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 bee... See more...

Aliases for AKR1B1 Gene

Aliases for AKR1B1 Gene

  • Aldo-Keto Reductase Family 1 Member B 2 3 5
  • Aldose Reductase 2 3 4
  • Aldo-Keto Reductase Family 1 Member B1 3 4
  • EC 1.1.1.21 4 52
  • ALDR1 3 4
  • ALR2 3 4
  • AR 3 4
  • Aldo-Keto Reductase Family 1, Member B1 (Aldose Reductase) 2
  • Lii5-2 CTCL Tumor Antigen 3
  • Low Km Aldose Reductase 3
  • Aldehyde Reductase 1 3
  • Aldehyde Reductase 4
  • EC 1.1.1.300 4
  • EC 1.1.1.372 4
  • EC 1.1.1.54 4
  • EC 1.1.1 52
  • ADR 3

External Ids for AKR1B1 Gene

Previous HGNC Symbols for AKR1B1 Gene

  • ALDR1

Previous GeneCards Identifiers for AKR1B1 Gene

  • GC07M132469
  • GC07M133529
  • GC07M133543
  • GC07M133346
  • GC07M133584
  • GC07M133778
  • GC07M134127
  • GC07M128428

Summaries for AKR1B1 Gene

Entrez Gene Summary for AKR1B1 Gene

  • 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]

GeneCards Summary for AKR1B1 Gene

AKR1B1 (Aldo-Keto Reductase Family 1 Member B) is a Protein Coding gene. Diseases associated with AKR1B1 include Diabetic Cataract and Diabetic Autonomic Neuropathy. Among its related pathways are Naphthalene metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and aldo-keto reductase (NADP) activity. An important paralog of this gene is AKR1B10.

UniProtKB/Swiss-Prot Summary for AKR1B1 Gene

  • Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols. Displays enzymatic activity towards endogenous metabolites such as aromatic and aliphatic aldehydes, ketones, monosacharides, bile acids and xenobiotics substrates. Key enzyme in the polyol pathway, catalyzes reduction of glucose to sorbitol during hyperglycemia (PubMed:1936586). Reduces steroids and their derivatives and prostaglandins. Displays low enzymatic activity toward all-trans-retinal, 9-cis-retinal, and 13-cis-retinal (PubMed:12732097, PubMed:19010934, PubMed:8343525). Catalyzes the reduction of diverse phospholipid aldehydes such as 1-palmitoyl-2-(5-oxovaleroyl)-sn -glycero-3-phosphoethanolamin (POVPC) and related phospholipid aldehydes that are generated from the oxydation of phosphotidylcholine and phosphatdyleethanolamides (PubMed:17381426). Plays a role in detoxifying dietary and lipid-derived unsaturated carbonyls, such as crotonaldehyde, 4-hydroxynonenal, trans-2-hexenal, trans-2,4-hexadienal and their glutathione-conjugates carbonyls (GS-carbonyls) (PubMed:21329684).

Tocris Summary for AKR1B1 Gene

  • Aldose reductase (also known as aldehyde reductase) catalyzes the reduction of a wide variety of hydrophobic and hydrophilic carbonyl-containing compounds to their corresponding alcohols. This enzyme is cytosolic, exists as a monomer and requires NADPH as a co-factor.

Gene Wiki entry for AKR1B1 Gene

Additional gene information for AKR1B1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKR1B1 Gene

