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AKR1A1 (aldo-keto reductase family 1 member A1)

Identity

Alias (NCBI)ALDR1
ALR
ARM
DD3
HEL-S-6
HGNC (Hugo) AKR1A1
HGNC Alias symbALR
DD3
HGNC Alias namedihydrodiol dehydrogenase 3
 aldehyde reductase
HGNC Previous namealdo-keto reductase family 1, member A1 (aldehyde reductase)
LocusID (NCBI) 10327
Atlas_Id 46740
Location 1p34.1  [Link to chromosome band 1p34]
Location_base_pair Starts at 45550826 and ends at 45570049 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)
AKR1A1 (1p34.1)::AKR1A1 (1p34.1)AKR1A1 (1p34.1)::CBY1 (22q13.1)AKR1A1 (1p34.1)::MED20 (6p21.1)
MAST2 (1p34.1)::AKR1A1 (1p34.1)PRDX1 (1p34.1)::AKR1A1 (1p34.1)

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)AKR1A1   380
Cards
Entrez_Gene (NCBI)AKR1A1    aldo-keto reductase family 1 member A1
AliasesALDR1; ALR; ARM; DD3; 
HEL-S-6
GeneCards (Weizmann)AKR1A1
Ensembl hg19 (Hinxton)ENSG00000117448 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117448 [Gene_View]  ENSG00000117448 [Sequence]  chr1:45550826-45570049 [Contig_View]  AKR1A1 [Vega]
ICGC DataPortalENSG00000117448
TCGA cBioPortalAKR1A1
AceView (NCBI)AKR1A1
Genatlas (Paris)AKR1A1
SOURCE (Princeton)AKR1A1
Genetics Home Reference (NIH)AKR1A1
Genomic and cartography
GoldenPath hg38 (UCSC)AKR1A1  -     chr1:45550826-45570049 +  1p34.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AKR1A1  -     1p34.1   [Description]    (hg19-Feb_2009)
GoldenPathAKR1A1 - 1p34.1 [CytoView hg19]  AKR1A1 - 1p34.1 [CytoView hg38]
ImmunoBaseENSG00000117448
Genome Data Viewer NCBIAKR1A1 [Mapview hg19]  
OMIM103830   
Gene and transcription
Genbank (Entrez)AK293083 AK307068 AK307237 AK307288 AK311175
RefSeq transcript (Entrez)NM_001202413 NM_001202414 NM_006066 NM_153326
Consensus coding sequences : CCDS (NCBI)AKR1A1
Gene ExpressionAKR1A1 [ NCBI-GEO ]   AKR1A1 [ EBI - ARRAY_EXPRESS ]   AKR1A1 [ SEEK ]   AKR1A1 [ MEM ]
Gene Expression Viewer (FireBrowse)AKR1A1 [ Firebrowse - Broad ]
GenevisibleExpression of AKR1A1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10327
GTEX Portal (Tissue expression)AKR1A1
Human Protein AtlasENSG00000117448-AKR1A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14550   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP14550  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14550
PhosPhoSitePlusP14550
Domaine pattern : Prosite (Expaxy)ALDOKETO_REDUCTASE_1 (PS00798)    ALDOKETO_REDUCTASE_2 (PS00062)    ALDOKETO_REDUCTASE_3 (PS00063)   
Domains : Interpro (EBI)Aldo/ket_reductase_CS    Aldo/keto_reductase    NADP_OxRdtase_dom    NADP_OxRdtase_dom_sf   
Domain families : Pfam (Sanger)Aldo_ket_red (PF00248)   
Domain families : Pfam (NCBI)pfam00248   
Conserved Domain (NCBI)AKR1A1
PDB (RSDB)2ALR   
PDB Europe2ALR   
PDB (PDBSum)2ALR   
PDB (IMB)2ALR   
Structural Biology KnowledgeBase2ALR   
SCOP (Structural Classification of Proteins)2ALR   
CATH (Classification of proteins structures)2ALR   
SuperfamilyP14550
AlphaFold pdb e-kbP14550   
Human Protein Atlas [tissue]ENSG00000117448-AKR1A1 [tissue]
HPRD00069
Protein Interaction databases
DIP (DOE-UCLA)P14550
IntAct (EBI)P14550
BioGRIDAKR1A1
STRING (EMBL)AKR1A1
ZODIACAKR1A1
Ontologies - Pathways
QuickGOP14550
