Human Gene AKR1B1 (ENST00000285930.9) Description and Page Index
  Description: Homo sapiens aldo-keto reductase family 1 member B (AKR1B1), transcript variant 1, mRNA. (from RefSeq NM_001628)
RefSeq Summary (NM_001628): 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].
Gencode Transcript: ENST00000285930.9
Gencode Gene: ENSG00000085662.14
Transcript (Including UTRs)
   Position: hg38 chr7:134,442,356-134,459,100 Size: 16,745 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr7:134,442,728-134,459,062 Size: 16,335 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:134,442,356-134,459,100)mRNA (may differ from genome)Protein (316 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ALDR_HUMAN
DESCRIPTION: RecName: Full=Aldose reductase; Short=AR; EC=1.1.1.21; AltName: Full=Aldehyde reductase; AltName: Full=Aldo-keto reductase family 1 member B1;
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.
CATALYTIC ACTIVITY: Alditol + NAD(P)(+) = aldose + NAD(P)H.
ENZYME REGULATION: Cys-299 may regulate the kinetic and inhibition properties of the enzyme, but does not participate in catalysis.
SUBUNIT: Monomer.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Highly expressed in embryonic epithelial cells (EUE) in response to osmotic stress.
SIMILARITY: Belongs to the aldo/keto reductase family.

-  MalaCards Disease Associations
  MalaCards Gene Search: AKR1B1
Diseases sorted by gene-association score: diabetic neuropathy (37), diabetic cataract (36), diabetic autonomic neuropathy (30), diabetic polyneuropathy (29), polyradiculopathy (18), retinal vascular disease (15), microvascular complications of diabetes 5 (13), hyperglycemia (13), galactokinase deficiency with cataracts (12), autonomic neuropathy (11), keratopathy (9), diabetes mellitus, insulin-dependent (8), lens disease (7), microvascular complications of diabetes 3 (6), polyneuropathy (6), mesenteric lymphadenitis (6), griscelli syndrome, type 1 (5), diabetes mellitus, noninsulin-dependent (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1711.83 RPKM in Adrenal Gland
Total median expression: 3486.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.6038-0.279 Picture PostScript Text
3' UTR -102.60372-0.276 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001395 - Aldo/ket_red
IPR018170 - Aldo/ket_reductase_CS
IPR020471 - Aldo/keto_reductase_subgr
IPR023210 - NADP_OxRdtase_dom

