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MTHFD1L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like)

Identity

Alias (NCBI)FTHFSDC1
MTC1THFS
dJ292B18.2
HGNC (Hugo) MTHFD1L
HGNC Alias symbDKFZP586G1517
FLJ21145
HGNC Alias name10-formyl-THF synthetase
 mitochondrial C1-tetrahydrofolate synthase
 monofunctional C1-tetrahydrofolate synthase, mitochondrial
HGNC Previous nameFTHFSDC1
HGNC Previous nameformyltetrahydrofolate synthetase domain containing 1
LocusID (NCBI) 25902
Atlas_Id 47403
Location 6q25.1  [Link to chromosome band 6q25]
Location_base_pair Starts at 150865679 and ends at 151101887 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AKAP12 (6q25.1) / MTHFD1L (6q25.1)ESR1 (6q25.1) / MTHFD1L (6q25.1)IMP3 (15q24.2) / MTHFD1L (6q25.1)
MTHFD1L (6q25.1) / MTHFD1L (6q25.1)MTHFD1L (6q25.1) / NKAIN2 (6q22.31)MTHFD1L (6q25.1) / PLEKHG1 (6q25.1)
MTHFD1L (6q25.1) / RNF216 (7p22.1)MTHFD1L (6q25.1) / RNU5E-1 (5q14.1)MTHFD1L (6q25.1) / THEMIS (6q22.33)
RNF216 (7p22.1) / MTHFD1L (6q25.1)SHANK1 (19q13.33) / MTHFD1L (6q25.1)TNIK (3q26.2) / MTHFD1L (6q25.1)
ESR1 6q25.1 / MTHFD1L 6q25.1MTHFD1L 6q25.1 / PLEKHG1 6q25.1MTHFD1L 6q25.1 / RNF216 7p22.1
MTHFD1L 6q25.1 / THEMIS 6q22.33RNF216 7p22.1 / MTHFD1L 6q25.1SHANK1 19q13.33 / MTHFD1L 6q25.1
TNIK 3q26.2 / MTHFD1L 6q25.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ]
  t(3;6)(q26;q25) TNIK/MTHFD1L
t(6;6)(q22;q25) MTHFD1L/THEMIS
ESR1/MTHFD1L (6q25)
MTHFD1L/PLEKHG1 (6q25)
t(6;7)(q25;p22) MTHFD1L/RNF216
t(6;7)(q25;p22) RNF216/MTHFD1L
t(6;19)(q25;q13) SHANK1/MTHFD1L

