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AKR1B1 aldo-keto reductase family 1 member B [ Homo sapiens (human) ]

Gene ID: 231, updated on 14-Nov-2024

Summary

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Official Symbol
AKR1B1provided by HGNC
Official Full Name
aldo-keto reductase family 1 member Bprovided by HGNC
Primary source
HGNC:HGNC:381
See related
Ensembl:ENSG00000085662 MIM:103880; AllianceGenome:HGNC:381
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AR; ADR; ALR2; ALDR1
Summary
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]
Expression
Biased expression in adrenal (RPKM 1087.3), placenta (RPKM 120.6) and 2 other tissues See more
Orthologs
mouse all
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Genomic context

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See AKR1B1 in Genome Data Viewer
Location:
7q33
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (134442350..134459239, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (135750388..135767276, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (134127102..134143991, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375518 Neighboring gene uncharacterized LOC105375517 Neighboring gene long intergenic non-protein coding RNA 3060 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:134132907-134134106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18673 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:134147917-134148417 Neighboring gene endogenous retrovirus group 48 member 1, envelope pseudogene Neighboring gene Sharpr-MPRA regulatory region 13664 Neighboring gene aldo-keto reductase family 1 member B10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Aldose reductase C-106T polymorphism is associated with the risk of essential hypertension. Wang Y, et al. Gene, 2016 Oct 10. PMID 27343777
  2. Association of glomerulopathy with the 5'-end polymorphism of the aldose reductase gene and renal insufficiency in type 2 diabetic patients. Zhao HL, et al. Diabetes, 2004 Nov. PMID 15504980
  3. Inhibition of aldose reductase attenuates TNF-alpha-induced expression of adhesion molecules in endothelial cells. Ramana KV, et al. FASEB J, 2004 Aug. PMID 15284221
  4. Central role for aldose reductase pathway in myocardial ischemic injury. Hwang YC, et al. FASEB J, 2004 Aug. PMID 15284219
  5. Prostaglandin (PG) F2 alpha synthesis in human subcutaneous and omental adipose tissue: modulation by inflammatory cytokines and role of the human aldose reductase AKR1B1. Michaud A, et al. PLoS One, 2014. PMID 24663124, Free PMC Article

See all (228) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SMARCA5 reprograms AKR1B1-mediated fructose metabolism to control leukemogenesis.
    Title: SMARCA5 reprograms AKR1B1-mediated fructose metabolism to control leukemogenesis.
  2. Aldose reductase is a potential therapeutic target for neurodegeneration.
    Title: Aldose reductase is a potential therapeutic target for neurodegeneration.
  3. Bioinformatics Analysis Reveals the Vital Role of AKR1B1 in Immune Infiltration and Clinical Outcomes of Gastric Cancer.
    Title: Bioinformatics Analysis Reveals the Vital Role of AKR1B1 in Immune Infiltration and Clinical Outcomes of Gastric Cancer.
  4. LINC00978 regulates metabolic rewiring to promote the malignancy of glioblastoma through AKR1B1.
    Title: LINC00978 regulates metabolic rewiring to promote the malignancy of glioblastoma through AKR1B1.
  5. Aldose reductase gene polymorphism rs752010122 and retinopathy in type 2 diabetics.
    Title: Aldose reductase gene polymorphism rs752010122 and retinopathy in type 2 diabetics.
  6. Aldose reductase and cancer metabolism: The master regulator in the limelight.
    Title: Aldose reductase and cancer metabolism: The master regulator in the limelight.
  7. Association of candidate genes (ALR2, RAGE, and VEGF) polymorphisms with diabetic retinopathy in type 2 diabetic patients of Khyber Pakhtunkhwa, Pakistan.
    Title: Association of candidate genes (ALR2, RAGE, and VEGF) polymorphisms with diabetic retinopathy in type 2 diabetic patients of Khyber Pakhtunkhwa, Pakistan.
  8. Identification of missense SNP-mediated mutations in the regulatory sites of aldose reductase (ALR2) responsible for treatment failure in diabetic complications.
    Title: Identification of missense SNP-mediated mutations in the regulatory sites of aldose reductase (ALR2) responsible for treatment failure in diabetic complications.
  9. The A allele of the rs759853 single nucleotide polymorphism in the AKR1B1 gene confers risk for diabetic kidney disease in patients with type 2 diabetes from a Brazilian population.
    Title: The A allele of the rs759853 single nucleotide polymorphism in the AKR1B1 gene confers risk for diabetic kidney disease in patients with type 2 diabetes from a Brazilian population.
  10. Homozygosity of the Z-2 polymorphic variant in the aldose reductase gene promoter confers increased risk for neuropathy in children and adolescents with Type 1 diabetes.
    Title: Homozygosity of the Z-2 polymorphic variant in the aldose reductase gene promoter confers increased risk for neuropathy in children and adolescents with Type 1 diabetes.
Submit: New GeneRIF Correction See all GeneRIFs (114)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC1804

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-glucuronate reductase activity IEA
Inferred from Electronic Annotation
more info
  
enables aldose reductase (NADPH) activity EXP
Inferred from Experiment
more info
 PubMed 
enables aldose reductase (NADPH) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aldose reductase (NADPH) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables all-trans-retinol dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
  
enables allyl-alcohol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables electron transfer activity TAS
Traceable Author Statement
more info
 PubMed 
enables glyceraldehyde oxidoreductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glycerol dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
  
enables prostaglandin H2 endoperoxidase reductase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables retinal dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in C21-steroid hormone biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in carbohydrate metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular hyperosmotic salinity response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in daunorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in doxorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in epithelial cell maturation IEA
Inferred from Electronic Annotation
more info
  
involved_in fructose biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in metanephric collecting duct development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in prostaglandin metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of urine volume IEA
Inferred from Electronic Annotation
more info
  
involved_in renal water homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in retinoid metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retinol metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular space TAS
Traceable Author Statement
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
aldo-keto reductase family 1 member B1
Names
Lii5-2 CTCL tumor antigen
aldehyde reductase 1
aldose reductase
low Km aldose reductase
NP_001333071.1
NP_001619.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001346142.1 → NP_001333071.1  aldo-keto reductase family 1 member B1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' most exon and lacks the start codon used in variant 1. These differences result in the use of a downstream AUG compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AA599612, AC078847
    Conserved Domains (1) summary
    cl00470
    Location:1 → 172
    AKR_SF; Aldo-keto reductase (AKR) superfamily

  2. NM_001628.4 → NP_001619.1  aldo-keto reductase family 1 member B1 isoform 1

    See identical proteins and their annotated locations for NP_001619.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    BC000260
    Consensus CDS
    CCDS5831.1
    UniProtKB/Swiss-Prot
    B2R8N3, P15121, Q5U031, Q6FGA4, Q6ICP2, Q9BS21, Q9UCI9
    Related
    ENSP00000285930.3, ENST00000285930.9
    Conserved Domains (1) summary
    cd19107
    Location:10 → 316
    AKR_AKR1B1-19; AKR1B family of aldo-keto reductase (AKR)

RNA

  1. NR_144376.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA599612, AB209796, DA495087
    Related
    ENST00000465351.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    134442350..134459239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    135750388..135767276 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P15121.3 GenPept UniProtKB/Swiss-Prot:P15121

Gene LinkOut

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