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

MTHFD1L Gene

protein-coding   GIFtS: 55
GCID: GC06P151186

methylenetetrahydrofolate dehydrogenase (NADP+ dependent)...

(Previous name: formyltetrahydrofolate synthetase domain containing 1 )
(Previous symbol: FTHFSDC1)
 Explore 16 diseases affiliated with
MTHFD1L via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MTHFD1L    

Aliases
for MTHFD1L gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1-Like1 2     10-Formyl-THF Synthetase2
FTHFSDC11 2 3     MTC1THFS2
Formyltetrahydrofolate Synthetase Domain Containing 11 2     DJ292B18.21
EC 6.3.4.33 8     Monofunctional C1-Tetrahydrofolate Synthase, Mitochondrial2
DKFZP586G15171     Formyltetrahydrofolate Synthetase3
FLJ211451     

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


Summaries
for MTHFD1L gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
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 plasmid: MTHFD1L 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

Proteins
for MTHFD1L gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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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    Uscn Proteins for MTHFD1L

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA12937168
    GO:0005829NOT cytosol IBA--


    MTHFD1L for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MTHFD1L

    Protein Domains /
    Families
    for MTHFD1L gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MTHFD1L for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR020631 THF_DH/CycHdrlase_NAD-bd_dom
     IPR020628 Formate_THF_ligase_CS
     IPR016040 NAD(P)-bd_dom
     IPR000672 THF_DH/CycHdrlase
     IPR020630 THF_DH/CycHdrlase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q6UB35

    ProtoNet protein and cluster: Q6UB35

    2 Blocks protein families:
    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


    Function
    for MTHFD1L gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)
    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

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    In Situ Assay
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    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:0000166nucleotide binding ----
    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


    Animal Models:
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mthfd1l):
     mortality/aging  nervous system 

    MTHFD1L for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MTHFD1L gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1One Carbon Metabolism
    		One Carbon Metabolism1.00
    		One carbon pool by folate0.52
    2Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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



    Drugs & Compounds
    for MTHFD1L gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for MTHFD1L

    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 

    Transcripts
    for MTHFD1L gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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)

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    Inhib. RNA
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    Additional cDNA 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):

    BF056470 AI085684 AW593866 BF114891 AI652460 AA247723 CB111131 BU859316 
    AI498814 AI225124 AI991562 BQ018601 BM973193 BF515623 AW135145 BQ936036 
    CA444310 AY374131 BF434308 BG210981 BU581531 N34165 BI094354 BM052892 

    GeneLoc Exon Structure


    Expression
    for MTHFD1L gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATCTAGAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MTHFD1L expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

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    In Situ
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    Orthologs
    for MTHFD1L gene

    (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 7/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 --
    		 --
    		 70(a)
    		 1 → many
    		 GL343259.1(793248-911506)
    zebrafish
    (Danio rerio)    		 Actinopterygii mthfd1l1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) more 68.01(n)
    70.29(a)    		   100034522  XM_003200705.1  XP_003200753.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta pug6
    		 pugilist
    		 50(a)
    		 1 → many
    		 3R(6522240-6529038)
    worm
    (Caenorhabditis elegans)    		 Secernentea K07E3.46
    		 Protein K07E3.4, isoform a; Protein K07E3.4, isofo...
    		 68(a)
    		 possible ortholog
    		 X(8080823-8083969)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons THFS6
    AT2G122806
    (see all 3)    		 Formate--tetrahydrofolate ligase
    P-loop containing nucleoside triphosphate hydrolas...
    (see all 3)    		 65(a)
    63(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 1(18701951-18704938)
    2(4922282-4922679)
    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
    for MTHFD1L gene

    (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


    Genomic Variants
    for MTHFD1L gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/5033 NCBI SNPs in MTHFD1L are shown (see all 5033)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1410312801,2
    		C,F,other161389036(+) GTGTTC/TGTGCA 6 F syn11Minor allele frequency- T:0.00NA 4550
    rs1113669881,2
    		C,--148748535(+) TCACTC/GTGTTG 3 -- us2k12Minor allele frequency- G:0.04WA 120
    rs753015931,2
    		C,F,--148748946(+) TTGAAA/CAAATT 3 -- us2k12Minor allele frequency- C:0.09WA NA 238
    rs773519351,2
    		F,--148749040(+) GTATTA/GTAAGT 3 -- us2k11Minor allele frequency- G:0.09WA 118
    rs1116997981,2
    		--148749606(+) CCTCAA/CGTGAT 4 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs736150701,2
    		C,--148749782(+) ACTTCA/GCTCAT 4 -- us2k12Minor allele frequency- G:0.06WA 120
    rs1138188741,2
    		--148750086(+) CGAAGC/ACCCCG 4 -- us2k11Minor allele frequency- A:0.00CSA 1
    rs624326791,2
    		--148750096(+) GCAAGC/GTCACC 4 -- us2k12Minor allele frequency- G:0.07NA 122
    rs772935461,2
    		C,F,--148750223(+) GGCCTT/ATCAGG 4 -- us2k13Minor allele frequency- A:0.12WA NA EA 358
    rs1126708651,2
    		--148750312(+) CAAACG/CAAAGT 4 -- us2k11Minor allele frequency- C:0.00CSA 1

    HapMap Linkage Disequilibrium report for MTHFD1L (151186685 - 151423023 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for MTHFD1L
         5 CNVs: 3644 31303 6516 4702 62587
         5 Indels: 81650 51821 22446 94110 94109
    Human Gene Mutation Database (HGMD): MTHFD1L

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    DNA2.0 Custom Variant and Variant Library Synthesis for MTHFD1L

    Disorders / Diseases
    for MTHFD1L gene

    (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
    MTHFD1L for disorders           About GeneDecksing

    OMIM gene information: 611427    OMIM disorders: --

    16 diseases for MTHFD1L:    About MalaCards
    cleft lip/palate    neural tube defect    cleft lip    homocysteine
    coronary heart disease    chronic myeloid leukemia    myeloid leukemia    down syndrome
    colon adenocarcinoma    nephropathy    alzheimer's disease    dementia
    colorectal cancer    leukemia    adenocarcinoma    atherosclerosis

    Human Genome Epidemiology (HuGE) Navigator: MTHFD1L (14 documents)

    Export disorders for MTHFD1L gene to outside databases

    Publications
    for MTHFD1L gene

    (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 41):
    (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. Replication of the MTHFD1L gene association with late- onset Alzheimer's disease in a Northern Han Chinese population. (PubMed id 22330827)1 Ma X.Y....Tan L. (2012)
    6. Genotyping of a tri-allelic polymorphism by a novel me lting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Irel and. (PubMed id 22520921)1 Minguzzi S....Parle-McDermott A. (2012)
    7. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
    8. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PubMed id 22277967)1 Calvo S.E.... Mootha V.K. (2012)
    9. The MTHFD1L gene rs11754661 marker is not associated w ith Alzheimer's disease in a sample of the Spanish population. (PubMed id 21383495)1 Ramirez-Lorca R....Ruiz A. (2011)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    External Searches for MTHFD1L gene

    (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)

    Genome Databases showing MTHFD1L gene

    (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

    Other Databases showing MTHFD1L gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MTHFD1L gene

    (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

    Intellectual Property
    for MTHFD1L gene

    (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



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