Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AKR1B1 Gene

Aliases for AKR1B1 Gene

  • Aldo-Keto Reductase Family 1 Member B 2 3 5
  • Aldo-Keto Reductase Family 1 Member B1 3 4
  • Aldose Reductase 2 3
  • EC 1.1.1.21 4 61
  • ALDR1 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 61
  • 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 B) is a Protein Coding gene. Diseases associated with AKR1B1 include Diabetic Neuropathy and Diabetic Cataract. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. 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 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F134447 1 Ensembl ENCODE 12.7 +8.0 8027 8.3 HDAC1 ATF1 CBX3 NFRKB SIN3A GATA2 SCRT2 FOS CREM ZBTB2 AKR1B15 AKR1B1 LOC105375519
GH07F134443 0.2 ENCODE 12.3 +15.0 15032 2.0 ZNF263 SCRT1 CTCF ZNF687 RNF2 ZNF740 HLF NRF1 RAD21 ZNF335 AKR1B1 LOC105375519
GH07F134457 0.9 FANTOM5 ENCODE 8.9 +0.4 407 2.8 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF143 SP3 NFYC REST KAT8 AKR1B15 WDR91 AKR1B1 LOC105375519
GH07F134527 0.8 Ensembl ENCODE 7.4 -68.6 -68598 1.8 HDGF HDAC1 CBX3 SIN3A ZNF366 FOS MIER1 SP5 CEBPB ELF1 AKR1B15 AKR1B1 AKR1B10
GH07F134431 0.8 ENCODE 5.8 +26.8 26788 1.9 HDGF ATF1 ARID4B SIN3A ZNF2 YY1 GLIS2 ZNF143 ZNF263 SP3 LOC105375519 SLC35B4 AKR1B1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000159060 484 1601 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF143 SP3 NFYC REST KAT8
ENSR00001896561 1584 201 SCRT2

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

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

Domains & Families for AKR1B1 Gene

Gene Families 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

Gene Ontology (GO) - Molecular Function for AKR1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004032 alditol:NADP+ 1-oxidoreductase activity EXP,IEA 1420136
GO:0004033 aldo-keto reductase (NADP) activity TAS 8435445
GO:0009055 electron carrier activity TAS 2112546
GO:0016491 oxidoreductase activity IEA --
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:

Animal Model Products

miRNA for AKR1B1 Gene

miRTarBase miRNAs that target AKR1B1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
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:0005615 extracellular space IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IEA,TAS --
GO:0032838 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:0001894 tissue homeostasis IEA --
GO:0003091 renal water homeostasis IEA --
GO:0005975 carbohydrate metabolic process TAS 2112546
GO:0005996 monosaccharide metabolic process IEA --
GO:0006061 sorbitol biosynthetic 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

(100) 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
Glycerol Approved, Experimental Pharma 223
Sorbitol Approved Pharma 31
Alrestatin Experimental Pharma Target Aldose reductase inhibitor 0
Sorbinil Experimental Pharma inhibitor, Target 0

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

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

(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

Transcripts for AKR1B1 Gene

Unigene Clusters for AKR1B1 Gene

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

Inhibitory RNA Products

Clone 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 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, MaxQB, and MOPED for AKR1B1 Gene



Protein tissue co-expression partners for AKR1B1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AKR1B1 Gene:

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

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
chimpanzee
(Pan troglodytes)
Mammalia AKR1B1 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia AKR1B1 34 35 35
  • 88.5 (n)
-- 35
  • 72 (a)
OneToMany
cow
(Bos Taurus)
Mammalia AKR1B1 34 35
  • 87.34 (n)
-- 35
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Akr1b1 34
  • 86.35 (n)
mouse
(Mus musculus)
Mammalia Akr1b3 34 16 35
  • 85.93 (n)
oppossum
(Monodelphis domestica)
Mammalia AKR1B1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia akr1b1 34
  • 71.02 (n)
Str.8655 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68609 34
zebrafish
(Danio rerio)
Actinopterygii si:dkey-180p18.9 34 35
  • 69.83 (n)
Dr.6142 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9690 34
fruit fly
(Drosophila melanogaster)
Insecta CG6084 36 35
  • 60 (a)
CG6083 36
  • 50 (a)
CG12766 36
  • 48 (a)
BcDNA:GH10614 36
  • 46 (a)
CG10638 36
  • 45 (a)
CG9436 36
  • 44 (a)
CG2767 36
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea Y39G8B.1a 36
  • 47 (a)
Y39G8B.1b 36
  • 47 (a)
T08H10.1 36
  • 42 (a)
C07D8.6 36
  • 39 (a)
Y39G8B.2 36
  • 36 (a)
ZC443.1 36
  • 36 (a)
F53F1.3 36
  • 34 (a)
C01G5.5 36
  • 33 (a)
C35D10.6 36
  • 32 (a)
F53F1.2 36
  • 32 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.10389 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for AKR1B1 Gene

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
rs10273906 -- 134,453,911(+) CTATG(A/G)TGAGA intron-variant
rs10588800 -- 134,456,784(+) GACAT(-/TAT)CCAAT intron-variant
rs10808275 -- 134,447,723(+) ATGAG(C/G)TTCCA intron-variant
rs10954455 -- 134,447,700(+) TAAGA(C/G)CTCTT intron-variant
rs111228012 -- 134,459,474(+) TTTGG(A/G)AATCT upstream-variant-2KB

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)

Relevant External Links 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

(19) 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 22 46 64
  2. Aldose reductase gene is associated with diabetic macroangiopathy in Japanese Type 2 diabetic patients. (PMID: 16911628) Watarai A. … Nakamura J. (Diabet. Med. 2006) 3 22 46 64
  3. Aldose reductase gene polymorphisms and susceptibility to microvascular complications in Type 2 diabetes. (PMID: 15569136) Sivenius K. … Uusitupa M. (Diabet. Med. 2004) 3 22 46 64
  4. (AC)(n) polymorphism of aldose reductase gene and diabetic microvascular complications in type 2 diabetes mellitus. (PMID: 11796181) Park H.K. … Lee H.C. (Diabetes Res. Clin. Pract. 2002) 3 22 46 64
  5. Identification and characterization of multiple osmotic response sequences in the human aldose reductase gene. (PMID: 9195951) Ko B.C.B. … Chung S.S. (J. Biol. Chem. 1997) 3 4 22 64

Products for AKR1B1 Gene

Sources for AKR1B1 Gene

Content
Loading form....