Pfam Domains:
PF00248 - Aldo/keto reductase family

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1ABN
- X-ray MuPIT

1ADS
- X-ray MuPIT

1AZ1
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
1AZ2 - X-ray MuPIT 1EF3 - X-ray MuPIT 1EL3 - X-ray MuPIT
1IEI - X-ray MuPIT 1MAR - X-ray MuPIT 1PWL - X-ray MuPIT
1PWM - X-ray MuPIT 1T40 - X-ray MuPIT 1T41 - X-ray MuPIT
1US0 - X-ray MuPIT 1X96 - X-ray MuPIT 1X97 - X-ray MuPIT
1X98 - X-ray MuPIT 1XGD - X-ray MuPIT 1Z3N - X-ray MuPIT
1Z89 - X-ray MuPIT 1Z8A - X-ray MuPIT 2ACQ - X-ray MuPIT
2ACR - X-ray MuPIT 2ACS - X-ray MuPIT 2ACU - X-ray MuPIT
2AGT - X-ray MuPIT 2DUX - X-ray MuPIT 2DUZ - X-ray MuPIT
2DV0 - X-ray MuPIT 2F2K - X-ray MuPIT 2FZ8 - X-ray MuPIT
2FZ9 - X-ray MuPIT 2FZB - X-ray MuPIT 2FZD - X-ray MuPIT
2HV5 - X-ray MuPIT 2HVN - X-ray MuPIT 2HVO - X-ray MuPIT
2I16 - X-ray MuPIT 2I17 - X-ray MuPIT 2IKG - X-ray MuPIT
2IKH - X-ray MuPIT 2IKI - X-ray MuPIT 2IKJ - X-ray MuPIT
2INE - X-ray MuPIT 2INZ - X-ray MuPIT 2IPW - X-ray MuPIT
2IQ0 - X-ray MuPIT 2IQD - X-ray MuPIT 2IS7 - X-ray MuPIT
2ISF - X-ray MuPIT 2J8T - X-ray MuPIT 2NVC - X-ray MuPIT
2NVD - X-ray MuPIT 2PD5 - X-ray MuPIT 2PD9 - X-ray MuPIT
2PDB - X-ray MuPIT 2PDC - X-ray MuPIT 2PDF - X-ray MuPIT
2PDG - X-ray MuPIT 2PDH - X-ray MuPIT 2PDI - X-ray MuPIT
2PDJ - X-ray MuPIT 2PDK - X-ray MuPIT 2PDL - X-ray MuPIT
2PDM - X-ray MuPIT 2PDN - X-ray MuPIT 2PDP - X-ray MuPIT
2PDQ - X-ray MuPIT 2PDU - X-ray MuPIT 2PDW - X-ray MuPIT
2PDX - X-ray MuPIT 2PDY - X-ray MuPIT 2PEV - X-ray MuPIT
2PF8 - X-ray MuPIT 2PFH - X-ray MuPIT 2PZN - X-ray MuPIT
2QXW - X-ray MuPIT 2R24 - X-ray 3BCJ - X-ray MuPIT
3DN5 - X-ray MuPIT 3G5E - X-ray MuPIT 3GHR - X-ray MuPIT
3GHS - X-ray MuPIT 3GHT - X-ray MuPIT 3GHU - X-ray MuPIT
3LBO - X-ray MuPIT 3LD5 - X-ray MuPIT 3LEN - X-ray MuPIT
3LEP - X-ray MuPIT 3LQG - X-ray MuPIT 3LQL - X-ray MuPIT
3LZ3 - X-ray MuPIT 3LZ5 - X-ray MuPIT 3M0I - X-ray MuPIT
3M4H - X-ray MuPIT 3M64 - X-ray MuPIT 3MB9 - X-ray MuPIT
3MC5 - X-ray MuPIT 3ONB - X-ray MuPIT 3ONC - X-ray MuPIT
3P2V - X-ray MuPIT 3Q65 - X-ray MuPIT 3Q67 - X-ray MuPIT
3RX2 - X-ray MuPIT 3RX3 - X-ray MuPIT 3RX4 - X-ray MuPIT
3S3G - X-ray MuPIT 3T42 - X-ray MuPIT 3U2C - X-ray MuPIT
3V35 - X-ray MuPIT 3V36 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P15121
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004032 alditol:NADP+ 1-oxidoreductase activity
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0043795 glyceraldehyde oxidoreductase activity

Biological Process:
GO:0001894 tissue homeostasis
GO:0003091 renal water homeostasis
GO:0005975 carbohydrate metabolic process
GO:0005996 monosaccharide metabolic process
GO:0006061 sorbitol biosynthetic process
GO:0006700 C21-steroid hormone biosynthetic process
GO:0009414 response to water deprivation
GO:0010033 response to organic substance
GO:0018931 naphthalene metabolic process
GO:0022900 electron transport chain
GO:0031098 stress-activated protein kinase signaling cascade
GO:0035809 regulation of urine volume
GO:0042415 norepinephrine metabolic process
GO:0043066 negative regulation of apoptotic process
GO:0044597 daunorubicin metabolic process
GO:0044598 doxorubicin metabolic process
GO:0046370 fructose biosynthetic process
GO:0046427 positive regulation of JAK-STAT cascade
GO:0048661 positive regulation of smooth muscle cell proliferation
GO:0055114 oxidation-reduction process
GO:0060135 maternal process involved in female pregnancy
GO:0071475 cellular hyperosmotic salinity response
GO:0072001 renal system development
GO:0072061 inner medullary collecting duct development
GO:0097066 response to thyroid hormone
GO:0097238 cellular response to methylglyoxal
GO:1901653 cellular response to peptide

Cellular Component:
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032838 cell projection cytoplasm
GO:0033010 paranodal junction
GO:0042629 mast cell granule
GO:0043220 Schmidt-Lanterman incisure
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome
GO:0097454 Schwann cell microvillus


