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ALDH8A1 (aldehyde dehydrogenase 8 family member A1)

Identity

Alias_namesaldehyde dehydrogenase 8 family, member A1
Alias_symbol (synonym)ALDH12
Other aliasDJ352A20.2
HGNC (Hugo) ALDH8A1
LocusID (NCBI) 64577
Atlas_Id 60244
Location 6q23.3  [Link to chromosome band 6q23]
Location_base_pair Starts at 134917390 and ends at 134950122 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)

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)ALDH8A1   15471
Cards
Entrez_Gene (NCBI)ALDH8A1  64577  aldehyde dehydrogenase 8 family member A1
AliasesALDH12; DJ352A20.2
GeneCards (Weizmann)ALDH8A1
Ensembl hg19 (Hinxton)ENSG00000118514 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118514 [Gene_View]  chr6:134917390-134950122 [Contig_View]  ALDH8A1 [Vega]
ICGC DataPortalENSG00000118514
TCGA cBioPortalALDH8A1
AceView (NCBI)ALDH8A1
Genatlas (Paris)ALDH8A1
WikiGenes64577
SOURCE (Princeton)ALDH8A1
Genetics Home Reference (NIH)ALDH8A1
Genomic and cartography
GoldenPath hg38 (UCSC)ALDH8A1  -     chr6:134917390-134950122 -  6q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALDH8A1  -     6q23.3   [Description]    (hg19-Feb_2009)
EnsemblALDH8A1 - 6q23.3 [CytoView hg19]  ALDH8A1 - 6q23.3 [CytoView hg38]
Mapping of homologs : NCBIALDH8A1 [Mapview hg19]  ALDH8A1 [Mapview hg38]
OMIM606467   
Gene and transcription
Genbank (Entrez)AF303134 AK074266 AK222848 AK290784 AK298325
RefSeq transcript (Entrez)NM_001193480 NM_022568 NM_170771
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALDH8A1
Cluster EST : UnigeneHs.486520 [ NCBI ]
CGAP (NCI)Hs.486520
Alternative Splicing GalleryENSG00000118514
Gene ExpressionALDH8A1 [ NCBI-GEO ]   ALDH8A1 [ EBI - ARRAY_EXPRESS ]   ALDH8A1 [ SEEK ]   ALDH8A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ALDH8A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64577
GTEX Portal (Tissue expression)ALDH8A1
Human Protein AtlasENSG00000118514-ALDH8A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H2A2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H2A2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H2A2
Splice isoforms : SwissVarQ9H2A2
Catalytic activity : Enzyme1.2.1.- [ Enzyme-Expasy ]   1.2.1.-1.2.1.- [ IntEnz-EBI ]   1.2.1.- [ BRENDA ]   1.2.1.- [ KEGG ]   
PhosPhoSitePlusQ9H2A2
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)ALDH8A1
DMDM Disease mutations64577
Blocks (Seattle)ALDH8A1
SuperfamilyQ9H2A2
Human Protein Atlas [tissue]ENSG00000118514-ALDH8A1 [tissue]
Peptide AtlasQ9H2A2
HPRD06974
IPIIPI00171391   IPI00172476   IPI00878117   IPI00921838   IPI00979266   IPI00979889   
Protein Interaction databases
DIP (DOE-UCLA)Q9H2A2
IntAct (EBI)Q9H2A2
FunCoupENSG00000118514
BioGRIDALDH8A1
STRING (EMBL)ALDH8A1
ZODIACALDH8A1
Ontologies - Pathways
QuickGOQ9H2A2
Ontology : AmiGOretinal dehydrogenase activity  retinal dehydrogenase activity  intracellular  cytosol  retinoic acid metabolic process  retinal metabolic process  9-cis-retinoic acid biosynthetic process  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBIretinal dehydrogenase activity  retinal dehydrogenase activity  intracellular  cytosol  retinoic acid metabolic process  retinal metabolic process  9-cis-retinoic acid biosynthetic process  oxidation-reduction process  extracellular exosome  
NDEx NetworkALDH8A1
Atlas of Cancer Signalling NetworkALDH8A1
Wikipedia pathwaysALDH8A1
Orthology - Evolution
OrthoDB64577
GeneTree (enSembl)ENSG00000118514
Phylogenetic Trees/Animal Genes : TreeFamALDH8A1
HOVERGENQ9H2A2
HOGENOMQ9H2A2
Homologs : HomoloGeneALDH8A1
Homology/Alignments : Family Browser (UCSC)ALDH8A1
Gene fusions - Rearrangements
Fusion : QuiverALDH8A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALDH8A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALDH8A1
dbVarALDH8A1
ClinVarALDH8A1
1000_GenomesALDH8A1 
Exome Variant ServerALDH8A1
ExAC (Exome Aggregation Consortium)ENSG00000118514
GNOMAD BrowserENSG00000118514
Genetic variants : HAPMAP64577
Genomic Variants (DGV)ALDH8A1 [DGVbeta]
DECIPHERALDH8A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALDH8A1 
Mutations
ICGC Data PortalALDH8A1 
TCGA Data PortalALDH8A1 
Broad Tumor PortalALDH8A1
OASIS PortalALDH8A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALDH8A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALDH8A1
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 ALDH8A1
DgiDB (Drug Gene Interaction Database)ALDH8A1
DoCM (Curated mutations)ALDH8A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALDH8A1 (select a term)
intoGenALDH8A1
Cancer3DALDH8A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606467   
Orphanet
DisGeNETALDH8A1
MedgenALDH8A1
Genetic Testing Registry ALDH8A1
NextProtQ9H2A2 [Medical]
TSGene64577
GENETestsALDH8A1
Target ValidationALDH8A1
Huge Navigator ALDH8A1 [HugePedia]
snp3D : Map Gene to Disease64577
BioCentury BCIQALDH8A1
ClinGenALDH8A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64577
Chemical/Pharm GKB GenePA24705
Clinical trialALDH8A1
Miscellaneous
canSAR (ICR)ALDH8A1 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALDH8A1
EVEXALDH8A1
GoPubMedALDH8A1
iHOPALDH8A1
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 Feb 23 18:10:36 CET 2018

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