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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
Entrez_Gene (NCBI)MTHFD1L  25902  methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
Cards
GeneCards (Weizmann)MTHFD1L
Ensembl (Hinxton)ENSG00000120254 [Gene_View]  chr6:151186815-151423023 [Contig_View]  MTHFD1L [Vega]
AceView (NCBI)MTHFD1L
Genatlas (Paris)MTHFD1L
SOURCE (Stanford)NM_001242767 NM_001242768 NM_001242769 NM_015440
Genomic and cartography
GoldenPath (UCSC)MTHFD1L  -  6q25.1   chr6:151186815-151423023 +  6q25.1   [Description]    (hg19-Feb_2009)
EnsemblMTHFD1L - 6q25.1 [CytoView]
Mapping of homologs : NCBIMTHFD1L [Mapview]
OMIM611427   
Gene and transcription
Genbank (Entrez)AA478842 AB127387 AK024798 AK127089 AK310342
RefSeq transcript (SRS)NM_001242767 NM_001242768 NM_001242769 NM_015440
RefSeq transcript (Entrez)NM_001242767 NM_001242768 NM_001242769 NM_015440
RefSeq genomic (SRS)AC_000138 NC_000006 NC_018917 NG_029185 NT_025741 NW_001838990 NW_004078028
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_029185 NT_025741 NW_001838990 NW_004078028
Consensus coding sequences : CCDS (NCBI)MTHFD1L
Cluster EST : UnigeneHs.591343 [ SRS ] Hs.591343 [ NCBI ]
CGAP (NCI)Hs.591343
Alternative Splicing : Fast-db (Paris)GSHG0026122
Alternative Splicing GalleryENSG00000120254
Gene ExpressionMTHFD1L [ NCBI-GEO ]   MTHFD1L [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UB35 (SRS) Q6UB35 (Uniprot)
NextProtQ6UB35
With graphics : InterProQ6UB35
Splice isoforms : SwissVarQ6UB35(Swissvar)
Domaine pattern : Prosite (SRS)FTHFS_1 (PS00721)    FTHFS_2 (PS00722)   
Domaine pattern : Prosite (Expaxy)FTHFS_1 (PS00721)    FTHFS_2 (PS00722)   
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_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_NAD-bd_dom   
Related proteins : CluSTrQ6UB35
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   
DMDM25902
Blocks (Seattle)Q6UB35
Human Protein AtlasENSG00000120254
HPRD09967
IPIIPI00552054   IPI00291646   IPI00980821   IPI00647214   IPI00646698   IPI00644940   IPI00643937   IPI01013907   IPI00643337   IPI00940262   
Protein Interaction databases
DIP (DOE-UCLA)Q6UB35
IntAct (EBI)Q6UB35
FunCoupENSG00000120254
REACTOMEMTHFD1L
Protein Interaction Database25902
BioGRIDMTHFD1L
InParanoidQ6UB35
Interologous Interaction database Q6UB35
IntegromeDBMTHFD1L
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MTHFD1L
SNP (GeneSNP Utah)MTHFD1L
SNP : HGBaseMTHFD1L
Genetic variants : HAPMAPMTHFD1L
Somatic Mutations in Cancer : COSMICMTHFD1L 
CONAN: Copy Number AnalysisMTHFD1L 
Mutations and Diseases : HGMDMTHFD1L
OMIM611427   
GENETests611427   
Disease Genetic AssociationMTHFD1L
Huge Navigator MTHFD1L [HugePedia]  MTHFD1L [HugeCancerGEM]
Genomic VariantsMTHFD1L  MTHFD1L [DGVbeta]
snp3D : Map Gene to Disease25902
General knowledge
Homologs : HomoloGeneMTHFD1L
Homology/Alignments : Family Browser (UCSC)MTHFD1L
Phylogenetic Trees/Animal Genes : TreeFamMTHFD1L
Catalytic activity : Enzyme6.3.4.3 [ Enzyme-Expasy ]   6.3.4.3 [ Enzyme-SRS ]   6.3.4.3 [ IntEnz-EBI ]   6.3.4.3 [ BRENDA ]   6.3.4.3 [ KEGG ]   
Chemical/Protein Interactions : CTD25902
Chemical/Pharm GKB GenePA134927803
Clinical trialMTHFD1L
Cancer Resource (Charite)ENSG00000120254
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  tetrahydrofolate interconversion  protein homodimerization activity  tetrahydrofolate metabolic 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  tetrahydrofolate interconversion  protein homodimerization activity  tetrahydrofolate metabolic process  
Pathways : KEGGOne carbon pool by folateGlyoxylate and dicarboxylate metabolism
Other databases
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
PubGeneMTHFD1L
iHOPMTHFD1L
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:44:35 CEST 2013
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