Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ALDH5A1 (aldehyde dehydrogenase 5 family member A1)

Identity

Other aliasSSADH
SSDH
HGNC (Hugo) ALDH5A1
LocusID (NCBI) 7915
Atlas_Id 57398
Location 6p22.3  [Link to chromosome band 6p22]
Location_base_pair Starts at 24494969 and ends at 24537207 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)
ALDH5A1 (6p22.3) / MAP3K5 (6q23.3)GPLD1 (6p22.3) / ALDH5A1 (6p22.3)

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) [ 1 ]
  t(6;6)(p22;q23) ALDH5A1/MAP3K5


External links

Nomenclature
HGNC (Hugo)ALDH5A1   408
Cards
Entrez_Gene (NCBI)ALDH5A1  7915  aldehyde dehydrogenase 5 family member A1
AliasesSSADH; SSDH
GeneCards (Weizmann)ALDH5A1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  chr6:24494969-24537207 [Contig_View]  ALDH5A1 [Vega]
TCGA cBioPortalALDH5A1
AceView (NCBI)ALDH5A1
Genatlas (Paris)ALDH5A1
WikiGenes7915
SOURCE (Princeton)ALDH5A1
Genetics Home Reference (NIH)ALDH5A1
Genomic and cartography
GoldenPath hg38 (UCSC)ALDH5A1  -     chr6:24494969-24537207 +  6p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALDH5A1  -     6p22.3   [Description]    (hg19-Feb_2009)
EnsemblALDH5A1 - 6p22.3 [CytoView hg19]  ALDH5A1 - 6p22.3 [CytoView hg38]
Mapping of homologs : NCBIALDH5A1 [Mapview hg19]  ALDH5A1 [Mapview hg38]
OMIM271980   610045   
Gene and transcription
Genbank (Entrez)AJ427353 AJ427354 AJ427355 AK025722 AK290800
RefSeq transcript (Entrez)NM_001080 NM_170740
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALDH5A1
Cluster EST : UnigeneHs.371723 [ NCBI ]
CGAP (NCI)Hs.371723
Gene ExpressionALDH5A1 [ NCBI-GEO ]   ALDH5A1 [ EBI - ARRAY_EXPRESS ]   ALDH5A1 [ SEEK ]   ALDH5A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ALDH5A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7915
GTEX Portal (Tissue expression)ALDH5A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51649   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51649  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51649
Splice isoforms : SwissVarP51649
Catalytic activity : Enzyme1.2.1.24 [ Enzyme-Expasy ]   1.2.1.241.2.1.24 [ IntEnz-EBI ]   1.2.1.24 [ BRENDA ]   1.2.1.24 [ KEGG ]   
PhosPhoSitePlusP51649
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    Succ_semiAld_DH   
Domain families : Pfam (Sanger)Aldedh (PF00171)   
Domain families : Pfam (NCBI)pfam00171   
Conserved Domain (NCBI)ALDH5A1
DMDM Disease mutations7915
Blocks (Seattle)ALDH5A1
PDB (SRS)2W8N    2W8O    2W8P    2W8Q    2W8R   
PDB (PDBSum)2W8N    2W8O    2W8P    2W8Q    2W8R   
PDB (IMB)2W8N    2W8O    2W8P    2W8Q    2W8R   
PDB (RSDB)2W8N    2W8O    2W8P    2W8Q    2W8R   
Structural Biology KnowledgeBase2W8N    2W8O    2W8P    2W8Q    2W8R   
SCOP (Structural Classification of Proteins)2W8N    2W8O    2W8P    2W8Q    2W8R   
CATH (Classification of proteins structures)2W8N    2W8O    2W8P    2W8Q    2W8R   
SuperfamilyP51649
Peptide AtlasP51649
IPIIPI00019888   IPI01012747   IPI00336008   IPI00946558   
Protein Interaction databases
DIP (DOE-UCLA)P51649
IntAct (EBI)P51649
BioGRIDALDH5A1
STRING (EMBL)ALDH5A1
ZODIACALDH5A1
Ontologies - Pathways
QuickGOP51649
