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Aliases for AKR1B1 Gene

Aliases for AKR1B1 Gene

  • Aldo-Keto Reductase Family 1, Member B1 (Aldose Reductase) 2 3 5
  • Aldo-Keto Reductase Family 1 Member B1 3 4
  • EC 1.1.1.21 4 63
  • ALDR1 3 4
  • AR 3 4
  • Lii5-2 CTCL Tumor Antigen 3
  • Low Km Aldose Reductase 3
  • Aldehyde Reductase 1 3
  • Aldehyde Reductase 4
  • EC 1.1.1 63
  • ALR2 3
  • 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 B1 (Aldose Reductase)) is a Protein Coding gene. Diseases associated with AKR1B1 include Diabetic Neuropathy and Diabetic Cataract. Among its related pathways are Glycosaminoglycan metabolism and Fructose metabolism. GO annotations related to this gene include oxidoreductase activity and aldo-keto reductase (NADP) activity. An important paralog of this gene is AKR1C2.

UniProtKB/Swiss-Prot for AKR1B1 Gene

  • Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols with a broad range of catalytic efficiencies.

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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AKR1B1 Gene

Genomics for AKR1B1 Gene

Regulatory Elements for AKR1B1 Gene

Enhancers for AKR1B1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AKR1B1 on UCSC Golden Path with GeneCards custom track

Promoters for AKR1B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AKR1B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AKR1B1 Gene

Chromosome:
7
Start:
134,442,350 bp from pter
End:
134,459,284 bp from pter
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:
    Aldose reductase
    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

Proteomics data for AKR1B1 Gene at MOPED

Post-translational modifications for AKR1B1 Gene

  • Ubiquitination at Lys 12, Lys 86, Lys 222, Lys 243, and Lys 263
  • Modification sites at PhosphoSitePlus

Other Protein References for AKR1B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AKR1B1 Gene

Gene Families for AKR1B1 Gene

Protein Domains for AKR1B1 Gene

Suggested Antigen Peptide Sequences for AKR1B1 Gene

GenScript: Design optimal peptide antigens:

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

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
UniProtKB/Swiss-Prot CatalyticActivity:
Alditol + NAD(P)(+) = aldose + NAD(P)H.
UniProtKB/Swiss-Prot EnzymeRegulation:
Cys-299 may regulate the kinetic and inhibition properties of the enzyme, but does not participate in catalysis.
UniProtKB/Swiss-Prot Function:
Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols with a broad range of catalytic efficiencies.

Enzyme Numbers (IUBMB) for AKR1B1 Gene

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

Animal Models for AKR1B1 Gene

MGI Knock Outs for AKR1B1:

Animal Model Products

miRNA for AKR1B1 Gene

miRTarBase miRNAs that target AKR1B1

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for AKR1B1 Gene COMPARTMENTS Subcellular localization image for AKR1B1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
vacuole 3
cytoskeleton 2
lysosome 2
mitochondrion 2
plasma membrane 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for AKR1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IEA,TAS --
GO:0042629 mast cell granule IEA --
GO:0043220 Schmidt-Lanterman incisure IEA --
GO:0097454 Schwann cell microvillus 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:0001894 tissue homeostasis IEA --
GO:0005996 monosaccharide metabolic process IEA --
GO:0006000 fructose metabolic process TAS --
GO:0006061 sorbitol biosynthetic process IEA --
GO:0006700 C21-steroid hormone biosynthetic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sulindac Approved Pharma Target, inhibitor Anti-inflammatory agent;COX inhibitor 37
Sorbinil Experimental Pharma inhibitor, Target 0
Zenarestat Experimental Pharma inhibitor, Target 0
Alrestatin Experimental Pharma Target Aldose reductase inhibitor 0
Fidarestat Experimental Pharma Target, inhibitor 0

(74) Additional Compounds for AKR1B1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glyceraldehyde
  • (+/-)-2,3-dihydroxy-Propanal
  • (+/-)-Glyceraldehyde
  • 2,3-Dihydroxypropanal
  • 2,3-Dihydroxypropionaldehyde
  • 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
(S)-Propane-1,2-diol
  • (2S)-propane-1,2-diol
  • (S)-1,2-propanediol
  • (S)-propylene glycol
4254-15-3
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
Beta-D-Galactose
  • b-D-Galactose
  • b-Galactose
  • beta D-Galactose
  • beta-D-Galactopyranose
  • beta-D-Galactose
7296-64-2

(2) Tocris Compounds for AKR1B1 Gene

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

(2) ApexBio Compounds for AKR1B1 Gene

Compound Action Cas Number
Epalrestat 82159-09-9
N6022 GSNOR inhibitor 1208315-24-5
genes like me logo Genes that share compounds with AKR1B1: view

Transcripts for AKR1B1 Gene

Unigene Clusters for AKR1B1 Gene

Aldo-keto reductase family 1, member B1 (aldose reductase):
Representative Sequences:

