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ALDH1A3 (aldehyde dehydrogenase 1 family member A3)

Identity

Alias_namesALDH6
aldehyde dehydrogenase 1 family
Alias_symbol (synonym)RALDH3
Other aliasALDH1A6
MCOP8
HGNC (Hugo) ALDH1A3
LocusID (NCBI) 220
Atlas_Id 53102
Location 15q26.3  [Link to chromosome band 15q26]
Location_base_pair Starts at 100879692 and ends at 100916625 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ALDH1A3 (15q26.3) / ALDH1A3 (15q26.3)ALDH1A3 (15q26.3) / NAPSA (19q13.33)ALDH1A3 (15q26.3) / VPS53 (17p13.3)
FYTTD1 (3q29) / ALDH1A3 (15q26.3)ALDH1A3 15q26.3 / VPS53 17p13.3FYTTD1 3q29 / ALDH1A3 15q26.3

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

 


External links

Nomenclature
HGNC (Hugo)ALDH1A3   409
Cards
Entrez_Gene (NCBI)ALDH1A3  220  aldehyde dehydrogenase 1 family member A3
AliasesALDH1A6; ALDH6; MCOP8; RALDH3
GeneCards (Weizmann)ALDH1A3
Ensembl hg19 (Hinxton)ENSG00000184254 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184254 [Gene_View]  chr15:100879692-100916625 [Contig_View]  ALDH1A3 [Vega]
ICGC DataPortalENSG00000184254
TCGA cBioPortalALDH1A3
AceView (NCBI)ALDH1A3
Genatlas (Paris)ALDH1A3
WikiGenes220
SOURCE (Princeton)ALDH1A3
Genetics Home Reference (NIH)ALDH1A3
Genomic and cartography
GoldenPath hg38 (UCSC)ALDH1A3  -     chr15:100879692-100916625 +  15q26.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALDH1A3  -     15q26.3   [Description]    (hg19-Feb_2009)
EnsemblALDH1A3 - 15q26.3 [CytoView hg19]  ALDH1A3 - 15q26.3 [CytoView hg38]
Mapping of homologs : NCBIALDH1A3 [Mapview hg19]  ALDH1A3 [Mapview hg38]
OMIM600463   615113   
Gene and transcription
Genbank (Entrez)AK056534 AK302607 AK303441 AK312303 AL110109
RefSeq transcript (Entrez)NM_000693 NM_001037224 NM_001293815
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALDH1A3
Cluster EST : UnigeneHs.612155 [ NCBI ]
CGAP (NCI)Hs.612155
Alternative Splicing GalleryENSG00000184254
Gene ExpressionALDH1A3 [ NCBI-GEO ]   ALDH1A3 [ EBI - ARRAY_EXPRESS ]   ALDH1A3 [ SEEK ]   ALDH1A3 [ MEM ]
Gene Expression Viewer (FireBrowse)ALDH1A3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)220
GTEX Portal (Tissue expression)ALDH1A3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP47895   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP47895  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP47895
Splice isoforms : SwissVarP47895
PhosPhoSitePlusP47895
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)ALDH1A3
DMDM Disease mutations220
Blocks (Seattle)ALDH1A3
PDB (SRS)5FHZ   
PDB (PDBSum)5FHZ   
PDB (IMB)5FHZ   
PDB (RSDB)5FHZ   
Structural Biology KnowledgeBase5FHZ   
SCOP (Structural Classification of Proteins)5FHZ   
CATH (Classification of proteins structures)5FHZ   
SuperfamilyP47895
Human Protein AtlasENSG00000184254
Peptide AtlasP47895
HPRD02713
IPIIPI00026663   IPI00908927   IPI00909256   IPI00384967   
Protein Interaction databases
DIP (DOE-UCLA)P47895
IntAct (EBI)P47895
FunCoupENSG00000184254
BioGRIDALDH1A3
STRING (EMBL)ALDH1A3
ZODIACALDH1A3
Ontologies - Pathways
QuickGOP47895
Ontology : AmiGOretinal dehydrogenase activity  retinal dehydrogenase activity  optic cup morphogenesis involved in camera-type eye development  retinoic acid biosynthetic process  aldehyde dehydrogenase (NAD) activity  aldehyde dehydrogenase [NAD(P)+] activity  nucleus  cytoplasm  cytosol  cytosol  plasma membrane  locomotory behavior  nucleus accumbens development  embryonic camera-type eye development  inner ear morphogenesis  retinol metabolic process  retinoic acid metabolic process  retinal metabolic process  protein homodimerization activity  positive regulation of apoptotic process  embryonic eye morphogenesis  neuromuscular process controlling balance  protein homotetramerization  oxidation-reduction process  righting reflex  olfactory pit development  face development  extracellular exosome  thyroid hormone binding  Harderian gland development  NAD+ binding  