Ontology : AmiGOsuccinate-semialdehyde dehydrogenase (NAD+) activity  succinate-semialdehyde dehydrogenase (NAD+) activity  succinate-semialdehyde dehydrogenase (NAD+) activity  succinate-semialdehyde dehydrogenase (NAD+) activity  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  glucose metabolic process  acetate metabolic process  succinate metabolic process  glutamate metabolic process  glutamine metabolic process  glycerophospholipid metabolic process  glucosylceramide metabolic process  galactosylceramide metabolic process  glutathione metabolic process  central nervous system development  succinate-semialdehyde dehydrogenase [NAD(P)+] activity  succinate-semialdehyde dehydrogenase [NAD(P)+] activity  gamma-aminobutyric acid catabolic process  gamma-aminobutyric acid catabolic process  gamma-aminobutyric acid catabolic process  post-embryonic development  respiratory electron transport chain  neurotransmitter catabolic process  protein homodimerization activity  short-chain fatty acid metabolic process  protein homotetramerization  
Ontology : EGO-EBIsuccinate-semialdehyde dehydrogenase (NAD+) activity  succinate-semialdehyde dehydrogenase (NAD+) activity  succinate-semialdehyde dehydrogenase (NAD+) activity  succinate-semialdehyde dehydrogenase (NAD+) activity  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  glucose metabolic process  acetate metabolic process  succinate metabolic process  glutamate metabolic process  glutamine metabolic process  glycerophospholipid metabolic process  glucosylceramide metabolic process  galactosylceramide metabolic process  glutathione metabolic process  central nervous system development  succinate-semialdehyde dehydrogenase [NAD(P)+] activity  succinate-semialdehyde dehydrogenase [NAD(P)+] activity  gamma-aminobutyric acid catabolic process  gamma-aminobutyric acid catabolic process  gamma-aminobutyric acid catabolic process  post-embryonic development  respiratory electron transport chain  neurotransmitter catabolic process  protein homodimerization activity  short-chain fatty acid metabolic process  protein homotetramerization  
Pathways : KEGGAlanine, aspartate and glutamate metabolism    Butanoate metabolism   
NDEx NetworkALDH5A1
Atlas of Cancer Signalling NetworkALDH5A1
Wikipedia pathwaysALDH5A1
Orthology - Evolution
OrthoDB7915
Phylogenetic Trees/Animal Genes : TreeFamALDH5A1
HOVERGENP51649
HOGENOMP51649
Homologs : HomoloGeneALDH5A1
Homology/Alignments : Family Browser (UCSC)ALDH5A1
Gene fusions - Rearrangements
Fusion : QuiverALDH5A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALDH5A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALDH5A1
dbVarALDH5A1
ClinVarALDH5A1
1000_GenomesALDH5A1 
Exome Variant ServerALDH5A1
Varsome BrowserALDH5A1
Genetic variants : HAPMAP7915
Genomic Variants (DGV)ALDH5A1 [DGVbeta]
DECIPHERALDH5A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALDH5A1 
Mutations
ICGC Data PortalALDH5A1 
TCGA Data PortalALDH5A1 
Broad Tumor PortalALDH5A1
OASIS PortalALDH5A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALDH5A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALDH5A1
BioMutasearch ALDH5A1
DgiDB (Drug Gene Interaction Database)ALDH5A1
DoCM (Curated mutations)ALDH5A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALDH5A1 (select a term)
intoGenALDH5A1
Cancer3DALDH5A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM271980    610045   
Orphanet
DisGeNETALDH5A1
MedgenALDH5A1
Genetic Testing Registry ALDH5A1
NextProtP51649 [Medical]
TSGene7915
GENETestsALDH5A1
Target ValidationALDH5A1
Huge Navigator ALDH5A1 [HugePedia]
snp3D : Map Gene to Disease7915
BioCentury BCIQALDH5A1
ClinGenALDH5A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7915
Chemical/Pharm GKB GenePA24702
Clinical trialALDH5A1
Miscellaneous
canSAR (ICR)ALDH5A1 (select the gene name)
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALDH5A1
EVEXALDH5A1
GoPubMedALDH5A1
iHOPALDH5A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 27 11:08:38 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.