-  Descriptions from all associated GenBank mRNAs
  BC000260 - Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase), mRNA (cDNA clone MGC:1804 IMAGE:3357652), complete cds.
HV708950 - JP 2012506450-A/48: Methods for treating eye disorders.
AF328729 - Homo sapiens CTCL tumor antigen HD-CL-07 mRNA, complete cds.
E03157 - cDNA sequence coding for aldose reductase.
AB209796 - Homo sapiens mRNA for aldo-keto reductase family 1, member B1 variant protein.
J04795 - Human aldose reductase mRNA, complete cds.
M34720 - Human aldose reductase mRNA, complete cds.
J05474 - Human aldose reductase mRNA, complete cds.
X15414 - Human mRNA for aldose reductase (EC 1.1.1.2).
AL833410 - Homo sapiens mRNA; cDNA DKFZp313C0822 (from clone DKFZp313C0822).
BC010391 - Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase), mRNA (cDNA clone MGC:13648 IMAGE:4049736), complete cds.
BC005387 - Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase), mRNA (cDNA clone MGC:12512 IMAGE:3960811), complete cds.
J05017 - Human aldose reductase mRNA, complete cds.
JD403716 - Sequence 384740 from Patent EP1572962.
JD565089 - Sequence 546113 from Patent EP1572962.
JD243030 - Sequence 224054 from Patent EP1572962.
JD279681 - Sequence 260705 from Patent EP1572962.
CR542203 - Homo sapiens full open reading frame cDNA clone RZPDo834E1224D for gene AKR1B1, aldo-keto reductase family 1, member B1 (aldose reductase); complete cds, incl. stopcodon.
KJ890661 - Synthetic construct Homo sapiens clone ccsbBroadEn_00055 AKR1B1 gene, encodes complete protein.
AK313439 - Homo sapiens cDNA, FLJ93978, Homo sapiens aldo-keto reductase family 1, member B1 (aldosereductase) (AKR1B1), mRNA.
BT019859 - Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) mRNA, complete cds.
KJ905684 - Synthetic construct Homo sapiens clone ccsbBroadEn_15354 AKR1B1 gene, encodes complete protein.
DQ890758 - Synthetic construct clone IMAGE:100003388; FLH165713.01X; RZPDo839F10160D aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1) gene, encodes complete protein.
DQ892546 - Synthetic construct clone IMAGE:100005176; FLH187361.01X; RZPDo839G0672D aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1) gene, encodes complete protein.
DQ893921 - Synthetic construct Homo sapiens clone IMAGE:100008381; FLH165709.01L; RZPDo839F10159D aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1) gene, encodes complete protein.
DQ895757 - Synthetic construct Homo sapiens clone IMAGE:100010217; FLH187357.01L; RZPDo839G0662D aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1) gene, encodes complete protein.
CR450351 - Homo sapiens full open reading frame cDNA clone RZPDo834H072D for gene AKR1B1, aldo-keto reductase family 1, member B1 (aldose reductase); complete cds; without stopcodon.
CU675153 - Synthetic construct Homo sapiens gateway clone IMAGE:100018870 5' read AKR1B1 mRNA.
AK311339 - Homo sapiens cDNA, FLJ18381.
JD409032 - Sequence 390056 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00040 - Pentose and glucuronate interconversions
hsa00051 - Fructose and mannose metabolism
hsa00052 - Galactose metabolism
hsa00561 - Glycerolipid metabolism
hsa00620 - Pyruvate metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-5453 - methylglyoxal degradation III

Reactome (by CSHL, EBI, and GO)

Protein P15121 (Reactome details) participates in the following event(s):

R-HSA-196060 Reduction of isocaproaldehyde to 4-methylpentan-1-ol
R-HSA-5652172 AKR1B1 reduces Glc to D-sorbitol
R-HSA-196108 Pregnenolone biosynthesis
R-HSA-5652227 Fructose biosynthesis
R-HSA-196071 Metabolism of steroid hormones
R-HSA-209943 Steroid hormones
R-HSA-5652084 Fructose metabolism
R-HSA-8957322 Metabolism of steroids
R-HSA-71387 Metabolism of carbohydrates
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ALDR1, ALDR_HUMAN, B2R8N3, NM_001628, P15121, Q5U031, Q6FGA4, Q6ICP2, Q9BS21, Q9UCI9, uc003vrp.1, uc003vrp.2, uc003vrp.3
UCSC ID: uc003vrp.3
RefSeq Accession: NM_001628
Protein: P15121 (aka ALDR_HUMAN)
CCDS: CCDS5831.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.