Gene Gene information from NCBI Gene database.
Entrez ID 10327
Gene name Aldo-keto reductase family 1 member A1
Gene symbol AKR1A1
Synonyms (NCBI Gene)
ALDR1ALRARMDD3HEL-S-6
Chromosome 1
Chromosome location 1p34.1
Summary This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present i
miRNA miRNA information provided by mirtarbase database.
3
miRTarBase ID miRNA Experiments Reference
MIRT025351 hsa-miR-34a-5p Proteomics 21566225
MIRT032282 hsa-let-7b-5p Proteomics 18668040
MIRT045288 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0004032 Function Aldose reductase (NADPH) activity IBA
GO:0004032 Function Aldose reductase (NADPH) activity IEA
GO:0004032 Function Aldose reductase (NADPH) activity TAS 2498333
GO:0004745 Function All-trans-retinol dehydrogenase (NAD+) activity ISS
GO:0005515 Function Protein binding IPI 21044950, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
103830 380 ENSG00000117448
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14550
Protein name Aldo-keto reductase family 1 member A1 (EC 1.1.1.2) (EC 1.1.1.372) (EC 1.1.1.54) (Alcohol dehydrogenase [NADP(+)]) (Aldehyde reductase) (Glucuronate reductase) (EC 1.1.1.19) (Glucuronolactone reductase) (EC 1.1.1.20) (S-nitroso-CoA reductase) (ScorR) (EC
Protein function Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols (PubMed:10510318, PubMed:30538128). Displays enzymatic activity towards endogenous metabolites such as aromatic and alipha
PDB 2ALR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00248 Aldo_ket_red 16 294 Aldo/keto reductase family Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in kidney, salivary gland and liver. Detected in trachea, stomach, brain, lung, prostate, placenta, mammary gland, small intestine and lung. {ECO:0000269|PubMed:10486210, ECO:0000269|PubMed:10510318,
Sequence
Sequence length 325
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Pentose and glucuronate interconversions
Ascorbate and aldarate metabolism
Glycerolipid metabolism
Pyruvate metabolism
Metabolic pathways
Biosynthesis of cofactors
Chemical carcinogenesis - reactive oxygen species
  Glutathione conjugation
Formation of xylulose-5-phosphate
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 20494945
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 29511434
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17665311
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 17665311
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 28769575
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 12750236, 14578131
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 11471570, 12173598, 29637855
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 15370542, 16123405, 18235016, 28387762, 30820012
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 10600649 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 21276435
★☆☆☆☆
Found in Text Mining only