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MTHFD1 (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase)

Identity

Other namesMTHFC
MTHFD
HGNC (Hugo) MTHFD1
LocusID (NCBI) 4522
Atlas_Id 51235
Location 14q23.3
Location_base_pair Starts at 64854759 and ends at 64926725 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)MTHFD1   7432
Cards
Entrez_Gene (NCBI)MTHFD1  4522  methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
GeneCards (Weizmann)MTHFD1
Ensembl hg19 (Hinxton)ENSG00000100714 [Gene_View]  chr14:64854759-64926725 [Contig_View]  MTHFD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100714 [Gene_View]  chr14:64854759-64926725 [Contig_View]  MTHFD1 [Vega]
ICGC DataPortalENSG00000100714
TCGA cBioPortalMTHFD1
AceView (NCBI)MTHFD1
Genatlas (Paris)MTHFD1
WikiGenes4522
SOURCE (Princeton)MTHFD1
Genomic and cartography
GoldenPath hg19 (UCSC)MTHFD1  -     chr14:64854759-64926725 +  14q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MTHFD1  -     14q23.3   [Description]    (hg38-Dec_2013)
EnsemblMTHFD1 - 14q23.3 [CytoView hg19]  MTHFD1 - 14q23.3 [CytoView hg38]
Mapping of homologs : NCBIMTHFD1 [Mapview hg19]  MTHFD1 [Mapview hg38]
OMIM172460   601634   
Gene and transcription
Genbank (Entrez)AK302747 AK309266 AK312361 BC001014 BC009806
RefSeq transcript (Entrez)NM_005956
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_012450 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)MTHFD1
Cluster EST : UnigeneHs.652308 [ NCBI ]
CGAP (NCI)Hs.652308
Alternative Splicing : Fast-db (Paris)GSHG0008909
Alternative Splicing GalleryENSG00000100714
Gene ExpressionMTHFD1 [ NCBI-GEO ]     MTHFD1 [ SEEK ]   MTHFD1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11586 (Uniprot)
NextProtP11586  [Medical]  [Publications]
With graphics : InterProP11586
Splice isoforms : SwissVarP11586 (Swissvar)
Catalytic activity : Enzyme1.5.1.5 [ Enzyme-Expasy ]   1.5.1.51.5.1.5 [ IntEnz-EBI ]   1.5.1.5 [ BRENDA ]   1.5.1.5 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)FTHFS_1 (PS00721)    FTHFS_2 (PS00722)    THF_DHG_CYH_1 (PS00766)    THF_DHG_CYH_2 (PS00767)   
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_CS    THF_DH/CycHdrlase_NAD-bd_dom   
Related proteins : CluSTrP11586
Domain families : Pfam (Sanger)FTHFS (PF01268)    THF_DHG_CYH (PF00763)    THF_DHG_CYH_C (PF02882)   
Domain families : Pfam (NCBI)pfam01268    pfam00763    pfam02882   
DMDM Disease mutations4522
Blocks (Seattle)P11586
PDB (SRS)1A4I    1DIA    1DIB    1DIG   
PDB (PDBSum)1A4I    1DIA    1DIB    1DIG   
PDB (IMB)1A4I    1DIA    1DIB    1DIG   
PDB (RSDB)1A4I    1DIA    1DIB    1DIG   
Human Protein AtlasENSG00000100714
Peptide AtlasP11586
HPRD01403
IPIIPI00794900   IPI01026216   IPI00218342   
Protein Interaction databases
DIP (DOE-UCLA)P11586
IntAct (EBI)P11586
FunCoupENSG00000100714
BioGRIDMTHFD1
IntegromeDBMTHFD1
STRING (EMBL)MTHFD1
Ontologies - Pathways
QuickGOP11586
Ontology : AmiGOhistidine biosynthetic process  formate-tetrahydrofolate ligase activity  formate-tetrahydrofolate ligase activity  methenyltetrahydrofolate cyclohydrolase activity  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  ATP binding  mitochondrion  cytosol  cytosol  purine nucleotide biosynthetic process  one-carbon metabolic process  vitamin metabolic process  water-soluble vitamin metabolic process  methionine biosynthetic process  folic acid-containing compound biosynthetic process  membrane  tetrahydrofolate interconversion  small molecule metabolic process  folic acid metabolic process  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBIhistidine biosynthetic process  formate-tetrahydrofolate ligase activity  formate-tetrahydrofolate ligase activity  methenyltetrahydrofolate cyclohydrolase activity  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  ATP binding  mitochondrion  cytosol  cytosol  purine nucleotide biosynthetic process  one-carbon metabolic process  vitamin metabolic process  water-soluble vitamin metabolic process  methionine biosynthetic process  folic acid-containing compound biosynthetic process  membrane  tetrahydrofolate interconversion  small molecule metabolic process  folic acid metabolic process  oxidation-reduction process  extracellular exosome  
Pathways : KEGGOne carbon pool by folate   
Protein Interaction DatabaseMTHFD1
DoCM (Curated mutations)MTHFD1
Wikipedia pathwaysMTHFD1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerMTHFD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTHFD1
dbVarMTHFD1
ClinVarMTHFD1
1000_GenomesMTHFD1 
Exome Variant ServerMTHFD1
SNP (GeneSNP Utah)MTHFD1
SNP : HGBaseMTHFD1
Genetic variants : HAPMAPMTHFD1
Genomic Variants (DGV)MTHFD1 [DGVbeta]
Mutations
ICGC Data PortalMTHFD1 
TCGA Data PortalMTHFD1 
Tumor PortalMTHFD1
Somatic Mutations in Cancer : COSMICMTHFD1 
LOVD (Leiden Open Variation Database)genes/MTHFD1
LOVD (Leiden Open Variation Database)genes/MTHFD1
LOVD (Leiden Open Variation Database)genes/MTHFD1
LOVD (Leiden Open Variation Database)genes/MTHFD1
LOVD (Leiden Open Variation Database)genes/MTHFD1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:64854759-64926725
CONAN: Copy Number AnalysisMTHFD1 
Mutations and Diseases : HGMDMTHFD1
OMIM172460    601634   
MedgenMTHFD1
NextProtP11586 [Medical]
GENETestsMTHFD1
Disease Genetic AssociationMTHFD1
Huge Navigator MTHFD1 [HugePedia]  MTHFD1 [HugeCancerGEM]
snp3D : Map Gene to Disease4522
DGIdb (Drug Gene Interaction db)MTHFD1
BioCentury BCIQMTHFD1
General knowledge
Homologs : HomoloGeneMTHFD1
Homology/Alignments : Family Browser (UCSC)MTHFD1
Phylogenetic Trees/Animal Genes : TreeFamMTHFD1
Chemical/Protein Interactions : CTD4522
Chemical/Pharm GKB GenePA31236
Clinical trialMTHFD1
Cancer Resource (Charite)ENSG00000100714
Other databases
Probes
Litterature
PubMed157 Pubmed reference(s) in Entrez
CoreMineMTHFD1
GoPubMedMTHFD1
iHOPMTHFD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 29 18:57:37 CEST 2015

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