AKR1B1 Gene - Aldo-Keto Reductase Family 1 Member B

Protein Coding (Updated: Aug 30, 2022)
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

  • GeneCards Symbol: AKR1B1 2
  • Aldo-Keto Reductase Family 1 Member B 2 3 5
  • AR 2 3 4 5
  • Aldose Reductase 2 3 4
  • ALDR1 3 4 5
  • Aldo-Keto Reductase Family 1 Member B1 3 4
  • EC 1.1.1.21 4 48
  • ALR2 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 48
  • 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 Hyperglycemia. Among its related pathways are Metabolism of steroids and Disorders of galactose 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, 19010934, 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). ( ALDR_HUMAN,P15121 )

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 Summary , Rfam classification and piRNA Summary for AKR1B1 Gene

Genomics for AKR1B1 Gene

GeneHancer (GH) Regulatory Elements (see citations)

Download GeneHancer 2017 data
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 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 258.80 534.47 +0.4 0 2.9 SP1 ZNF580 CTCF POLR2A ZNF600 ZIC2 HIC1 ZBTB10 DEK CEBPB AKR1B1 HSALNG0061509 AKR1B15 WDR91 lnc-SLC35B4-4 SLC35B4
GH07J134447 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 12.70 15.29 +8.1 0 8.1 DPF2 NCOR1 NFIC CTCF ZNF592 EP300 ZNF316 TAL1 MYNN NFE2 AKR1B15 AKR1B1 lnc-SLC35B4-4 HSALNG0061509 SLC35B4
GH07J134431 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.90 10.2 +26.8 2 1.9 KLF6 DPF2 KLF17 NCOR1 CTCF ZNF600 ZIC2 DNMT3B YY1 REST LOC105375519 SLC35B4 AKR1B1 piR-31926-036
GH07J134443 Enhancer 0.8 Ensembl ENCODE dbSUPER 12.40 10.11 +14.3 1 3.6 REST CTCF PRDM10 MAZ NRF1 EGR1 ZNF687 HLF ARID2 RAD21 AKR1B1 AKR1B15 lnc-SLC35B4-4 LOC105375519 SLC35B4
GH07J134864 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.10 6.77 -407.2 38 3.9 BHLHE40 IKZF1 BMI1 NR2F1 BACH1 TCF12 TARDBP SPI1 MTA2 IKZF2 CALD1 lnc-C7orf49-6 AGBL3 ENSG00000231794 WDR91 CYREN AKR1B1 HSALNG0061523 ENSG00000286458

GeneHancers around AKR1B1 on the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr7:134,442,350-134,459,284
(GRCh38/hg38)
Size:
16,935 bases
Orientation:
Minus strand

Previous Assembly
chr7:134,127,102-134,143,991
(GRCh37/hg19 by Entrez Gene)
Size:
16,890 bases
Orientation:
Minus strand

chr7:134,127,102-134,144,036
(GRCh37/hg19 by Ensembl)
Size:
16,935 bases
Orientation:
Minus strand

Genomic View for AKR1B1 Gene

Genes around AKR1B1 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19)

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
Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AKR1B1 Gene

Proteins for AKR1B1 Gene

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  • 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 PDB for AKR1B1 Gene

    P15121
    PDB ID PDBe RCSB-PDB OCA Proteopedia
    1ABN (3D) (3D) (3D)
    1ADS (3D) (3D) (3D)
    1AZ1 (3D) (3D) (3D)
    1AZ2 (3D) (3D) (3D)
    1EF3 (3D) (3D) (3D)

    Predicted three dimensional structure from AlphaFold

    P15121

neXtProt entry for AKR1B1 Gene

Protein Expression for AKR1B1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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
    NX_P15121 (NX_P15121-1)
  • Modification sites at PhosphoSitePlus
    P15121
  • Glycosylation from GlyGen (P15121) 1 site, 1 O-linked glycan (1 site)

Other Protein References for AKR1B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

Protein products for research

  • Abcam proteins for AKR1B1

Domains & Families for AKR1B1 Gene

Gene Families for AKR1B1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • FDA approved drug targets
  • Metabolic proteins
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for AKR1B1 Gene

InterPro:
Blocks:
  • Aldo/keto reductase

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 that share domains with AKR1B1: view

Function for AKR1B1 Gene

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  6. Cell Lines for research

Molecular function for AKR1B1 Gene according to 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, 19010934, 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). ALDR_HUMAN,P15121
CatalyticActivity:
BiophysicochemicalProperties:
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). ALDR_HUMAN,P15121