Genomics for AKR1B1 Gene

GeneHancer (GH) Regulatory Elements for AKR1B1 Gene

Promoters and enhancers for AKR1B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J134457 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 508.8 +0.4 435 2.9 ZBTB40 EP300 CTCF ZSCAN5C TCF12 POLR2G SP1 RBAK PHF8 TEAD4 AKR1B1 HSALNG0061509 AKR1B15 lnc-SLC35B4-4
GH07J134447 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 12.7 +8.1 8112 8.1 CTCF TCF12 FOS CTBP1 EP300 MYC HINFP NCOR1 NFRKB NEUROD1 AKR1B15 AKR1B1 lnc-SLC35B4-4 HSALNG0061509
GH07J134443 Enhancer 1 Ensembl ENCODE dbSUPER 12.4 +14.3 14265 3.6 NRF1 REST CTCF MYC ZNF263 USF1 ZNF395 MAZ CEBPG EGR1 AKR1B1 AKR1B15 lnc-SLC35B4-4 LOC105375519
GH07J134431 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.9 +26.8 26787 1.9 ZNF217 CTCF TCF12 NRF1 POLR2G PHF8 ZIC2 AFF1 ZBTB26 TRIM28 LOC105375519 SLC35B4 AKR1B1 piR-31926-033
GH07J134864 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.1 -407.2 -407204 3.9 ARNT NBN ZFHX2 IRF1 IKZF1 BMI1 NR2F1 NFATC3 TBX21 SPI1 CALD1 lnc-C7orf49-6 AGBL3 ENSG00000231794 WDR91 CYREN AKR1B1 piR-52780 ENSG00000286458
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKR1B1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKR1B1

Top Transcription factor binding sites by QIAGEN in the AKR1B1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • GR
  • GR-alpha
  • GR-beta
  • STAT5A

Genomic Locations for AKR1B1 Gene

Genomic Locations for AKR1B1 Gene
chr7:134,442,351-134,459,284
(GRCh38/hg38)
Size:
16,934 bases
Orientation:
Minus strand
chr7:134,127,102-134,144,036
(GRCh37/hg19)
Size:
16,935 bases
Orientation:
Minus strand

Genomic View for AKR1B1 Gene

Genes around AKR1B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKR1B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKR1B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKR1B1 Gene

Proteins for AKR1B1 Gene

  • Protein details for AKR1B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15121-ALDR_HUMAN
    Recommended name:
    Aldo-keto reductase family 1 member B1
    Protein Accession:
    P15121
    Secondary Accessions:
    • B2R8N3
    • Q5U031
    • Q6FGA4
    • Q6ICP2
    • Q9BS21
    • Q9UCI9

    Protein attributes for AKR1B1 Gene

    Size:
    316 amino acids
    Molecular mass:
    35853 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for AKR1B1 Gene

neXtProt entry for AKR1B1 Gene

Selected DME Specific Peptides for AKR1B1 Gene

P15121:
  • TLLSYNRNWRVCAL
  • LFIVSKLW
  • VTAYSPLGS
  • GYRHIDCA
  • AKPEDPSLLEDP
  • NQIECHPYL
  • EAVKVAID
  • GLGTWKS
  • HPYLTQEKLI
  • DLKLDYLD
  • IPKSVTP
  • LDYLDLYLIHWP
  • VTAYSPLGSPDRP

Post-translational modifications for AKR1B1 Gene

  • Ubiquitination at Lys12, Lys86, Lys222, Lys243, and Lys263
  • Modification sites at PhosphoSitePlus

Other Protein References for AKR1B1 Gene

Antibody Products

  • Boster Bio Antibodies for AKR1B1

Domains & Families for AKR1B1 Gene

Gene Families for AKR1B1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for AKR1B1 Gene

Suggested Antigen Peptide Sequences for AKR1B1 Gene

GenScript: Design optimal peptide antigens:
  • Aldo-keto reductase family 1 member B1 (ALDR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P15121

UniProtKB/Swiss-Prot:

ALDR_HUMAN :
  • Belongs to the aldo/keto reductase family.
Family:
  • Belongs to the aldo/keto reductase family.
genes like me logo Genes that share domains with AKR1B1: view

