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

Identity

Other namesMTHFC
MTHFD
HGNC (Hugo) MTHFD1
LocusID (NCBI) 4522
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

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 (Hinxton)ENSG00000100714 [Gene_View]  chr14:64854759-64926725 [Contig_View]  MTHFD1 [Vega]
ICGC DataPortalENSG00000100714
AceView (NCBI)MTHFD1
Genatlas (Paris)MTHFD1
WikiGenes4522
SOURCE (Princeton)NM_005956
Genomic and cartography
GoldenPath (UCSC)MTHFD1  -  14q23.3   chr14:64854759-64926725 +  14q23.3   [Description]    (hg19-Feb_2009)
EnsemblMTHFD1 - 14q23.3 [CytoView]
Mapping of homologs : NCBIMTHFD1 [Mapview]
OMIM172460   601634   
Gene and transcription
Genbank (Entrez)AK302747 AK309266 AK312361 BC001014 BC009806
RefSeq transcript (Entrez)NM_005956
RefSeq genomic (Entrez)AC_000146 NC_000014 NC_018925 NG_012450 NT_026437 NW_001838111 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11586 (Uniprot)
NextProtP11586  [Medical]
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
InParanoidP11586
Interologous Interaction database P11586
IntegromeDBMTHFD1
STRING (EMBL)MTHFD1
Ontologies - Pathways
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 vesicular 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 vesicular exosome  
Pathways : KEGGOne carbon pool by folate   
Protein Interaction DatabaseMTHFD1
Wikipedia pathwaysMTHFD1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MTHFD1
SNP (GeneSNP Utah)MTHFD1
SNP : HGBaseMTHFD1
Genetic variants : HAPMAPMTHFD1
1000_GenomesMTHFD1 
ICGC programENSG00000100714 
CONAN: Copy Number AnalysisMTHFD1 
Somatic Mutations in Cancer : COSMICMTHFD1 
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Mutations and Diseases : HGMDMTHFD1
OMIM172460    601634   
MedgenMTHFD1
GENETestsMTHFD1
Disease Genetic AssociationMTHFD1
Huge Navigator MTHFD1 [HugePedia]  MTHFD1 [HugeCancerGEM]
Genomic VariantsMTHFD1  MTHFD1 [DGVbeta]
Exome VariantMTHFD1
dbVarMTHFD1
ClinVarMTHFD1
snp3D : Map Gene to Disease4522
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
PubMed149 Pubmed reference(s) in Entrez
CoreMineMTHFD1
iHOPMTHFD1
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 13:02:14 CEST 2014

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