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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
Entrez_Gene (NCBI)MTHFD1  4522  methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
Cards
GeneCards (Weizmann)MTHFD1
Ensembl (Hinxton)ENSG00000100714 [Gene_View]  chr14:64854759-64926725 [Contig_View]  MTHFD1 [Vega]
AceView (NCBI)MTHFD1
Genatlas (Paris)MTHFD1
SOURCE (Stanford)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 (SRS)NM_005956
RefSeq transcript (Entrez)NM_005956
RefSeq genomic (SRS)AC_000146 NC_000014 NC_018925 NG_012450 NT_026437 NW_001838111 NW_004078079
RefSeq genomic (Entrez)AC_000146 NC_000014 NC_018925 NG_012450 NT_026437 NW_001838111 NW_004078079
Consensus coding sequences : CCDS (NCBI)MTHFD1
Cluster EST : UnigeneHs.652308 [ SRS ] Hs.652308 [ NCBI ]
CGAP (NCI)Hs.652308
Alternative Splicing : Fast-db (Paris)GSHG0008909
Alternative Splicing GalleryENSG00000100714
Gene ExpressionMTHFD1 [ NCBI-GEO ]   MTHFD1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11586 (SRS) P11586 (Uniprot)
NextProtP11586
With graphics : InterProP11586
Splice isoforms : SwissVarP11586(Swissvar)
Domaine pattern : Prosite (SRS)FTHFS_1 (PS00721)    FTHFS_2 (PS00722)    THF_DHG_CYH_1 (PS00766)    THF_DHG_CYH_2 (PS00767)   
Domaine pattern : Prosite (Expaxy)FTHFS_1 (PS00721)    FTHFS_2 (PS00722)    THF_DHG_CYH_1 (PS00766)    THF_DHG_CYH_2 (PS00767)   
Domains : Interpro (SRS)Formate_THF_ligase    Formate_THF_ligase_CS    NAD(P)-bd_dom    THF_DH/CycHdrlase    THF_DH/CycHdrlase_cat_dom    THF_DH/CycHdrlase_CS    THF_DH/CycHdrlase_NAD-bd_dom   
Domains : Interpro (EBI)Formate_THF_ligase    Formate_THF_ligase_CS    NAD(P)-bd_dom    THF_DH/CycHdrlase    THF_DH/CycHdrlase_cat_dom    THF_DH/CycHdrlase_CS    THF_DH/CycHdrlase_NAD-bd_dom   
Related proteins : CluSTrP11586
Domain families : Pfam (SRS)FTHFS (PF01268)    THF_DHG_CYH (PF00763)    THF_DHG_CYH_C (PF02882)   
Domain families : Pfam (Sanger)FTHFS (PF01268)    THF_DHG_CYH (PF00763)    THF_DHG_CYH_C (PF02882)   
Domain families : Pfam (NCBI)pfam01268    pfam00763    pfam02882   
DMDM4522
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
HPRD01403
IPIIPI00794900   IPI01026216   IPI00218342   
Protein Interaction databases
DIP (DOE-UCLA)P11586
IntAct (EBI)P11586
FunCoupENSG00000100714
REACTOMEMTHFD1
Protein Interaction Database4522
BioGRIDMTHFD1
InParanoidP11586
Interologous Interaction database P11586
IntegromeDBMTHFD1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MTHFD1
SNP (GeneSNP Utah)MTHFD1
SNP : HGBaseMTHFD1
Genetic variants : HAPMAPMTHFD1
Somatic Mutations in Cancer : COSMICMTHFD1 
CONAN: Copy Number AnalysisMTHFD1 
Mutations and Diseases : HGMDMTHFD1
OMIM172460    601634   
GENETests172460    601634   
Disease Genetic AssociationMTHFD1
Huge Navigator MTHFD1 [HugePedia]  MTHFD1 [HugeCancerGEM]
Genomic VariantsMTHFD1  MTHFD1 [DGVbeta]
snp3D : Map Gene to Disease4522
General knowledge
Homologs : HomoloGeneMTHFD1
Homology/Alignments : Family Browser (UCSC)MTHFD1
Phylogenetic Trees/Animal Genes : TreeFamMTHFD1
Catalytic activity : Enzyme1.5.1.5 [ Enzyme-Expasy ]   1.5.1.5 [ Enzyme-SRS ]   1.5.1.5 [ IntEnz-EBI ]   1.5.1.5 [ BRENDA ]   1.5.1.5 [ KEGG ]   
Chemical/Protein Interactions : CTD4522
Chemical/Pharm GKB GenePA31236
Clinical trialMTHFD1
Cancer Resource (Charite)ENSG00000100714
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  cytoplasm  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  tetrahydrofolate interconversion  small molecule metabolic process  folic acid metabolic process  
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  cytoplasm  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  tetrahydrofolate interconversion  small molecule metabolic process  folic acid metabolic process  
Pathways : KEGGGlyoxylate and dicarboxylate metabolismOne carbon pool by folate
Other databases
Probes
Litterature
PubMed129 Pubmed reference(s) in Entrez
PubGeneMTHFD1
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:27:05 CEST 2013
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