Function for AKR1B1 Gene

Molecular function for AKR1B1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols. Displays enzymatic activity towards endogenous metabolites such as aromatic and aliphatic aldehydes, ketones, monosacharides, bile acids and xenobiotics substrates. Key enzyme in the polyol pathway, catalyzes reduction of glucose to sorbitol during hyperglycemia (PubMed:1936586). Reduces steroids and their derivatives and prostaglandins. Displays low enzymatic activity toward all-trans-retinal, 9-cis-retinal, and 13-cis-retinal (PubMed:12732097, PubMed:19010934, PubMed:8343525). Catalyzes the reduction of diverse phospholipid aldehydes such as 1-palmitoyl-2-(5-oxovaleroyl)-sn -glycero-3-phosphoethanolamin (POVPC) and related phospholipid aldehydes that are generated from the oxydation of phosphotidylcholine and phosphatdyleethanolamides (PubMed:17381426). Plays a role in detoxifying dietary and lipid-derived unsaturated carbonyls, such as crotonaldehyde, 4-hydroxynonenal, trans-2-hexenal, trans-2,4-hexadienal and their glutathione-conjugates carbonyls (GS-carbonyls) (PubMed:21329684).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an alditol + NADP(+) = an aldose + H(+) + NADPH; Xref=Rhea:RHEA:12789, Rhea:RHEA-COMP:9554, Rhea:RHEA-COMP:9555, ChEBI:CHEBI:15378, ChEBI:CHEBI:15693, ChEBI:CHEBI:17522, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.21; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH; Xref=Rhea:RHEA:25033, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17898, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.300; Evidence={ECO:0000269 PubMed:12732097, ECO:0000269 PubMed:21329680};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=9-cis-retinol + NADP(+) = 9-cis-retinal + H(+) + NADPH; Xref=Rhea:RHEA:54916, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:78272, ChEBI:CHEBI:78273; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=13-cis-retinol + NADP(+) = 13-cis-retinal + H(+) + NADPH; Xref=Rhea:RHEA:54920, ChEBI:CHEBI:15378, ChEBI:CHEBI:45479, ChEBI:CHEBI:45487, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glycerol + NADP(+) = D-glyceraldehyde + H(+) + NADPH; Xref=Rhea:RHEA:23592, ChEBI:CHEBI:15378, ChEBI:CHEBI:17378, ChEBI:CHEBI:17754, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.372; Evidence={ECO:0000269 PubMed:10510318, ECO:0000269 PubMed:12732097, ECO:0000269 PubMed:1936586, ECO:0000269 PubMed:21329680, ECO:0000269 PubMed:8245005};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glycerol + NADP(+) = H(+) + L-glyceraldehyde + NADPH; Xref=Rhea:RHEA:38111, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:27975, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.372; Evidence={ECO:0000269 PubMed:10510318, ECO:0000269 PubMed:12732097, ECO:0000269 PubMed:1936586, ECO:0000269 PubMed:21329680, ECO:0000269 PubMed:8245005};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + prenol = 3-methyl-2-butenal + H(+) + NADPH; Xref=Rhea:RHEA:58420, ChEBI:CHEBI:15378, ChEBI:CHEBI:15825, ChEBI:CHEBI:16019, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(E)-hex-2-en-1-ol + NADP(+) = (E)-2-hexenal + H(+) + NADPH; Xref=Rhea:RHEA:58424, ChEBI:CHEBI:15378, ChEBI:CHEBI:28913, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:141205; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(E,E)-2,4-hexadien-1-ol + NADP(+) = (E,E)-2,4-hexadienal + H(+) + NADPH; Xref=Rhea:RHEA:58428, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:82334, ChEBI:CHEBI:142625; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 4-hydroxynonen-1-ol + NADP(+) = a 4-hydroxynonenal + H(+) + NADPH; Xref=Rhea:RHEA:58336, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:142593, ChEBI:CHEBI:142606; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + prostaglandin F2alpha = H(+) + NADPH + prostaglandin H2; Xref=Rhea:RHEA:45312, ChEBI:CHEBI:15378, ChEBI:CHEBI:57404, ChEBI:CHEBI:57405, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=allyl alcohol + NADP(+) = acrolein + H(+) + NADPH; Xref=Rhea:RHEA:12168, ChEBI:CHEBI:15368, ChEBI:CHEBI:15378, ChEBI:CHEBI:16605, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.54; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + pyridine 3-methanol = H(+) + NADPH + pyridine-3-carbaldehyde; Xref=Rhea:RHEA:58776, ChEBI:CHEBI:15378, ChEBI:CHEBI:28345, ChEBI:CHEBI:45213, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(5-oxopentanoyl)-sn-glycero-3-phosphocholine + H(+) + NADPH = 1-hexadecanoyl-2-(5-hydroxypentanoyl)-sn-glycero-3-phosphocholine + NADP(+); Xref=Rhea:RHEA:58512, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:77890, ChEBI:CHEBI:142747; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(7-oxoheptanoyl)-sn-glycero-3-phosphocholine + H(+) + NADPH = 1-hexadecanoyl-2-(7-hydroxyheptanoyl)-sn-glycero-3-phosphocholine + NADP(+); Xref=Rhea:RHEA:58752, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:134601, ChEBI:CHEBI:142748; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(9-oxononanoyl)-sn-glycero-3-phosphocholine + H(+) + NADPH = 1-hexadecanoyl-2-(9-hydroxynonanoyl)-sn-glycero-3-phosphocholine + NADP(+); Xref=Rhea:RHEA:58592, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:61042, ChEBI:CHEBI:142749; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(5-oxopentanoyl)-sn-glycero-3-phosphoethanolamine + H(+) + NADPH = 1-hexadecanoyl-2-(5-hydroxypentanoyl)-sn-glycero-3-phosphoethanolamine + NADP(+); Xref=Rhea:RHEA:58756, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:142750, ChEBI:CHEBI:142751; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Cys-299 may regulate the kinetic and inhibition properties of the enzyme, but does not participate in catalysis (PubMed:8343525). Tolrestat inhibits retinal reduction (PubMed:12732097).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=44 uM for D,L-glyceraldehyde {ECO:0000269 PubMed:12732097}; KM=76000 uM for glucose {ECO:0000269 PubMed:12732097}; KM=14 uM for pyridine-3-carbaldehyde {ECO:0000269 PubMed:12732097}; KM=10 uM for all-trans-retinal {ECO:0000269 PubMed:12732097}; KM=12 uM for 9-cis-retinal {ECO:0000269 PubMed:12732097}; KM=14 uM for 13-cis-retinal {ECO:0000269 PubMed:12732097}; KM=8.8 uM for 1-O-palmitoyl-2-O-(5-oxovaleryl)-sn-glycero-3- phosphocholine (POVPC) {ECO:0000269 PubMed:17381426}; KM=16 uM for 1-hexadecanoyl-2-(7-oxoheptanoyl)-sn-glycero-3- phosphocholine {ECO:0000269 PubMed:17381426}; KM=13 uM for 1-hexadecanoyl-2-(9-oxononanoyl)-sn-glycero-3- phosphocholine {ECO:0000269 PubMed:17381426}; KM=11 uM for 1-hexadecanoyl-2-(5-oxopentanoyl)-sn-glycero-3- phosphoethanolamine {ECO:0000269 PubMed:17381426}; KM=884 uM for acrolein {ECO:0000269 PubMed:21329684}; KM=9643 uM for 3-methyl-2-butenal {ECO:0000269 PubMed:21329684}; KM=878 uM for (E)-2-hexenal {ECO:0000269 PubMed:21329684}; KM=905 uM for (E,E)-2,4-hexadienal {ECO:0000269 PubMed:21329684}; KM=716 uM for 4-hydroxynonenal {ECO:0000269 PubMed:21329684}; KM=122 uM for GS-(E)-4-hexenal {ECO:0000269 PubMed:21329684}; KM=7 uM for GS-hexenal {ECO:0000269 PubMed:21329684}; KM=5 uM for GS-4-hydroxynonenal {ECO:0000269 PubMed:21329684}; KM=1.9 uM for prostaglandin H2 {ECO:0000269 PubMed:19010934}; Vmax=26 nmol/min/mg enzyme for prostaglandin H2 {ECO:0000269 PubMed:19010934}; Note=kcat is 15 min(-1) for all-trans-retinal as substrate. kcat is 30 min(-1) for 9-cis-retinal as substrate. kcat is 94 min(-1) for 13-cis-retinal as substrate (PubMed:12732097). kcat is 11 min(-1) for acrolein as substrate. kcat is 31 min(-1) for 3- methyl-2-butenal as substrate. kcat is 41 min(-1) for (E)-2- hexenal as substrate. kcat is 43 min(-1) for (E,E)-2,4- hexadienal as substrate. kcat is 50 min(-1) for 4-hydroxynonenal as substrate. kcat is 16 min(-1) for GS-(E)-4-hexenal as substrate. kcat is 16 min(-1) for GS-hexenal as substrate. kcat is 13 min(-1) for GS-4-hydroxynonenal as substrate (PubMed:21329684). kcat is 31 min(-1) for D,L-glyceraldehyde (PubMed:21329680). {ECO:0000269 PubMed:12732097, ECO:0000269 PubMed:21329680, ECO:0000269 PubMed:21329684};
GENATLAS Biochemistry:
aldo-keto reductase family 1 member B1,monomeric NADPH dependent,widely expressed,at low levels in liver,cytosolic reducing aromatic and aliphatic aldehydes,with less activity than AKR1A1