Ontology : AmiGOalditol:NADP+ 1-oxidoreductase activity  aldo-keto reductase (NADP) activity  NAD-retinol dehydrogenase activity  protein binding  extracellular space  cytosol  cytosol  cytosol  lipid metabolic process  apical plasma membrane  glucuronate catabolic process to xylulose 5-phosphate  L-ascorbic acid biosynthetic process  D-glucuronate catabolic process  daunorubicin metabolic process  doxorubicin metabolic process  synapse  aldehyde catabolic process  allyl-alcohol dehydrogenase activity  D-threo-aldose 1-dehydrogenase activity  L-glucuronate reductase activity  L-glucuronate reductase activity  glucuronolactone reductase activity  glycerol dehydrogenase [NADP+] activity  extracellular exosome  cellular detoxification of aldehyde  glutathione derivative biosynthetic process  methylglyoxal reductase (NADPH-dependent, acetol producing)  
Ontology : EGO-EBIalditol:NADP+ 1-oxidoreductase activity  aldo-keto reductase (NADP) activity  NAD-retinol dehydrogenase activity  protein binding  extracellular space  cytosol  cytosol  cytosol  lipid metabolic process  apical plasma membrane  glucuronate catabolic process to xylulose 5-phosphate  L-ascorbic acid biosynthetic process  D-glucuronate catabolic process  daunorubicin metabolic process  doxorubicin metabolic process  synapse  aldehyde catabolic process  allyl-alcohol dehydrogenase activity  D-threo-aldose 1-dehydrogenase activity  L-glucuronate reductase activity  L-glucuronate reductase activity  glucuronolactone reductase activity  glycerol dehydrogenase [NADP+] activity  extracellular exosome  cellular detoxification of aldehyde  glutathione derivative biosynthetic process  methylglyoxal reductase (NADPH-dependent, acetol producing)  
Pathways : KEGGKEGG_GLYCEROLIPID_METABOLISM    KEGG_GLYCOLYSIS_GLUCONEOGENESIS   
NDEx NetworkAKR1A1
Atlas of Cancer Signalling NetworkAKR1A1
Wikipedia pathwaysAKR1A1
Orthology - Evolution
OrthoDB10327
GeneTree (enSembl)ENSG00000117448
Phylogenetic Trees/Animal Genes : TreeFamAKR1A1
Homologs : HomoloGeneAKR1A1
Homology/Alignments : Family Browser (UCSC)AKR1A1
Gene fusions - Rearrangements
Fusion : QuiverAKR1A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKR1A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKR1A1
dbVarAKR1A1
ClinVarAKR1A1
MonarchAKR1A1
1000_GenomesAKR1A1 
Exome Variant ServerAKR1A1
GNOMAD BrowserENSG00000117448
Varsome BrowserAKR1A1
ACMGAKR1A1 variants
VarityP14550
Genomic Variants (DGV)AKR1A1 [DGVbeta]
DECIPHERAKR1A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAKR1A1 
Mutations
ICGC Data PortalAKR1A1 
TCGA Data PortalAKR1A1 
Broad Tumor PortalAKR1A1
OASIS PortalAKR1A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAKR1A1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAKR1A1
Mutations and Diseases : HGMDAKR1A1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAKR1A1
DgiDB (Drug Gene Interaction Database)AKR1A1
DoCM (Curated mutations)AKR1A1
CIViC (Clinical Interpretations of Variants in Cancer)AKR1A1
Cancer3DAKR1A1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM103830   
Orphanet
DisGeNETAKR1A1
MedgenAKR1A1
Genetic Testing Registry AKR1A1
NextProtP14550 [Medical]
GENETestsAKR1A1
Target ValidationAKR1A1
Huge Navigator AKR1A1 [HugePedia]
ClinGenAKR1A1
Clinical trials, drugs, therapy
MyCancerGenomeAKR1A1
Protein Interactions : CTDAKR1A1
Pharm GKB GenePA24674
Pharm GKB PathwaysPA165292164   PA165292177   PA2035   PA2038   
PharosP14550
Clinical trialAKR1A1
Miscellaneous
canSAR (ICR)AKR1A1
HarmonizomeAKR1A1
ARCHS4AKR1A1
DataMed IndexAKR1A1
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAKR1A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 20 12:22:01 CET 2022

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