1  NP_001229925.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADE36
    Cytoplasmic trifunctional enzyme C1-tetrahydrofola...
    49(a)
    1 → many
    VII(905934-908774) YGR204W
    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)
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    Paralogs for MTHFD1L gene
    MTHFD22  MTHFD2L2  MTHFD12  
    4 SIMAP similar genes for MTHFD1L using alignment to 11 protein entries:     C1TM_HUMAN (see all proteins):
    bA251O17.4    MTHFD1    MTHFD2    MTHFD2L

    Find genes that share paralogs with MTHFD1L           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MTHFD1L (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) Selected 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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 611427    OMIM disorders: --


    Find genes that share disorders with MTHFD1L           About GenesLikeMe

    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

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    PubMed articles for MTHFD1L gene, integrated from 10 sources (see all 47):
    (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. (Biochem. Biophys. Res. Commun. 2004)
    2. Mitochondrial methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetases. (PubMed id 18804703)1, 3, 9 Christensen K.E. and Mackenzie R.E. (Vitam. Horm. 2008)
    3. Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase. (PubMed id 16171773)1, 2, 9 Walkup A.S. and Appling D.R. (Arch. Biochem. Biophys. 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. (J. Biol. Chem. 2003)
    5. Additive effect of multiple genetic variants on the risk of coronary artery disease. (PubMed id 20738937)1, 4 LluA-s-Ganella C....Elosua R. (Rev Esp Cardiol 2010)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. 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. (PubMed id 19955471)1, 4 Bressler J....Boerwinkle E. (Am. J. Epidemiol. 2010)
    8. Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. (PubMed id 20885792)1, 4 Naj A.C....Pericak-Vance M.A. (PLoS Genet. 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (Hum. Mutat. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 25902 HGNC: 21055 AceView: FTHFSDC1 Ensembl:ENSG00000120254 euGenes: HUgn25902
    ECgene: MTHFD1L Kegg: 25902 H-InvDB: MTHFD1L

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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