Enzyme Numbers (IUBMB) for AKR1B1 Gene

Phenotypes From GWAS Catalog for AKR1B1 Gene

Gene Ontology (GO) - Molecular Function for AKR1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001758 retinal dehydrogenase activity IDA 12732097
GO:0004032 alditol:NADP+ 1-oxidoreductase activity EXP,IDA 8435445
GO:0008106 alcohol dehydrogenase (NADP+) activity IBA 21873635
GO:0009055 electron transfer activity TAS 2112546
GO:0016491 oxidoreductase activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with AKR1B1: view
genes like me logo Genes that share phenotypes with AKR1B1: view

Animal Models for AKR1B1 Gene

MGI Knock Outs for AKR1B1:

Animal Model Products

CRISPR Products

miRNA for AKR1B1 Gene

miRTarBase miRNAs that target AKR1B1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR1B1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKR1B1 Gene

Localization for AKR1B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKR1B1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AKR1B1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
mitochondrion 3
lysosome 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AKR1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space TAS 2112546
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0032838 plasma membrane bounded cell projection cytoplasm IEA --
genes like me logo Genes that share ontologies with AKR1B1: view

Pathways & Interactions for AKR1B1 Gene

genes like me logo Genes that share pathways with AKR1B1: view

Gene Ontology (GO) - Biological Process for AKR1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process IMP 12732097
GO:0001894 tissue homeostasis IEA --
GO:0003091 renal water homeostasis IEA --
GO:0005975 carbohydrate metabolic process TAS 2112546
GO:0005996 monosaccharide metabolic process IEA --
genes like me logo Genes that share ontologies with AKR1B1: view

No data available for SIGNOR curated interactions for AKR1B1 Gene

Drugs & Compounds for AKR1B1 Gene

(112) Drugs for AKR1B1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Sulindac Approved, Investigational Pharma Target, inhibitor Anti-inflammatory agent;COX inhibitor 37
Citric acid Approved, Vet_approved Nutra Agonist, Activator, Target 1480
Galactose Approved, Investigational Pharma 0
Glycerol Approved, Investigational Pharma 208

