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ALDH1A1 (aldehyde dehydrogenase 1 family member A1)

Identity

Alias_namesPUMB1
ALDH1
aldehyde dehydrogenase 1 family
Alias_symbol (synonym)RALDH1
Other aliasALDC
ALDH-E1
ALDH11
HEL-9
HEL-S-53e
HEL12
HGNC (Hugo) ALDH1A1
LocusID (NCBI) 216
Atlas_Id 53077
Location 9q21.13  [Link to chromosome band 9q21]
Location_base_pair Starts at 72900662 and ends at 72953317 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		ALDH1A1 (9q21.13) / ALDH1A1 (9q21.13)ALDH1A1 (9q21.13) / ELL (19p13.11)ALDH1A1 (9q21.13) / EPB41L4A (5q22.1)
ALDH1A1 (9q21.13) / YBX1 (1p34.2)HSPA8 (11q24.1) / ALDH1A1 (9q21.13)

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)ALDH1A1   402
Cards
Entrez_Gene (NCBI)ALDH1A1  216  aldehyde dehydrogenase 1 family member A1
AliasesALDC; ALDH-E1; ALDH1; ALDH11; 
HEL-9; HEL-S-53e; HEL12; PUMB1; RALDH1
GeneCards (Weizmann)ALDH1A1
Ensembl hg19 (Hinxton)ENSG00000165092 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165092 [Gene_View]  chr9:72900662-72953317 [Contig_View]  ALDH1A1 [Vega]
ICGC DataPortalENSG00000165092
TCGA cBioPortalALDH1A1
AceView (NCBI)ALDH1A1
Genatlas (Paris)ALDH1A1
WikiGenes216
SOURCE (Princeton)ALDH1A1
Genetics Home Reference (NIH)ALDH1A1
Genomic and cartography
GoldenPath hg38 (UCSC)ALDH1A1  -     chr9:72900662-72953317 -  9q21.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALDH1A1  -     9q21.13   [Description]    (hg19-Feb_2009)
EnsemblALDH1A1 - 9q21.13 [CytoView hg19]  ALDH1A1 - 9q21.13 [CytoView hg38]
Mapping of homologs : NCBIALDH1A1 [Mapview hg19]  ALDH1A1 [Mapview hg38]
OMIM100640   
Gene and transcription
Genbank (Entrez)AB209821 AF003341 AI074764 AK000118 AK026641
RefSeq transcript (Entrez)NM_000689
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALDH1A1
Cluster EST : UnigeneHs.76392 [ NCBI ]
CGAP (NCI)Hs.76392
Alternative Splicing GalleryENSG00000165092
Gene ExpressionALDH1A1 [ NCBI-GEO ]   ALDH1A1 [ EBI - ARRAY_EXPRESS ]   ALDH1A1 [ SEEK ]   ALDH1A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ALDH1A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)216
GTEX Portal (Tissue expression)ALDH1A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00352   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00352  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00352
Splice isoforms : SwissVarP00352
PhosPhoSitePlusP00352
Domaine pattern : Prosite (Expaxy)ALDEHYDE_DEHYDR_CYS (PS00070)    ALDEHYDE_DEHYDR_GLU (PS00687)   
Domains : Interpro (EBI)Ald_DH/histidinol_DH    Ald_DH_C    Ald_DH_CS_CYS    Ald_DH_CS_GLU    Ald_DH_N    Aldehyde_DH_dom   
Domain families : Pfam (Sanger)Aldedh (PF00171)   
Domain families : Pfam (NCBI)pfam00171   
Conserved Domain (NCBI)ALDH1A1
DMDM Disease mutations216
Blocks (Seattle)ALDH1A1
PDB (SRS)4WB9    4WJ9    4WP7    4WPN    4X4L    5AC2   
PDB (PDBSum)4WB9    4WJ9    4WP7    4WPN    4X4L    5AC2   
PDB (IMB)4WB9    4WJ9    4WP7    4WPN    4X4L    5AC2   
PDB (RSDB)4WB9    4WJ9    4WP7    4WPN    4X4L    5AC2   
Structural Biology KnowledgeBase4WB9    4WJ9    4WP7    4WPN    4X4L    5AC2   
SCOP (Structural Classification of Proteins)4WB9    4WJ9    4WP7    4WPN    4X4L    5AC2   
CATH (Classification of proteins structures)4WB9    4WJ9    4WP7    4WPN    4X4L    5AC2   
SuperfamilyP00352
Human Protein AtlasENSG00000165092
Peptide AtlasP00352