Molecular function for AKR1B1 Gene according to 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 AKR1B1

Enzyme Numbers (IUBMB) for AKR1B1 Gene

Phenotypes From GWAS Catalog for AKR1B1 Gene

Phenotype Gene Relation Best Score Mean Score # of Snps # of Studies SNP IDs
blood protein measurement 71.3 37.8433 2 3
mathematical ability 19.5 19.52288 1 1
age at first sexual intercourse measurement 13.7 13.69897 1 1
diastolic blood pressure 13.7 13.23299 2 2
systolic blood pressure 12.2 12.22185 1 1

Gene Ontology (GO) - Molecular Function for AKR1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001758 3 5 enables retinal dehydrogenase activity IDA 12732097
GO:0004032 3 5 enables alditol:NADP+ 1-oxidoreductase activity EXP, IDA, IBA, EXP 8435445
GO:0005515 3 5 enables protein binding IPI 32296183
GO:0009055 3 5 enables electron transfer activity TAS 2112546
GO:0016491 5 oxidoreductase activity IEA
Genes that share ontologies with AKR1B1: view
Genes that share phenotypes with AKR1B1: view

Animal Models for AKR1B1 Gene

MGI Knock Outs for AKR1B1:

miRNA for AKR1B1 Gene

miRTarBase miRNAs that target AKR1B1

miRNA products for research

No data available for Human Phenotype Ontology , NCBI Functional elements , Transcription Factor Targeted Genes 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
cytosol 5
nucleus 5
extracellular 4
mitochondrion 3
lysosome 2
endoplasmic reticulum 2
peroxisome 2
cytoskeleton 2
plasma membrane 2
golgi apparatus 1
endosome 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 3 5 located_in extracellular space TAS 2112546
GO:0005654 3 5 located_in nucleoplasm IDA
GO:0005737 5 cytoplasm IEA
GO:0005829 3 5 located_in cytosol IDA, IBA, TAS, TAS
GO:0070062 3 5 located_in extracellular exosome HDA 19056867
Genes that share ontologies with AKR1B1: view

Pathways & Interactions for AKR1B1 Gene

Genes that share pathways with AKR1B1: view

Pathways by source for AKR1B1 Gene

1 GeneGo (Thomson Reuters) pathway for AKR1B1 Gene
  • Naphthalene metabolism

Additional Pathway Information for AKR1B1 Gene

Interacting Proteins for AKR1B1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network for AKR1B1
Selected Interacting proteins: P15121-ALDR_HUMAN ENSP00000285930 for AKR1B1 Gene via UniProtKB MINT STRING IID

Symbol External ID(s) Details
PRMT2
ABAT
AKR1B10
AKR1B15
AKR1C3
ALDH1A3
ASB18
ASB5
ASB9
CFL2
CSMD1
DECR1
EFCAB11
ENO1
ENO2
ENO3
EZR
FABP5
FABP7
FBXO32
GLO1
GOT1
GPX4
GRHPR
HINT1
GPS-Prot Interaction Network for AKR1B1

Gene Ontology (GO) - Biological Process for AKR1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 3 5 involved_in retinoid metabolic process IMP 12732097
GO:0002070 3 5 involved_in epithelial cell maturation IEA
GO:0003091 3 5 involved_in renal water homeostasis IEA
GO:0005975 3 5 involved_in carbohydrate metabolic process TAS 2112546
GO:0006629 5 lipid metabolic process IEA
Genes that share ontologies with AKR1B1: view

No data available for SIGNOR curated interactions for AKR1B1 Gene

Drugs & Compounds for AKR1B1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sulindac 23 24 93 Approved, Investigational 23 Pharma Inhibitor, Target Anti-inflammatory agent;COX inhibitor, Small Molecule, Anti-Inflammatory Agents, Non-Steroidal
NADH 21 23 24 Approved Nutra Target
Daunorubicin 21 23 Approved 23 Pharma substrate, Enzyme DNA topoisomerase II inhibitor, Small Molecule
Citric acid 23 24 Approved, Vet_approved Nutra inhibitor, Target
Glycerin 21 24 Approved, Investigational 23 Pharma

(62) Inferred Drugs for AKR1B1 Gene

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetylsalicylic acid 21 Approved, Vet_approved 23 Pharma Cyclooxygenase (COX) inhibitor, Anticoagulants, Anti-Inflammatory Agents, Non-Steroidal
Benzoic acid 21 Approved, Investigational 23 Pharma
Benzyl alcohol 21 Approved 23 Pharma
Beta-D-Glucose 21 Approved, Experimental, Investigational, Vet_approved 23 23 23 Pharma
Capsaicin 21 Approved 23 Pharma TRPV1 receptor agonist, Small Molecule, Prototypic vanilloid receptor agonist