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
ECgene alternative splicing isoforms for
AKR1B1

Expression for AKR1B1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for AKR1B1 Gene



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.
genes like me logo Genes that share expression patterns with AKR1B1: view

Protein tissue co-expression partners for AKR1B1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia AKR1B1 35
  • 87.34 (n)
  • 86.39 (a)
-- 36
  • 71 (a)
OneToMany
AKR1B1 36
  • 86 (a)
OneToMany
dog
(Canis familiaris)
Mammalia AKR1B1 35
  • 88.5 (n)
  • 89.87 (a)
-- 36
  • 72 (a)
OneToMany
AKR1B1 36
  • 90 (a)
OneToMany
AKR1B1 36
  • 90 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Akr1b3 35
  • 85.93 (n)
  • 85.71 (a)
Akr1b3 16
Akr1b3 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AKR1B1 35
  • 99.58 (n)
  • 99.05 (a)
AKR1B1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Akr1b1 35
  • 86.35 (n)
  • 85.71 (a)
oppossum
(Monodelphis domestica)
Mammalia AKR1B1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akr1b1 35
  • 71.02 (n)
  • 72.29 (a)
Str.8655 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68609 35
zebrafish
(Danio rerio)
Actinopterygii Dr.6142 35
si:dkey-180p18.9 35
  • 69.83 (n)
  • 73.1 (a)
si:dkey-180p18.9 36
  • 68 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9690 35
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH10614 37
  • 46 (a)
CG10638 37
  • 45 (a)
CG12766 37
  • 48 (a)
CG2767 37
  • 41 (a)
CG6083 37
  • 50 (a)
CG6084 37
  • 60 (a)
CG9436 37
  • 44 (a)
CG6084 36
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C01G5.5 37
  • 33 (a)
C07D8.6 37
  • 39 (a)
C35D10.6 37
  • 32 (a)
F53F1.2 37
  • 32 (a)
F53F1.3 37
  • 34 (a)
T08H10.1 37
  • 42 (a)
Y39G8B.1a 37
  • 47 (a)
Y39G8B.1b 37
  • 47 (a)
Y39G8B.2 37
  • 36 (a)
ZC443.1 37
  • 36 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.10389 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToMany
Species with no ortholog for AKR1B1:
  • 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)

Paralogs for AKR1B1 Gene

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

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

Variants for AKR1B1 Gene

Sequence variations from dbSNP and Humsavar for AKR1B1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs5054 - 134,459,020(-) TGCCC(A/T)TCCTG reference, missense, utr-variant-5-prime
rs5056 - 134,451,695(+) CCGCC(A/T)CATCG reference, missense, utr-variant-5-prime
rs5057 - 134,451,603(+) AGGAG(C/G)TCTTC reference, missense, utr-variant-5-prime
rs5061 - 134,448,436(-) CCAAA(A/G)GCATC reference, missense
rs5062 - 134,445,283(-) GACCA(C/T)CTTAC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv889222 CNV Gain 21882294

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)

Relevant External Links for AKR1B1 Gene

Human Gene Mutation Database (HGMD)
AKR1B1

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

Disorders for AKR1B1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
diabetic neuropathy
  • diabetic neuropathies
diabetic cataract
  • cataract - diabetic
diabetic autonomic neuropathy
  • diabetic neuropathies
diabetic polyneuropathy
  • diabetes mellitus with polyneuropathy
retinal vascular disease
  • retina circulation disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for AKR1B1

Genetic Association Database (GAD)
AKR1B1
Human Genome Epidemiology (HuGE) Navigator
AKR1B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AKR1B1
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 J.K. … Hanson R.L. (Diabet. Med. 2006) 3 23 48 67
  2. Inhibition of aldose reductase prevents growth factor-induced G1-S phase transition through the AKT/phosphoinositide 3-kinase/E2F-1 pathway in human colon cancer cells. (PMID: 20354121) Ramana K.V. … Srivastava S.K. (Mol. Cancer Ther. 2010) 3 23
  3. Expression analysis of the aldo-keto reductases involved in the novel biosynthetic pathway of tetrahydrobiopterin in human and mouse tissues. (PMID: 19273550) Hirakawa H. … Iino T. (J. Biochem. 2009) 3 23
  4. Inhibition of aldose reductase by dietary antioxidant curcumin: mechanism of inhibition, specificity and significance. (PMID: 19850041) Muthenna P. … Reddy G.B. (FEBS Lett. 2009) 3 23
  5. Upregulation of aldose reductase during foam cell formation as possible link among diabetes, hyperlipidemia, and atherosclerosis. (PMID: 18451330) Gleissner C.A. … Ley K. (Arterioscler. Thromb. Vasc. Biol. 2008) 3 23

Products for AKR1B1 Gene

Sources for AKR1B1 Gene

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