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ALDH1L1 (aldehyde dehydrogenase 1 family member L1)

Identity

Alias_namesFTHFD
formyltetrahydrofolate dehydrogenase
aldehyde dehydrogenase 1 family, member L1
Alias_symbol (synonym)10-fTHF
Other alias10-FTHFDH
FDH
HGNC (Hugo) ALDH1L1
LocusID (NCBI) 10840
Atlas_Id 45920
Location 3q21.3  [Link to chromosome band 3q21]
Location_base_pair Starts at 126103561 and ends at 126180802 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ALDH1L1 (3q21.3) / SPATA6L (9p24.2)APC (5q22.2) / ALDH1L1 (3q21.3)CNBP (3q21.3) / ALDH1L1 (3q21.3)
RHOQ (2p21) / ALDH1L1 (3q21.3)TMCC1 (3q22.1) / ALDH1L1 (3q21.3)APC 5q22.2 / ALDH1L1 3q21.3
CNBP 3q21.3 / ALDH1L1 3q21.3TMCC1 3q22.1 / ALDH1L1 3q21.3

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) [ 3 ]
  CNBP/ALDH1L1 (3q21)
t(3;3)(q21;q22) TMCC1/ALDH1L1
t(3;5)(q21;q22) APC/ALDH1L1

External links

Nomenclature
HGNC (Hugo)ALDH1L1   3978
Cards
Entrez_Gene (NCBI)ALDH1L1  10840  aldehyde dehydrogenase 1 family member L1
Aliases10-FTHFDH; 10-fTHF; FDH; FTHFD
GeneCards (Weizmann)ALDH1L1
Ensembl hg19 (Hinxton)ENSG00000144908 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144908 [Gene_View]  ENSG00000144908 [Sequence]  chr3:126103561-126180802 [Contig_View]  ALDH1L1 [Vega]
ICGC DataPortalENSG00000144908
TCGA cBioPortalALDH1L1
AceView (NCBI)ALDH1L1
Genatlas (Paris)ALDH1L1
WikiGenes10840
SOURCE (Princeton)ALDH1L1
Genetics Home Reference (NIH)ALDH1L1
Genomic and cartography
GoldenPath hg38 (UCSC)ALDH1L1  -     chr3:126103561-126180802 -  3q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALDH1L1  -     3q21.3   [Description]    (hg19-Feb_2009)
ALDH1L1 - 3q21.3 [CytoView hg19]  ALDH1L1 - 3q21.3 [CytoView hg38]
Mapping of homologs : NCBIALDH1L1 [Mapview hg19]  ALDH1L1 [Mapview hg38]
OMIM600249   
Gene and transcription
Genbank (Entrez)AA639766 AB209299 AF052732 AK124908 AK222535
RefSeq transcript (Entrez)NM_001270364 NM_001270365 NM_012190
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALDH1L1
Cluster EST : UnigeneHs.434435 [ NCBI ]
CGAP (NCI)Hs.434435
Alternative Splicing GalleryENSG00000144908
Gene ExpressionALDH1L1 [ NCBI-GEO ]   ALDH1L1 [ EBI - ARRAY_EXPRESS ]   ALDH1L1 [ SEEK ]   ALDH1L1 [ MEM ]
Gene Expression Viewer (FireBrowse)ALDH1L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10840
GTEX Portal (Tissue expression)ALDH1L1
Human Protein AtlasENSG00000144908-ALDH1L1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75891   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75891  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75891
Splice isoforms : SwissVarO75891
Catalytic activity : Enzyme1.5.1.6 [ Enzyme-Expasy ]   1.5.1.61.5.1.6 [ IntEnz-EBI ]   1.5.1.6 [ BRENDA ]   1.5.1.6 [ KEGG ]   
PhosPhoSitePlusO75891
Domaine pattern : Prosite (Expaxy)ALDEHYDE_DEHYDR_CYS (PS00070)    ALDEHYDE_DEHYDR_GLU (PS00687)    CARRIER (PS50075)    GART (PS00373)   
Domains : Interpro (EBI)10_FTHF_DH    ACP-like_sf    Ald_DH/histidinol_DH    Ald_DH_C    Ald_DH_CS_CYS    Ald_DH_CS_GLU    Ald_DH_N    Aldehyde_DH_dom    Formyl_trans_C    Formyl_trans_C_sf    Formyl_transf_N    Formyl_transf_N_sf    Formyl_transferase-like_C_sf    GART_AS    PP-bd_ACP   
Domain families : Pfam (Sanger)Aldedh (PF00171)    Formyl_trans_C (PF02911)    Formyl_trans_N (PF00551)    PP-binding (PF00550)   
Domain families : Pfam (NCBI)pfam00171    pfam02911    pfam00551    pfam00550   
Conserved Domain (NCBI)ALDH1L1
DMDM Disease mutations10840
Blocks (Seattle)ALDH1L1
PDB (RSDB)2BW0    2CFI    2CQ8   
PDB Europe2BW0    2CFI    2CQ8   
PDB (PDBSum)2BW0    2CFI    2CQ8   
PDB (IMB)2BW0    2CFI    2CQ8   
Structural Biology KnowledgeBase2BW0    2CFI    2CQ8   
SCOP (Structural Classification of Proteins)2BW0    2CFI    2CQ8   