Ontology : EGO-EBIretinal dehydrogenase activity  retinal dehydrogenase activity  optic cup morphogenesis involved in camera-type eye development  retinoic acid biosynthetic process  aldehyde dehydrogenase (NAD) activity  aldehyde dehydrogenase [NAD(P)+] activity  nucleus  cytoplasm  cytosol  cytosol  plasma membrane  locomotory behavior  nucleus accumbens development  embryonic camera-type eye development  inner ear morphogenesis  retinol metabolic process  retinoic acid metabolic process  retinal metabolic process  protein homodimerization activity  positive regulation of apoptotic process  embryonic eye morphogenesis  neuromuscular process controlling balance  protein homotetramerization  oxidation-reduction process  righting reflex  olfactory pit development  face development  extracellular exosome  thyroid hormone binding  Harderian gland development  NAD+ binding  
Pathways : KEGG   
NDEx NetworkALDH1A3
Atlas of Cancer Signalling NetworkALDH1A3
Wikipedia pathwaysALDH1A3
Orthology - Evolution
OrthoDB220
GeneTree (enSembl)ENSG00000184254
Phylogenetic Trees/Animal Genes : TreeFamALDH1A3
HOVERGENP47895
HOGENOMP47895
Homologs : HomoloGeneALDH1A3
Homology/Alignments : Family Browser (UCSC)ALDH1A3
Gene fusions - Rearrangements
Fusion : MitelmanALDH1A3/VPS53 [15q26.3/17p13.3]  
Fusion : MitelmanFYTTD1/ALDH1A3 [3q29/15q26.3]  [t(3;15)(q29;q26)]  
Fusion: TCGAALDH1A3 15q26.3 VPS53 17p13.3 PRAD
Fusion: TCGAFYTTD1 3q29 ALDH1A3 15q26.3 LGG
Fusion Cancer (Beijing)ALDH1A3 [15q26.3]  -  NAPSA [19q13.33]  [FUSC003526]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALDH1A3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALDH1A3
dbVarALDH1A3
ClinVarALDH1A3
1000_GenomesALDH1A3 
Exome Variant ServerALDH1A3
ExAC (Exome Aggregation Consortium)ALDH1A3 (select the gene name)
Genetic variants : HAPMAP220
Genomic Variants (DGV)ALDH1A3 [DGVbeta]
DECIPHERALDH1A3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALDH1A3 
Mutations
ICGC Data PortalALDH1A3 
TCGA Data PortalALDH1A3 
Broad Tumor PortalALDH1A3
OASIS PortalALDH1A3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALDH1A3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALDH1A3
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 ALDH1A3
DgiDB (Drug Gene Interaction Database)ALDH1A3
DoCM (Curated mutations)ALDH1A3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALDH1A3 (select a term)
intoGenALDH1A3
Cancer3DALDH1A3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600463    615113   
Orphanet3713   
MedgenALDH1A3
Genetic Testing Registry ALDH1A3
NextProtP47895 [Medical]
TSGene220
GENETestsALDH1A3
Huge Navigator ALDH1A3 [HugePedia]
snp3D : Map Gene to Disease220
BioCentury BCIQALDH1A3
ClinGenALDH1A3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD220
Chemical/Pharm GKB GenePA24694
Clinical trialALDH1A3
Miscellaneous
canSAR (ICR)ALDH1A3 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALDH1A3
EVEXALDH1A3
GoPubMedALDH1A3
iHOPALDH1A3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:05:39 CEST 2017

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