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AKR1A1 (aldo-keto reductase family 1 member A1)

Identity

Alias_namesaldo-keto reductase family 1
Alias_symbol (synonym)ALR
DD3
Other aliasALDR1
ARM
HEL-S-6
HGNC (Hugo) AKR1A1
LocusID (NCBI) 10327
Atlas_Id 46740
Location 1p34.1  [Link to chromosome band 1p34]
Location_base_pair Starts at 45550783 and ends at 45570051 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  10327  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]  chr1:45550783-45570051 [Contig_View]  AKR1A1 [Vega]
ICGC DataPortalENSG00000117448
TCGA cBioPortalAKR1A1
AceView (NCBI)AKR1A1
Genatlas (Paris)AKR1A1
WikiGenes10327
SOURCE (Princeton)AKR1A1
Genetics Home Reference (NIH)AKR1A1
Genomic and cartography
GoldenPath hg38 (UCSC)AKR1A1  -     chr1:45550783-45570051 +  1p34.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AKR1A1  -     1p34.1   [Description]    (hg19-Feb_2009)
EnsemblAKR1A1 - 1p34.1 [CytoView hg19]  AKR1A1 - 1p34.1 [CytoView hg38]
Mapping of homologs : NCBIAKR1A1 [Mapview hg19]  AKR1A1 [Mapview hg38]
OMIM103830   
Gene and transcription
Genbank (Entrez)AK293083 AK307068 AK307237 AK307288 AK311175
RefSeq transcript (Entrez)NM_001202413 NM_001202414 NM_006066 NM_153326
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AKR1A1
Cluster EST : UnigeneHs.721160 [ NCBI ]
CGAP (NCI)Hs.721160
Alternative Splicing GalleryENSG00000117448
Gene ExpressionAKR1A1 [ NCBI-GEO ]   AKR1A1 [ EBI - ARRAY_EXPRESS ]   AKR1A1 [ SEEK ]   AKR1A1 [ MEM ]
Gene Expression Viewer (FireBrowse)AKR1A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10327
GTEX Portal (Tissue expression)AKR1A1
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
Splice isoforms : SwissVarP14550
Catalytic activity : Enzyme1.1.1.2 [ Enzyme-Expasy ]   1.1.1.21.1.1.2 [ IntEnz-EBI ]   1.1.1.2 [ BRENDA ]   1.1.1.2 [ KEGG ]   
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   
Domain families : Pfam (Sanger)Aldo_ket_red (PF00248)   
Domain families : Pfam (NCBI)pfam00248   
Conserved Domain (NCBI)AKR1A1
DMDM Disease mutations10327
Blocks (Seattle)AKR1A1
PDB (SRS)2ALR   
PDB (PDBSum)2ALR   
PDB (IMB)2ALR   
PDB (RSDB)2ALR   
Structural Biology KnowledgeBase2ALR   
SCOP (Structural Classification of Proteins)2ALR   
CATH (Classification of proteins structures)2ALR   
SuperfamilyP14550
Human Protein AtlasENSG00000117448
Peptide AtlasP14550
HPRD00069
IPIIPI00220271   IPI00647702   
Protein Interaction databases
DIP (DOE-UCLA)P14550
IntAct (EBI)P14550
FunCoupENSG00000117448
BioGRIDAKR1A1
STRING (EMBL)AKR1A1
ZODIACAKR1A1
Ontologies - Pathways
QuickGOP14550
Ontology : AmiGOalditol:NADP+ 1-oxidoreductase activity  aldo-keto reductase (NADP) activity  protein binding  extracellular space  cytosol  glucose metabolic process  cellular aldehyde metabolic process  electron carrier activity  apical plasma membrane  glucuronate catabolic process to xylulose 5-phosphate  L-ascorbic acid biosynthetic process  D-glucuronate catabolic process  aldehyde catabolic process  L-glucuronate reductase activity  oxidation-reduction process  extracellular exosome  glutathione derivative biosynthetic process  
Ontology : EGO-EBIalditol:NADP+ 1-oxidoreductase activity  aldo-keto reductase (NADP) activity  protein binding  extracellular space  cytosol  glucose metabolic process  cellular aldehyde metabolic process  electron carrier activity  apical plasma membrane  glucuronate catabolic process to xylulose 5-phosphate  L-ascorbic acid biosynthetic process  D-glucuronate catabolic process  aldehyde catabolic process  L-glucuronate reductase activity  oxidation-reduction process  extracellular exosome  glutathione derivative biosynthetic process  
Pathways : KEGGGlycolysis / Gluconeogenesis    Glycerolipid metabolism   
NDEx NetworkAKR1A1
Atlas of Cancer Signalling NetworkAKR1A1
Wikipedia pathwaysAKR1A1
Orthology - Evolution
OrthoDB10327
GeneTree (enSembl)ENSG00000117448
Phylogenetic Trees/Animal Genes : TreeFamAKR1A1
HOVERGENP14550
HOGENOMP14550
Homologs : HomoloGeneAKR1A1
Homology/Alignments : Family Browser (UCSC)AKR1A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKR1A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKR1A1
dbVarAKR1A1
ClinVarAKR1A1
1000_GenomesAKR1A1 
Exome Variant ServerAKR1A1
ExAC (Exome Aggregation Consortium)AKR1A1 (select the gene name)
Genetic variants : HAPMAP10327
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]  
Mutations and Diseases : HGMDAKR1A1
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 AKR1A1
DgiDB (Drug Gene Interaction Database)AKR1A1
DoCM (Curated mutations)AKR1A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AKR1A1 (select a term)
intoGenAKR1A1
Cancer3DAKR1A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM103830   
Orphanet
MedgenAKR1A1
Genetic Testing Registry AKR1A1
NextProtP14550 [Medical]
TSGene10327
GENETestsAKR1A1
Target ValidationAKR1A1
Huge Navigator AKR1A1 [HugePedia]
snp3D : Map Gene to Disease10327
BioCentury BCIQAKR1A1
ClinGenAKR1A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10327
Chemical/Pharm GKB GenePA24674
Clinical trialAKR1A1
Miscellaneous
canSAR (ICR)AKR1A1 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKR1A1
EVEXAKR1A1
GoPubMedAKR1A1
iHOPAKR1A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 18:56:49 CEST 2017

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