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Aliases for AKR1B1 Gene

Aliases for AKR1B1 Gene

  • Aldo-Keto Reductase Family 1, Member B1 (Aldose Reductase) 2 3
  • ALDR1 3 4 6
  • Aldo-Keto Reductase Family 1 Member B1 3 4
  • EC 1.1.1.21 4 63
  • AR 3 4
  • Lii5-2 CTCL Tumor Antigen 3
  • Low Km Aldose Reductase 3
  • Aldehyde Reductase 1 3
  • Aldehyde Reductase 4
  • Aldose Reductase 3
  • 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 autonomic neuropathy. Among its related pathways are Pathways in cancer and Akt Signaling. GO annotations related to this gene include electron carrier activity and alditol:NADP+ 1-oxidoreductase 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. Aldose reductase catalyzes the rate-limiting step of the polyol pathway (the conversion of glucose to sorbitol), a pathway that is overactive in diabetes mellitus and the cause of diabetic complications. Aldose reductase is expressed in most mammalian tissues and is found at high concentrations in the seminal vesicles, lens, retina, renal medulla and sciatic nerve. Currently there is much interest in the development of pharmalogical inhibitors targeting this enzyme as a method of preventing the complications associated with chronic hyperglycemia.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AKR1B1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys12, Lys86, Lys222, Lys243, and Lys263
  • Modification sites at PhosphoSitePlus

Other Protein References for AKR1B1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for AKR1B1 Gene

Gene Families for AKR1B1 Gene

HGNC:
  • AKR :Aldo-keto reductases

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 :
  • P15121
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

Gene Ontology (GO) - Molecular Function for AKR1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004032 alditol:NADP+ 1-oxidoreductase activity IEA --
GO:0004033 aldo-keto reductase (NADP) activity TAS 8435445
GO:0009055 electron carrier activity TAS 2112546
GO:0016491 oxidoreductase activity --
GO:0043795 glyceraldehyde oxidoreductase activity IDA 20837989
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:

miRNA for AKR1B1 Gene

miRTarBase miRNAs that target AKR1B1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AKR1B1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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 4
extracellular 4
nucleus 4
cytoskeleton 2
mitochondrion 2
plasma membrane 2
vacuole 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AKR1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space TAS 2112546
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AKR1B1: view

Pathways for AKR1B1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for AKR1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006000 fructose metabolic process TAS --
GO:0006700 C21-steroid hormone biosynthetic process TAS --
GO:0006950 response to stress TAS 8435445
GO:0008202 steroid metabolic process TAS --
genes like me logo Genes that share ontologies with AKR1B1: view

Compounds for AKR1B1 Gene

(2) Tocris Compounds for AKR1B1 Gene

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

(18) HMDB Compounds for AKR1B1 Gene

Compound Synonyms Cas Number PubMed IDs
(S)-Propane-1,2-diol
  • (2S)-propane-1,2-diol
4254-15-3
Alpha-D-Glucose
  • Hexopyranose
492-62-6
D-Galactose
  • (+)-Galactose
59-23-4
D-Lactaldehyde
  • (2R)-2-hydroxypropanal
3946-09-6
D-Xylitol
  • D-Xylitol
87-99-0

(122) Novoseek inferred chemical compound relationships for AKR1B1 Gene

Compound -log(P) Hits PubMed IDs
aldose 99.5 516
tolrestat 95.8 52
epalrestat 95.4 67
sorbinil 95 56
zopolrestat 92.6 27
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AKR1B1

Primer Products

Flow Cytometry Products

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adrenal Gland (23.9).

Integrated Proteomics: protein expression 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 expressions with AKR1B1: view

In Situ Assay Products

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 35
  • 99.58 (n)
  • 99.05 (a)
AKR1B1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 71 (a)
OneToMany
AKR1B1 35
  • 87.34 (n)
  • 86.39 (a)
AKR1B1 36
  • 86 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 72 (a)
OneToMany
AKR1B1 35
  • 88.5 (n)
  • 89.87 (a)
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
oppossum
(Monodelphis domestica)
Mammalia AKR1B1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Akr1b1 35
  • 86.35 (n)
  • 85.71 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68609 35
tropical clawed frog
(Silurana tropicalis)
Amphibia akr1b1 35
  • 71.02 (n)
  • 72.29 (a)
Str.8655 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9690 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
fruit fly
(Drosophila melanogaster)
Insecta CG6084 36
  • 52 (a)
OneToMany
CG6084 37
  • 60 (a)
CG10638 37
  • 45 (a)
CG6083 37
  • 50 (a)
BcDNA:GH10614 37
  • 46 (a)
CG9436 37
  • 44 (a)
CG2767 37
  • 41 (a)
CG12766 37
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea T08H10.1 37
  • 42 (a)
C07D8.6 37
  • 39 (a)
Y39G8B.1b 37
  • 47 (a)
C01G5.5 37
  • 33 (a)
F53F1.2 37
  • 32 (a)
ZC443.1 37
  • 36 (a)
Y39G8B.2 37
  • 36 (a)
F53F1.3 37
  • 34 (a)
C35D10.6 37
  • 32 (a)
Y39G8B.1a 37
  • 47 (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

Paralogs for AKR1B1 Gene

Selected 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 MAF
rs5053 -- 134,459,111(+) TGGCC(C/G)CGGCG utr-variant-5-prime
rs5054 - 134,459,020(-) TGCCC(A/T)TCCTG reference, missense, utr-variant-5-prime
rs5055 -- 134,442,650(-) TAGTA(G/T)GGCCT utr-variant-3-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

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

Variant ID Type Subtype PubMed ID
nsv889222 CNV Gain 21882294

Relevant External Links for AKR1B1 Gene

HapMap Linkage Disequilibrium report
AKR1B1
Human Gene Mutation Database (HGMD)
AKR1B1

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

Disorders for AKR1B1 Gene

(67) Novoseek inferred disease relationships for AKR1B1 Gene

Disease -log(P) Hits PubMed IDs
diabetic neuropathies 89.1 78
diabetic cataract 84 12
hyperglycemia 75 37
diabetic retinopathy 74.8 58
retinopathy 72.8 24

Relevant External Links for AKR1B1

Genetic Association Database (GAD)
AKR1B1
Human Genome Epidemiology (HuGE) Navigator
AKR1B1
genes like me logo Genes that share disorders with AKR1B1: view

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

Publications for AKR1B1 Gene

  1. An unlikely sugar substrate site in the 1.65 A structure of the human aldose reductase holoenzyme implicated in diabetic complications. (PMID: 1621098) Wilson D.K. … Quiocho F.A. (Science 1992) 3 4 23
  2. Cloning and prokaryotic expression of a biologically active human placental aldose reductase. (PMID: 2111143) Grundmann U. … Amann E. (DNA Cell Biol. 1990) 3 4 23
  3. Cloning and expression of human aldose reductase. (PMID: 2112546) Nishimura C. … Flynn T.G. (J. Biol. Chem. 1990) 3 4 23
  4. The crystal structure of the aldose reductase.NADPH binary complex. (PMID: 1447221) Borhani D.W. … Pertrash J.M. (J. Biol. Chem. 1992) 3 4 23
  5. Refined 1.8-A structure of human aldose reductase complexed with the potent inhibitor zopolrestat. (PMID: 8234324) Wilson D.K. … Quiocho F.A. (Proc. Natl. Acad. Sci. U.S.A. 1993) 3 4 23

Products for AKR1B1 Gene

Sources for AKR1B1 Gene

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