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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  [Link to chromosome band 14q23]
Location_base_pair Starts at 64854759 and ends at 64926725 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COLGALT1 (19p13.11) / MTHFD1 (14q23.3)LRR1 (14q21.3) / MTHFD1 (14q23.3)MTHFD1 (14q23.3) / C1orf61 (1q22)
MTHFD1 (14q23.3) / LOC100505782 (17q21.2)MTHFD1 (14q23.3) / MTHFD1 (14q23.3)MTHFD1 (14q23.3) / SYNE2 (14q23.2)
MTHFD1 (14q23.3) / UVRAG (11q13.5)PIGC (1q24.3) / MTHFD1 (14q23.3)PLEKHG3 (14q23.3) / MTHFD1 (14q23.3)
PRRC2C (1q24.3) / MTHFD1 (14q23.3)ZBTB1 (14q23.3) / MTHFD1 (14q23.3)LRR1 14q21.3 / MTHFD1 14q23.3
ZBTB1 14q23.3 / MTHFD1 14q23.3

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) [ 0 ]
  Lung: Translocations in Small Cell Carcinoma

External links

Nomenclature
HGNC (Hugo)MTHFD1   7432
Cards
Entrez_Gene (NCBI)MTHFD1  4522  methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
AliasesMTHFC; MTHFD
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)AK095514 AK302747 AK309266 AK312361 BC001014
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 GalleryENSG00000100714
Gene ExpressionMTHFD1 [ NCBI-GEO ]   MTHFD1 [ EBI - ARRAY_EXPRESS ]   MTHFD1 [ SEEK ]   MTHFD1 [ MEM ]
Gene Expression Viewer (FireBrowse)MTHFD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4522
GTEX Portal (Tissue expression)MTHFD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11586 (Uniprot)
NextProtP11586  [Sequence]  [Exons]  [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 ]   
PhosPhoSitePlusP11586
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   
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)MTHFD1
PDB (SRS)1A4I    1DIA    1DIB    1DIG   
PDB (PDBSum)1A4I    1DIA    1DIB    1DIG   
PDB (IMB)1A4I    1DIA    1DIB    1DIG   
PDB (RSDB)1A4I    1DIA    1DIB    1DIG   
Structural Biology KnowledgeBase1A4I    1DIA    1DIB    1DIG   
SCOP (Structural Classification of Proteins)1A4I    1DIA    1DIB    1DIG   
CATH (Classification of proteins structures)1A4I    1DIA    1DIB    1DIG   
SuperfamilyP11586
Human Protein AtlasENSG00000100714
Peptide AtlasP11586
HPRD01403
IPIIPI00794900   IPI01026216   IPI00218342   
Protein Interaction databases
DIP (DOE-UCLA)P11586
IntAct (EBI)P11586
FunCoupENSG00000100714
BioGRIDMTHFD1
STRING (EMBL)MTHFD1
ZODIACMTHFD1
Ontologies - Pathways
QuickGOP11586
Ontology : AmiGOhistidine biosynthetic process  neutrophil homeostasis  neural tube closure  formate-tetrahydrofolate ligase activity  formate-tetrahydrofolate ligase activity  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity  methylenetetrahydrofolate dehydrogenase (NAD+) activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  protein binding  ATP binding  mitochondrion  cytosol  cytosol  purine nucleotide biosynthetic process  methionine metabolic process  one-carbon metabolic process  heart development  serine family amino acid metabolic process  serine family amino acid biosynthetic process  methionine biosynthetic process  10-formyltetrahydrofolate biosynthetic process  membrane  transsulfuration  tetrahydrofolate interconversion  tetrahydrofolate interconversion  folic acid metabolic process  embryonic neurocranium morphogenesis  embryonic viscerocranium morphogenesis  oxidation-reduction process  somite development  extracellular exosome  
Ontology : EGO-EBIhistidine biosynthetic process  neutrophil homeostasis  neural tube closure  formate-tetrahydrofolate ligase activity  formate-tetrahydrofolate ligase activity  methenyltetrahydrofolate cyclohydrolase activity  methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity  methylenetetrahydrofolate dehydrogenase (NAD+) activity  methylenetetrahydrofolate dehydrogenase (NADP+) activity  protein binding  ATP binding  mitochondrion  cytosol  cytosol  purine nucleotide biosynthetic process  methionine metabolic process  one-carbon metabolic process  heart development  serine family amino acid metabolic process  serine family amino acid biosynthetic process  methionine biosynthetic process  10-formyltetrahydrofolate biosynthetic process  membrane  transsulfuration  tetrahydrofolate interconversion  tetrahydrofolate interconversion  folic acid metabolic process  embryonic neurocranium morphogenesis  embryonic viscerocranium morphogenesis  oxidation-reduction process  somite development  extracellular exosome  
Pathways : KEGGOne carbon pool by folate   
NDEx Network
Atlas of Cancer Signalling NetworkMTHFD1
Wikipedia pathwaysMTHFD1
Orthology - Evolution
OrthoDB4522
GeneTree (enSembl)ENSG00000100714
Phylogenetic Trees/Animal Genes : TreeFamMTHFD1
Homologs : HomoloGeneMTHFD1
Homology/Alignments : Family Browser (UCSC)MTHFD1
Gene fusions - Rearrangements
Fusion: TCGALRR1 14q21.3 MTHFD1 14q23.3 BRCA
Fusion: TCGAZBTB1 14q23.3 MTHFD1 14q23.3 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerMTHFD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTHFD1
dbVarMTHFD1
ClinVarMTHFD1
1000_GenomesMTHFD1 
Exome Variant ServerMTHFD1
ExAC (Exome Aggregation Consortium)MTHFD1 (select the gene name)
Genetic variants : HAPMAP4522
Genomic Variants (DGV)MTHFD1 [DGVbeta]
Mutations
ICGC Data PortalMTHFD1 
TCGA Data PortalMTHFD1 
Broad Tumor PortalMTHFD1
OASIS PortalMTHFD1 [ Somatic mutations - Copy number]
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
BioMutasearch MTHFD1
DgiDB (Drug Gene Interaction Database)MTHFD1
DoCM (Curated mutations)MTHFD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTHFD1 (select a term)
intoGenMTHFD1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:64854759-64926725  ENSG00000100714
CONAN: Copy Number AnalysisMTHFD1 
Mutations and Diseases : HGMDMTHFD1
OMIM172460    601634   
MedgenMTHFD1
Genetic Testing Registry MTHFD1
NextProtP11586 [Medical]
TSGene4522
GENETestsMTHFD1
Huge Navigator MTHFD1 [HugePedia]
snp3D : Map Gene to Disease4522
BioCentury BCIQMTHFD1
ClinGenMTHFD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4522
Chemical/Pharm GKB GenePA31236
Clinical trialMTHFD1
Miscellaneous
canSAR (ICR)MTHFD1 (select the gene name)
Probes
Litterature
PubMed173 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTHFD1
EVEXMTHFD1
GoPubMedMTHFD1
iHOPMTHFD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 9 19:05:54 CEST 2016

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