Atlas of Genetics and Cytogenetics in Oncology and Haematology

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

Identity

Other namesFTHFSDC1
MTC1THFS
dJ292B18.2
HGNC (Hugo) MTHFD1L
LocusID (NCBI) 25902
Location 6q25.1
Location_base_pair Starts at 151186815 and ends at 151423023 bp from pter ( according to hg19-Feb_2009)
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

 

External links

Nomenclature
HGNC (Hugo)MTHFD1L   21055
Cards
Entrez_Gene (NCBI)MTHFD1L  25902  methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
GeneCards (Weizmann)MTHFD1L
Ensembl hg19 (Hinxton)ENSG00000120254 [Gene_View]  chr6:151186815-151423023 [Contig_View]  MTHFD1L [Vega]
Ensembl hg38 (Hinxton)ENSG00000120254 [Gene_View]  chr6:151186815-151423023 [Contig_View]  MTHFD1L [Vega]
ICGC DataPortalENSG00000120254
cBioPortalMTHFD1L
AceView (NCBI)MTHFD1L
Genatlas (Paris)MTHFD1L
WikiGenes25902
SOURCE (Princeton)MTHFD1L
Genomic and cartography
GoldenPath hg19 (UCSC)MTHFD1L  -     chr6:151186815-151423023 +  6q25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MTHFD1L  -     6q25.1   [Description]    (hg38-Dec_2013)
EnsemblMTHFD1L - 6q25.1 [CytoView hg19]  MTHFD1L - 6q25.1 [CytoView hg38]
Mapping of homologs : NCBIMTHFD1L [Mapview hg19]  MTHFD1L [Mapview hg38]
OMIM611427   
Gene and transcription
Genbank (Entrez)AA478842 AB127387 AK024798 AK127089 AK310342
RefSeq transcript (Entrez)NM_001242767 NM_001242768 NM_001242769 NM_015440
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_029185 NT_025741 NW_001838990 NW_004929328
Consensus coding sequences : CCDS (NCBI)MTHFD1L
Cluster EST : UnigeneHs.591343 [ NCBI ]
CGAP (NCI)Hs.591343
Alternative Splicing : Fast-db (Paris)GSHG0026122
Alternative Splicing GalleryENSG00000120254
Gene ExpressionMTHFD1L [ NCBI-GEO ]     MTHFD1L [ SEEK ]   MTHFD1L [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UB35 (Uniprot)
NextProtQ6UB35  [Medical]
With graphics : InterProQ6UB35
Splice isoforms : SwissVarQ6UB35 (Swissvar)
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 ]   
Domaine pattern : Prosite (Expaxy)FTHFS_1 (PS00721)    FTHFS_2 (PS00722)   
Domains : Interpro (EBI)Formate_THF_ligase    Formate_THF_ligase_CS    NAD(P)-bd_dom    P-loop_NTPase    THF_DH/CycHdrlase    THF_DH/CycHdrlase_cat_dom    THF_DH/CycHdrlase_NAD-bd_dom   
Related proteins : CluSTrQ6UB35
Domain families : Pfam (Sanger)FTHFS (PF01268)    THF_DHG_CYH (PF00763)    THF_DHG_CYH_C (PF02882)   
Domain families : Pfam (NCBI)pfam01268    pfam00763    pfam02882   
DMDM Disease mutations25902
Blocks (Seattle)Q6UB35
Human Protein AtlasENSG00000120254
Peptide AtlasQ6UB35
HPRD09967
IPIIPI00552054   IPI00291646   IPI00980821   IPI00647214   IPI00646698   IPI00644940   IPI00643937   IPI01013907   IPI00643337   IPI00940262   
Protein Interaction databases
DIP (DOE-UCLA)Q6UB35
IntAct (EBI)Q6UB35
FunCoupENSG00000120254
BioGRIDMTHFD1L
IntegromeDBMTHFD1L
STRING (EMBL)MTHFD1L
Ontologies - Pathways
QuickGOQ6UB35
Ontology : AmiGOformate-tetrahydrofolate ligase activity  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  ATP binding  mitochondrion  cytosol  one-carbon metabolic process  folic acid-containing compound metabolic process  folic acid-containing compound biosynthetic process  formate metabolic process  membrane  tetrahydrofolate interconversion  protein homodimerization activity  tetrahydrofolate metabolic process  oxidation-reduction process  
Ontology : EGO-EBIformate-tetrahydrofolate ligase activity  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  ATP binding  mitochondrion  cytosol  one-carbon metabolic process  folic acid-containing compound metabolic process  folic acid-containing compound biosynthetic process  formate metabolic process  membrane  tetrahydrofolate interconversion  protein homodimerization activity  tetrahydrofolate metabolic process  oxidation-reduction process  
Pathways : KEGGOne carbon pool by folate   
Protein Interaction DatabaseMTHFD1L
DoCM (Curated mutations)MTHFD1L
Wikipedia pathwaysMTHFD1L
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMTHFD1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTHFD1L
dbVarMTHFD1L
ClinVarMTHFD1L
1000_GenomesMTHFD1L 
Exome Variant ServerMTHFD1L
SNP (GeneSNP Utah)MTHFD1L
SNP : HGBaseMTHFD1L
Genetic variants : HAPMAPMTHFD1L
Genomic VariantsMTHFD1L  MTHFD1L [DGVbeta]
Mutations
ICGC Data PortalENSG00000120254 
Somatic Mutations in Cancer : COSMICMTHFD1L 
CONAN: Copy Number AnalysisMTHFD1L 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:151186815-151423023
Mutations and Diseases : HGMDMTHFD1L
OMIM611427   
MedgenMTHFD1L
NextProtQ6UB35 [Medical]
GENETestsMTHFD1L
Disease Genetic AssociationMTHFD1L
Huge Navigator MTHFD1L [HugePedia]  MTHFD1L [HugeCancerGEM]
snp3D : Map Gene to Disease25902
DGIdb (Drug Gene Interaction db)MTHFD1L
General knowledge
Homologs : HomoloGeneMTHFD1L
Homology/Alignments : Family Browser (UCSC)MTHFD1L
Phylogenetic Trees/Animal Genes : TreeFamMTHFD1L
Chemical/Protein Interactions : CTD25902
Chemical/Pharm GKB GenePA134927803
Clinical trialMTHFD1L
Cancer Resource (Charite)ENSG00000120254
Other databases
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
CoreMineMTHFD1L
GoPubMedMTHFD1L
iHOPMTHFD1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:20:29 CET 2014
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