HPRD00001
IPIIPI00218914   IPI00910463   IPI00642144   IPI00644077   IPI00644628   
Protein Interaction databases
DIP (DOE-UCLA)P00352
IntAct (EBI)P00352
FunCoupENSG00000165092
BioGRIDALDH1A1
STRING (EMBL)ALDH1A1
ZODIACALDH1A1
Ontologies - Pathways
QuickGOP00352
Ontology : AmiGOretinoid metabolic process  retinal dehydrogenase activity  retinal dehydrogenase activity  aldehyde dehydrogenase (NAD) activity  aldehyde dehydrogenase (NAD) activity  GTPase activator activity  androgen binding  cytoplasm  cytosol  cytosol  cytosol  ethanol oxidation  cellular aldehyde metabolic process  benzaldehyde dehydrogenase (NAD+) activity  retinol metabolic process  positive regulation of GTPase activity  NAD binding  oxidation-reduction process  fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate  extracellular exosome  
Ontology : EGO-EBIretinoid metabolic process  retinal dehydrogenase activity  retinal dehydrogenase activity  aldehyde dehydrogenase (NAD) activity  aldehyde dehydrogenase (NAD) activity  GTPase activator activity  androgen binding  cytoplasm  cytosol  cytosol  cytosol  ethanol oxidation  cellular aldehyde metabolic process  benzaldehyde dehydrogenase (NAD+) activity  retinol metabolic process  positive regulation of GTPase activity  NAD binding  oxidation-reduction process  fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate  extracellular exosome  
Pathways : KEGGRetinol metabolism   
NDEx NetworkALDH1A1
Atlas of Cancer Signalling NetworkALDH1A1
Wikipedia pathwaysALDH1A1
Orthology - Evolution
OrthoDB216
GeneTree (enSembl)ENSG00000165092
Phylogenetic Trees/Animal Genes : TreeFamALDH1A1
HOVERGENP00352
HOGENOMP00352
Homologs : HomoloGeneALDH1A1
Homology/Alignments : Family Browser (UCSC)ALDH1A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALDH1A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALDH1A1
dbVarALDH1A1
ClinVarALDH1A1
1000_GenomesALDH1A1 
Exome Variant ServerALDH1A1
ExAC (Exome Aggregation Consortium)ALDH1A1 (select the gene name)
Genetic variants : HAPMAP216
Genomic Variants (DGV)ALDH1A1 [DGVbeta]
DECIPHERALDH1A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALDH1A1 
Mutations
ICGC Data PortalALDH1A1 
TCGA Data PortalALDH1A1 
Broad Tumor PortalALDH1A1
OASIS PortalALDH1A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALDH1A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALDH1A1
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
BioMutasearch ALDH1A1
DgiDB (Drug Gene Interaction Database)ALDH1A1
DoCM (Curated mutations)ALDH1A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALDH1A1 (select a term)
intoGenALDH1A1
Cancer3DALDH1A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM100640   
Orphanet
MedgenALDH1A1
Genetic Testing Registry ALDH1A1
NextProtP00352 [Medical]
TSGene216
GENETestsALDH1A1
Target ValidationALDH1A1
Huge Navigator ALDH1A1 [HugePedia]
snp3D : Map Gene to Disease216
BioCentury BCIQALDH1A1
ClinGenALDH1A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD216
Chemical/Pharm GKB GenePA24692
Clinical trialALDH1A1
Miscellaneous
canSAR (ICR)ALDH1A1 (select the gene name)
Probes
Litterature
PubMed248 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALDH1A1
EVEXALDH1A1
GoPubMedALDH1A1
iHOPALDH1A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:54:46 CEST 2017
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