(9) Additional Compounds for AKR1B1 Gene - From: Novoseek, HMDB, and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glyceraldehyde
  • (+-)-Glyceraldehyde
  • (+/-)-2,3-dihydroxy-propanal
  • (+/-)-glyceraldehyde
  • 2,3-Dihydroxypropanal
  • 2,3-Dihydroxypropionaldehyde
 56-82-6
AK198
alpha-D-Glucose
  • 1,3-alpha-D-Glucan
  • a-Dextrose
  • a-D-GLC
  • a-D-Glucopyranose
  • a-D-Glucose
 492-62-6
beta-D-Galactose
  • b-D-Gal
  • b-D-Galactose
  • beta D-Galactose
  • beta-D-Gal
  • beta-D-Galactopyranose
 7296-64-2
D-Lactaldehyde
  • (2R)-2-Hydroxypropanal
  • (R)-Lactaldehyde
  • D-2-Hydroxypropionaldehyde
 3946-09-6

(42) Additional Inferred Compounds for AKR1B1 Gene

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Oxoaldehyde
3,3'-Tetramethylene glutaric acid
3alpha-Hydroxysteroid
3-Deoxyglucosone
5-(3-Thienyl)tetrazol-1-ylacetic acid

(2) Tocris Compounds for AKR1B1 Gene

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

(4) 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
Genes that share compounds with AKR1B1: view

Drug products for research

Transcripts for AKR1B1 Gene

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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 :

miRNA products for research

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

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

mRNA expression in normal human tissues for AKR1B1 Gene
mRNA expression by GTEx for AKR1B1 GenemRNA expression by BioGPS 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(5)
  • Eye(4.8)
  • Muscle(4.8)
  • Kidney(4.7)
  • Lung(4.3)
  • Adrenal gland(3.8)
  • Heart(3.8)
  • Pancreas(3.8)
  • Blood(3.4)
  • Liver(3.1)
  • Intestine(3)
  • Skin(2.9)
  • Lymph node(2.7)
  • Spleen(2.6)
  • Stomach(2.6)
  • Thyroid gland(2.4)
  • Bone marrow(2.3)
  • Urine(2.2)
  • Gall bladder(2)

Bgee gene expression patterns for AKR1B1 gene:

  • Expressed in right adrenal gland cortex, left adrenal gland, left adrenal gland cortex and 207 other tissues.
Genes that share expression patterns with AKR1B1: view

Primer products for research

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 28 29
  • 99.58 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AKR1B1 28 29 29
  • 88.5 (n)
 OneToMany
-- 29
  • 72 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia AKR1B1 28 29
  • 87.34 (n)
 OneToMany
-- 29
  • 71 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Akr1b1 28
  • 86.35 (n)
Mouse
(Mus musculus)
 Mammalia Akr1b3 28 16 29
  • 85.93 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia AKR1B1 29
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia akr1b1 28
  • 71.02 (n)
Str.8655 28
African clawed frog
(Xenopus laevis)
 Amphibia MGC68609 28
Zebrafish
(Danio rerio)
 Actinopterygii si:dkey-180p18.9 28 29
  • 69.83 (n)
 ManyToMany
Dr.6142 28
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9690 28
Fruit Fly
(Drosophila melanogaster)
 Insecta CG6084 29 30
  • 52 (a)
 OneToMany
CG6083 30
  • 50 (a)
CG12766 30
  • 48 (a)
BcDNA:GH10614 30
  • 46 (a)
CG10638 30
  • 45 (a)
CG9436 30
  • 44 (a)
CG2767 30
  • 41 (a)
Worm
(Caenorhabditis elegans)
 Secernentea Y39G8B.1a 30
  • 47 (a)
Y39G8B.1b 30
  • 47 (a)
T08H10.1 30
  • 42 (a)
C07D8.6 30
  • 39 (a)
Y39G8B.2 30
  • 36 (a)
ZC443.1 30
  • 36 (a)
F53F1.3 30
  • 34 (a)
C01G5.5 30
  • 33 (a)
C35D10.6 30
  • 32 (a)
F53F1.2 30
  • 32 (a)
Wheat
(Triticum aestivum)
 Liliopsida Ta.10389 28
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 29
  • 51 (a)
 OneToMany
Species where no ortholog for AKR1B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for AKR1B1