(56) Additional Compounds for AKR1B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glyceraldehyde
  • (+-)-Glyceraldehyde
  • 2,3-Dihydroxypropanal
  • 2,3-Dihydroxypropionaldehyde
  • Aldotriose
  • alpha,beta-Dihydroxypropionaldehyde
56-82-6
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Alpha-D-Glucose
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • α-D-GLC
  • a-D-Glucose
492-62-6
Beta-D-Galactose
  • beta-D-Gal
  • Gal-beta
  • b-D-Gal
  • β-D-gal
  • b-D-Galactose
7296-64-2
D-Lactaldehyde
  • D-2-Hydroxypropionaldehyde
  • (2R)-2-Hydroxypropanal
  • (R)-Lactaldehyde
3946-09-6

(2) Tocris Compounds for AKR1B1 Gene

Compound Action Cas Number
Alrestatin Aldose reductase inhibitor 51411-04-2
EBPC Aldose reductase inhibitor 4450-98-0

(5) ApexBio Compounds for AKR1B1 Gene

Compound Action Cas Number
Alrestatin 51411-04-2
EBPC 4450-98-0
Epalrestat 82159-09-9
N6022 GSNOR inhibitor 1208315-24-5
Tolrestat 82964-04-3
genes like me logo Genes that share compounds with AKR1B1: view

Drug Products

Transcripts for AKR1B1 Gene

mRNA/cDNA for AKR1B1 Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKR1B1

Alternative Splicing Database (ASD) splice patterns (SP) for AKR1B1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a ·
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - -
SP7: - - -
SP8: - - - - - - -
SP9: - - - -
SP10: - - - - - -
SP11: - - -
SP12: - - - -
SP13: - -
SP14: -

ExUns: 10b · 10c ^ 11 ^ 12a · 12b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for AKR1B1 Gene

GeneLoc Exon Structure for
AKR1B1

Expression for AKR1B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AKR1B1 Gene

mRNA differential expression in normal tissues according to GTEx for AKR1B1 Gene

This gene is overexpressed in Adrenal Gland (x23.9).

Protein differential expression in normal tissues from HIPED for AKR1B1 Gene

This gene is overexpressed in Adrenal (16.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKR1B1 Gene



Protein tissue co-expression partners for AKR1B1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKR1B1

SOURCE GeneReport for Unigene cluster for AKR1B1 Gene:

Hs.521212

mRNA Expression by UniProt/SwissProt for AKR1B1 Gene:

P15121-ALDR_HUMAN
Tissue specificity: Highly expressed in embryonic epithelial cells (EUE) in response to osmotic stress.

Evidence on tissue expression from TISSUES for AKR1B1 Gene

  • Nervous system(4.9)
  • Eye(4.8)
  • Kidney(4.7)
  • Muscle(4.7)
  • Lung(4.1)
  • Adrenal gland(3.4)
  • Blood(3.1)
  • Heart(3.1)
  • Pancreas(3.1)
  • Liver(2.8)
  • Intestine(2.6)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with AKR1B1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKR1B1 Gene

Orthologs for AKR1B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AKR1B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKR1B1 31 30
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AKR1B1 31 31 30
  • 88.5 (n)
OneToMany
-- 31
  • 72 (a)
OneToMany
cow
(Bos Taurus)
Mammalia AKR1B1 31 30
  • 87.34 (n)
OneToMany
-- 31
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Akr1b1 30
  • 86.35 (n)
mouse
(Mus musculus)
Mammalia Akr1b3 17 31 30
  • 85.93 (n)
oppossum
(Monodelphis domestica)
Mammalia AKR1B1 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akr1b1 30
  • 71.02 (n)
Str.8655 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68609 30
zebrafish
(Danio rerio)
Actinopterygii si:dkey-180p18.9 31 30
  • 69.83 (n)
ManyToMany
Dr.6142 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9690 30
fruit fly
(Drosophila melanogaster)
Insecta CG6084 31 32
  • 52 (a)
OneToMany
CG6083 32
  • 50 (a)
CG12766 32
  • 48 (a)
BcDNA:GH10614 32
  • 46 (a)
CG10638 32
  • 45 (a)
CG9436 32
  • 44 (a)
CG2767 32
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea Y39G8B.1b 32
  • 47 (a)
Y39G8B.1a 32
  • 47 (a)
T08H10.1 32
  • 42 (a)
C07D8.6 32
  • 39 (a)
Y39G8B.2 32
  • 36 (a)
ZC443.1 32
  • 36 (a)
F53F1.3 32
  • 34 (a)
C01G5.5 32
  • 33 (a)
F53F1.2 32
  • 32 (a)
C35D10.6 32
  • 32 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.10389 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToMany
Species where no ortholog for AKR1B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AKR1B1 Gene