CATH (Classification of proteins structures)2BW0    2CFI    2CQ8   
SuperfamilyO75891
Human Protein Atlas [tissue]ENSG00000144908-ALDH1L1 [tissue]
Peptide AtlasO75891
HPRD02594
IPIIPI00290553   IPI00793502   IPI00445969   IPI00158280   IPI00793673   IPI00792950   IPI00945327   IPI00947516   IPI00947009   IPI00967821   IPI00966217   
Protein Interaction databases
DIP (DOE-UCLA)O75891
IntAct (EBI)O75891
FunCoupENSG00000144908
BioGRIDALDH1L1
STRING (EMBL)ALDH1L1
ZODIACALDH1L1
Ontologies - Pathways
QuickGOO75891
Ontology : AmiGOcatalytic activity  aldehyde dehydrogenase (NAD) activity  aldehyde dehydrogenase (NAD) activity  cytosol  cytosol  one-carbon metabolic process  biosynthetic process  10-formyltetrahydrofolate catabolic process  formyltetrahydrofolate dehydrogenase activity  formyltetrahydrofolate dehydrogenase activity  hydroxymethyl-, formyl- and related transferase activity  folic acid metabolic process  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBIcatalytic activity  aldehyde dehydrogenase (NAD) activity  aldehyde dehydrogenase (NAD) activity  cytosol  cytosol  one-carbon metabolic process  biosynthetic process  10-formyltetrahydrofolate catabolic process  formyltetrahydrofolate dehydrogenase activity  formyltetrahydrofolate dehydrogenase activity  hydroxymethyl-, formyl- and related transferase activity  folic acid metabolic process  oxidation-reduction process  extracellular exosome  
Pathways : KEGGOne carbon pool by folate   
NDEx NetworkALDH1L1
Atlas of Cancer Signalling NetworkALDH1L1
Wikipedia pathwaysALDH1L1
Orthology - Evolution
OrthoDB10840
GeneTree (enSembl)ENSG00000144908
Phylogenetic Trees/Animal Genes : TreeFamALDH1L1
HOGENOMO75891
Homologs : HomoloGeneALDH1L1
Homology/Alignments : Family Browser (UCSC)ALDH1L1
Gene fusions - Rearrangements
Fusion : MitelmanAPC/ALDH1L1 [5q22.2/3q21.3]  [t(3;5)(q21;q22)]  
Fusion : MitelmanCNBP/ALDH1L1 [3q21.3/3q21.3]  [t(3;3)(q21;q21)]  
Fusion : MitelmanTMCC1/ALDH1L1 [3q22.1/3q21.3]  [t(3;3)(q21;q22)]  
Fusion PortalAPC 5q22.2 ALDH1L1 3q21.3 KIRC
Fusion PortalCNBP 3q21.3 ALDH1L1 3q21.3 LGG
Fusion PortalTMCC1 3q22.1 ALDH1L1 3q21.3 BRCA
Fusion : QuiverALDH1L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALDH1L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALDH1L1
dbVarALDH1L1
ClinVarALDH1L1
1000_GenomesALDH1L1 
Exome Variant ServerALDH1L1
ExAC (Exome Aggregation Consortium)ENSG00000144908
GNOMAD BrowserENSG00000144908
Varsome BrowserALDH1L1
Genetic variants : HAPMAP10840
Genomic Variants (DGV)ALDH1L1 [DGVbeta]
DECIPHERALDH1L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALDH1L1 
Mutations
ICGC Data PortalALDH1L1 
TCGA Data PortalALDH1L1 
Broad Tumor PortalALDH1L1
OASIS PortalALDH1L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALDH1L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALDH1L1
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ALDH1L1
DgiDB (Drug Gene Interaction Database)ALDH1L1
DoCM (Curated mutations)ALDH1L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALDH1L1 (select a term)
intoGenALDH1L1
Cancer3DALDH1L1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600249   
Orphanet
DisGeNETALDH1L1
MedgenALDH1L1
Genetic Testing Registry ALDH1L1
NextProtO75891 [Medical]
TSGene10840
GENETestsALDH1L1
Target ValidationALDH1L1
Huge Navigator ALDH1L1 [HugePedia]
snp3D : Map Gene to Disease10840
BioCentury BCIQALDH1L1
ClinGenALDH1L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10840
Chemical/Pharm GKB GenePA28393
Clinical trialALDH1L1
Miscellaneous
canSAR (ICR)ALDH1L1 (select the gene name)
DataMed IndexALDH1L1
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALDH1L1
EVEXALDH1L1
GoPubMedALDH1L1
iHOPALDH1L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 21 15:35:37 CET 2019
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