Paralogs for AKR1B1 Gene

Paralogs for AKR1B1 Gene

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

  • ALDR_HUMAN
  • E9PCX2_HUMAN
  • E9PEF9_HUMAN

Pseudogenes.org Pseudogenes for AKR1B1 Gene

Genes that share paralogs with AKR1B1: view

Variants for AKR1B1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

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
rs116049631 5 109

Likely Benign: not provided

134,442,743(-) G/ANM_001628.4(AKR1B1):c.936C>T (p.Phe312=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs140139985 5 109

Likely Benign: not provided

134,448,407(-) G/ANM_001628.4(AKR1B1):c.639C>T (p.Leu213=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs141337439 5 109

Likely Benign: not provided

134,449,765(-) C/TNM_001628.4(AKR1B1):c.384G>A (p.Ser128=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs1803093 5 109

Likely Benign: not provided

134,445,282(-) G/ANM_001628.4(AKR1B1):c.864C>T (p.Thr288=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs114023160 5 109

Benign: not provided

134,448,001(-) C/TNM_001628.4(AKR1B1):c.720G>A (p.Lys240=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AKR1B1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv4163923 CNV duplication 32461652
nsv1020759 CNV gain 25217958
esv3615084 CNV gain 21293372
nsv4339797 OTHER sequence alteration 32461652
esv3615093 CNV gain 21293372
nsv970943 CNV duplication 23825009
nsv4165898 CNV deletion 32461652
nsv608456 CNV loss 21841781
nsv1023263 CNV loss 25217958
nsv4166131 CNV deletion 32461652
SVs/CNVs around AKR1B1 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19)

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
Leiden Open Variation Database (LOVD)
AKR1B1

SNP Genotyping and Copy Number Assays for research

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

Disorders for AKR1B1 Gene

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

Disorder Aliases PubMed IDs
Diabetic Cataract 21 64
  • Cataract - Diabetic
 12871135 16639016 1907924 14751239 18692043 1908617 8256667 12630936 15604620 1344191
Hyperglycemia 1 21 64
15539002 7838591 19383984 1314495 7839671 18451330 12490536 12604244 7557046 17003340 1611134 2114249 17720893 16625819 11422753 17720889 14751239 11353731 9709964 7497871 10421234 1908433 16297625 14610924 11460589 8681485 8457142 1748066 8877273 11336594 12682618 1828737 7963139 9676990
Diabetic Autonomic Neuropathy 21 64
  • Diabetic Neuropathies
 8482988 2123430 9647338 18370475
Diabetic Polyneuropathy 21 64
  • Diabetes Mellitus With Polyneuropathy
  • Polyneuropathy In Diabetes
  • Diabetic Polyneuropathies
  • Diabetic Neuropathy Nos
 17943821 9789304
Galactosemia I 21 64
  • Galactosemia
  • Galt Deficiency
  • Classic Galactosemia
  • Galactose-1-Phosphate Uridylyltransferase Deficiency
  • Galactose-1-Phosphate Uridyltransferase Deficiency
  • GALAC1
  • Galactosemia, Classic
  • Galactosemia Type 1
  • Galactosemias
  • Classical Galactosemia
  • Galactosaemia
  • Galactose Intolerance
  • Epimerase Deficiency Galactosemia
  • Galactokinase Deficiency Disease
  • Galactose Epimerase Deficiency
  • Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
  • Gale Deficiency
  • Galk Deficiency
  • Udp-Galactose-4-Epimerase Deficiency Disease
  • Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
  • Galactosemia 1
  • Galactosemia, Duarte Variant
  • Deficiency Of Galactokinase
  • Udpglucose 4-Epimerase Deficiency Disease
  • Classical Galactosaemia
  • Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency
  • Classic Galactosaemia
  • Deficiency Of Hexose-1-Phosphate Uridylyltransferase
  • Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase
  • Deficiency Of Galactose-1-Phosphate Uridylyltransferase
  • Galactose-1-Phosphate Uridyl Transferase Deficiency
  • Transferase Deficiency Galactosemia
  • Deficiency Of Uridyl Transferase
  • Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase
  • Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
 2122961 8138064 17202592
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AKR1B1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
Cancer Target Discovery and Development
(CTD² Dashboard)
The FABRIC Cancer Portal
(FABRIC)
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 21 39
  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 21 39
  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 21 39
  4. Aldose reductase gene polymorphisms and peripheral nerve function in patients with type 2 diabetes. (PMID: 15277434) Sivenius K … Uusitupa M (Diabetes care 2004) 3 21 39
  5. 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 21

Products for AKR1B1 Gene

Sources for AKR1B1 Gene