External links

Nomenclature
HGNC (Hugo)MTHFD1L   21055
Cards
Entrez_Gene (NCBI)MTHFD1L    methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
AliasesFTHFSDC1; MTC1THFS; dJ292B18.2
GeneCards (Weizmann)MTHFD1L
Ensembl hg19 (Hinxton)ENSG00000120254 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120254 [Gene_View]  ENSG00000120254 [Sequence]  chr6:150865679-151101887 [Contig_View]  MTHFD1L [Vega]
ICGC DataPortalENSG00000120254
TCGA cBioPortalMTHFD1L
AceView (NCBI)MTHFD1L
Genatlas (Paris)MTHFD1L
SOURCE (Princeton)MTHFD1L
Genetics Home Reference (NIH)MTHFD1L
Genomic and cartography
GoldenPath hg38 (UCSC)MTHFD1L  -     chr6:150865679-151101887 +  6q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTHFD1L  -     6q25.1   [Description]    (hg19-Feb_2009)
GoldenPathMTHFD1L - 6q25.1 [CytoView hg19]  MTHFD1L - 6q25.1 [CytoView hg38]
ImmunoBaseENSG00000120254
genome Data Viewer NCBIMTHFD1L [Mapview hg19]  
OMIM611427   
Gene and transcription
Genbank (Entrez)AA478842 AB127387 AK024798 AK127089 AK310342
RefSeq transcript (Entrez)NM_001242767 NM_001242768 NM_001242769 NM_001350486 NM_001350487 NM_001350488 NM_001350489 NM_001350490 NM_001350491 NM_001350492 NM_001350493 NM_015440
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MTHFD1L
Alternative Splicing GalleryENSG00000120254
Gene ExpressionMTHFD1L [ NCBI-GEO ]   MTHFD1L [ EBI - ARRAY_EXPRESS ]   MTHFD1L [ SEEK ]   MTHFD1L [ MEM ]
Gene Expression Viewer (FireBrowse)MTHFD1L [ Firebrowse - Broad ]
GenevisibleExpression of MTHFD1L in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25902
GTEX Portal (Tissue expression)MTHFD1L
Human Protein AtlasENSG00000120254-MTHFD1L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UB35   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UB35  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UB35
Splice isoforms : SwissVarQ6UB35
Catalytic activity : Enzyme6.3.4.3 [ Enzyme-Expasy ]   6.3.4.36.3.4.3 [ IntEnz-EBI ]   6.3.4.3 [ BRENDA ]   6.3.4.3 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ6UB35
Domaine pattern : Prosite (Expaxy)FTHFS_1 (PS00721)    FTHFS_2 (PS00722)   
Domains : Interpro (EBI)Formate_THF_ligase    Formate_THF_ligase_CS    NAD(P)-bd_dom_sf    P-loop_NTPase    THF_DH/CycHdrlase    THF_DH/CycHdrlase_cat_dom    THF_DH/CycHdrlase_NAD-bd_dom   
Domain families : Pfam (Sanger)FTHFS (PF01268)    THF_DHG_CYH (PF00763)    THF_DHG_CYH_C (PF02882)   
Domain families : Pfam (NCBI)pfam01268    pfam00763    pfam02882   
Conserved Domain (NCBI)MTHFD1L
Blocks (Seattle)MTHFD1L
SuperfamilyQ6UB35
Human Protein Atlas [tissue]ENSG00000120254-MTHFD1L [tissue]
Peptide AtlasQ6UB35
HPRD09967
IPIIPI00552054   IPI00291646   IPI00980821   IPI00647214   IPI00646698   IPI00644940   IPI00643937   IPI01013907   IPI00643337   IPI00940262   
Protein Interaction databases
DIP (DOE-UCLA)Q6UB35
IntAct (EBI)Q6UB35
BioGRIDMTHFD1L
STRING (EMBL)MTHFD1L
ZODIACMTHFD1L
Ontologies - Pathways
QuickGOQ6UB35
Ontology : AmiGOneural tube closure  formate-tetrahydrofolate ligase activity  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  ATP binding  mitochondrion  mitochondrion  mitochondrial matrix  cytosol  one-carbon metabolic process  folic acid-containing compound metabolic process  10-formyltetrahydrofolate biosynthetic process  formate metabolic process  membrane  tetrahydrofolate interconversion  tetrahydrofolate interconversion  protein homodimerization activity  folic acid metabolic process  embryonic neurocranium morphogenesis  embryonic viscerocranium morphogenesis  oxidation-reduction process  
Ontology : EGO-EBIneural tube closure  formate-tetrahydrofolate ligase activity  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  ATP binding  mitochondrion  mitochondrion  mitochondrial matrix  cytosol  one-carbon metabolic process  folic acid-containing compound metabolic process  10-formyltetrahydrofolate biosynthetic process  formate metabolic process  membrane  tetrahydrofolate interconversion  tetrahydrofolate interconversion  protein homodimerization activity  folic acid metabolic process  embryonic neurocranium morphogenesis  embryonic viscerocranium morphogenesis  oxidation-reduction process  
Pathways : KEGGOne carbon pool by folate   
NDEx NetworkMTHFD1L
Atlas of Cancer Signalling NetworkMTHFD1L
Wikipedia pathwaysMTHFD1L
Orthology - Evolution
OrthoDB25902
GeneTree (enSembl)ENSG00000120254
Phylogenetic Trees/Animal Genes : TreeFamMTHFD1L
HOGENOMQ6UB35
Homologs : HomoloGeneMTHFD1L
Homology/Alignments : Family Browser (UCSC)MTHFD1L
Gene fusions - Rearrangements
Fusion : MitelmanESR1/MTHFD1L [6q25.1/6q25.1]  
Fusion : MitelmanMTHFD1L/PLEKHG1 [6q25.1/6q25.1]  
Fusion : MitelmanMTHFD1L/RNF216 [6q25.1/7p22.1]  
Fusion : MitelmanMTHFD1L/THEMIS [6q25.1/6q22.33]  
Fusion : MitelmanRNF216/MTHFD1L [7p22.1/6q25.1]  
Fusion : MitelmanSHANK1/MTHFD1L [19q13.33/6q25.1]  
Fusion : MitelmanTNIK/MTHFD1L [3q26.2/6q25.1]  
Fusion PortalESR1 6q25.1 MTHFD1L 6q25.1 BRCA
Fusion PortalMTHFD1L 6q25.1 PLEKHG1 6q25.1 BRCA
Fusion PortalMTHFD1L 6q25.1 RNF216 7p22.1 HNSC
Fusion PortalMTHFD1L 6q25.1 THEMIS 6q22.33 BRCA
Fusion PortalRNF216 7p22.1 MTHFD1L 6q25.1 HNSC
Fusion PortalSHANK1 19q13.33 MTHFD1L 6q25.1 BRCA
Fusion PortalTNIK 3q26.2 MTHFD1L 6q25.1 BRCA
Fusion : QuiverMTHFD1L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTHFD1L [hg38]
dbVarMTHFD1L
ClinVarMTHFD1L
MonarchMTHFD1L
1000_GenomesMTHFD1L 
Exome Variant ServerMTHFD1L
GNOMAD BrowserENSG00000120254
Varsome BrowserMTHFD1L
Genomic Variants (DGV)MTHFD1L [DGVbeta]
DECIPHERMTHFD1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMTHFD1L 
Mutations
ICGC Data PortalMTHFD1L 
TCGA Data PortalMTHFD1L 
Broad Tumor PortalMTHFD1L
OASIS PortalMTHFD1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTHFD1L  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMTHFD1L
Mutations and Diseases : HGMDMTHFD1L
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MTHFD1L
DgiDB (Drug Gene Interaction Database)MTHFD1L
DoCM (Curated mutations)MTHFD1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTHFD1L (select a term)
intoGenMTHFD1L
Cancer3DMTHFD1L(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611427   
Orphanet
DisGeNETMTHFD1L
MedgenMTHFD1L
Genetic Testing Registry MTHFD1L
NextProtQ6UB35 [Medical]
GENETestsMTHFD1L
Target ValidationMTHFD1L
Huge Navigator MTHFD1L [HugePedia]
ClinGenMTHFD1L
Clinical trials, drugs, therapy
MyCancerGenomeMTHFD1L
Protein Interactions : CTD
Pharm GKB GenePA134927803
Clinical trialMTHFD1L
Miscellaneous
canSAR (ICR)MTHFD1L (select the gene name)
HarmonizomeMTHFD1L
DataMed IndexMTHFD1L
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMTHFD1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 21:00:24 CET 2020
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