ENSEMBL:
Gene Tree for AKR1B1 (if available)
TreeFam:
Gene Tree for AKR1B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKR1B1: view image

Paralogs for AKR1B1 Gene

(11) SIMAP similar genes for AKR1B1 Gene using alignment to 3 proteins:

  • ALDR_HUMAN
  • E9PCX2_HUMAN
  • E9PEF9_HUMAN
genes like me logo Genes that share paralogs with AKR1B1: view

Variants for AKR1B1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKR1B1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs2229542 - p.Lys90Glu
rs5054 - p.Ile15Phe
rs5056 - p.His42Leu
rs5057 - p.Leu73Val
rs5061 - p.Gly204Ser

Additional dbSNP identifiers (rs#s) for AKR1B1 Gene

Structural Variations from Database of Genomic Variants (DGV) for AKR1B1 Gene

Variant ID Type Subtype PubMed ID
esv3615084 CNV gain 21293372
esv3615093 CNV gain 21293372
nsv1020759 CNV gain 25217958
nsv1023263 CNV loss 25217958
nsv608456 CNV loss 21841781
nsv970943 CNV duplication 23825009

Variation tolerance for AKR1B1 Gene

Residual Variation Intolerance Score: 25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKR1B1 Gene

Human Gene Mutation Database (HGMD)
AKR1B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKR1B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKR1B1 Gene

Disorders for AKR1B1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for AKR1B1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetic cataract
  • cataract - diabetic
diabetic autonomic neuropathy
  • diabetic neuropathies
diabetic polyneuropathy
  • diabetes mellitus with polyneuropathy
hyperglycemia
microvascular complications of diabetes 1
  • pdr
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AKR1B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AKR1B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AKR1B1 Gene

Publications for AKR1B1 Gene

  1. Variants in the gene encoding aldose reductase (AKR1B1) and diabetic nephropathy in American Indians. (PMID: 16620264) Wolford JK … Hanson RL (Diabetic medicine : a journal of the British Diabetic Association 2006) 3 23 41 54
  2. Aldose reductase gene is associated with diabetic macroangiopathy in Japanese Type 2 diabetic patients. (PMID: 16911628) Watarai A … Nakamura J (Diabetic medicine : a journal of the British Diabetic Association 2006) 3 23 41 54
  3. Aldose reductase gene polymorphisms and susceptibility to microvascular complications in Type 2 diabetes. (PMID: 15569136) Sivenius K … Uusitupa M (Diabetic medicine : a journal of the British Diabetic Association 2004) 3 23 41 54
  4. Human aldose reductase and human small intestine aldose reductase are efficient retinal reductases: consequences for retinoid metabolism. (PMID: 12732097) Crosas B … Farrés J (The Biochemical journal 2003) 3 4 23 54
  5. (AC)(n) polymorphism of aldose reductase gene and diabetic microvascular complications in type 2 diabetes mellitus. (PMID: 11796181) Park HK … Lee HC (Diabetes research and clinical practice 2002) 3 23 41 54

Products for AKR1B1 Gene

Sources for AKR1B1 Gene