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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AKR1B1 Gene

protein-coding GIFtS: 74
GCID: GC07M134127

aldo-keto reductase family 1, member B1 (aldose reductase)

(Previous symbol: ALDR1)

Explore 71 diseases affiliated with
AKR1B1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Aldo-Keto Reductase Family 1, Member B1 (Aldose Reductase)¹ ²		Aldehyde Reductase 1²
ALDR1¹ ² ³ ⁵		Aldose Reductase²
AR¹ ² ³		Lii5-2 CTCL Tumor Antigen²
Aldo-Keto Reductase Family 1 Member B1² ³		Low Km Aldose Reductase²
EC 1.1.1.21³ ⁸		Aldehyde Reductase³
ADR²		EC 1.1.1⁸
ALR2²

External Ids:	HGNC: 381¹	Entrez Gene: 231²	Ensembl: ENSG00000085662⁷	OMIM: 103880⁵	UniProtKB: P15121³

Export aliases for AKR1B1 gene to outside databases

Previous GC identifers: GC07M132469 GC07M133529 GC07M133543 GC07M133346 GC07M133584 GC07M133778 GC07M128428

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AKR1B1:

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)

UniProtKB/Swiss-Prot: ALDR_HUMAN, P15121

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

summary for AKR1B1:

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AKR1B1 gene promoter:
GR AP-1 ATF-2 GR-beta STAT5A c-Jun GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AKR1B1 promoter sequence

Search SABiosciences Chromatin IP Primers for AKR1B1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKR1B1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q35 Ensembl cytogenetic band: 7q33 HGNC cytogenetic band: 7q35

AKR1B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKR1B1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M134127: view genomic region (about GC identifiers)

Start:	134,127,107 bp from pter	End:	134,144,036 bp from pter
Size:	16,930 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 133,471,421-133,488,201

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ALDR_HUMAN, P15121 (See protein sequence)

Recommended Name: Aldose reductase

Size: 316 amino acids; 35853 Da

Subunit: Monomer

Subcellular location: Cytoplasm

6/111 PDB 3D structures from and Proteopedia for AKR1B1 (see all 111):

1ABN (3D)

1ADS (3D)

1AZ1 (3D)

1AZ2 (3D)

1EF3 (3D)

1EL3 (3D)

Secondary accessions: B2R8N3 Q5U031 Q6FGA4 Q6ICP2 Q9BS21 Q9UCI9

Explore the universe of human proteins at neXtProt for AKR1B1: NX_P15121

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P15121

4/13 DME Specific Peptides for AKR1B1 (P15121) (see all 13)

IPKSVTP

GLGTWKS

DLKLDYLD

LFIVSKLW

AKR1B1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001619.1

ENSEMBL proteins:

ENSP00000285930 ENSP00000414399 ENSP00000413205

Reactome Protein details: P15121
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for AKR1B1
	Uscn Proteins for AKR1B1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	TAS	2112546
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--

AKR1B1 for ontologies About GeneDecksing

AKR1B1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of AKR1B1
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	Novus Biologicals AKR1B1 Antibodies
	Abcam antibodies for AKR1B1
	Uscn Antibodies for AKR1B1
	ThermoFisher Antibodies for AKR1B1

Assay Products for AKR1B1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for AKR1B1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for AKR1B1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AKR1B1 for domains About GeneDecksing

4 InterPro domains/families:

IPR001395 Aldo/ket_red

IPR018170 Aldo/ket_reductase_CS

IPR020471 Aldo/keto_reductase_subgr

IPR023210 NADP_OxRdtase_dom

Graphical View of Domain Structure for InterPro Entry P15121

ProtoNet protein and cluster: P15121

1 Blocks protein family: IPB001395 Aldo/keto reductase

UniProtKB/Swiss-Prot: ALDR_HUMAN, P15121

Similarity: Belongs to the aldo/keto reductase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ALDR_HUMAN, P15121

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

Genatlas biochemistry entry for AKR1B1:

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

Enzyme Numbers (IUBMB): EC 1.1.1.21¹ ² EC 1.1.1²

miRNA Products:		miRTarBase miRNAs that target AKR1B1: hsa-mir-488 (MIRT003789)

		OriGene 3'-UTR Clone: AKR1B1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AKR1B1
		1 QIAGEN miScript miRNA Assays for microRNA that regulate AKR1B1:
		hsa-miR-1304
		SwitchGear 3'UTR luciferase reporter plasmid: AKR1B1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AKR1B1 (see all 4) OriGene shRNA RFP: AKR1B1 OriGene siRNA: AKR1B1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AKR1B1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for AKR1B1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AKR1B1 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AKR1B1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: AKR1B1 (NM_001628)
		Sino Biological Human cDNA Clone for AKR1B1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for AKR1B1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKR1B1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for AKR1B1
		Search LifeMap BioReagents cell lines for AKR1B1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1B1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

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	--

AKR1B1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for AKR1B1:

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-outs for AKR1B1: Akr1b3^tm1Tona Akr1b3^tm1Skc
7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Akr1b3):

behavior/neurological	growth/size	homeostasis/metabolism	mortality/aging	renal/urinary system
skeleton	vision/eye

AKR1B1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Naphthalene metabolism

Naphthalene metabolism

1.00

Naphthalene metabolism

1.00

acetone degradation I (to methylglyoxal)

acetone degradation I (to methylglyoxal)

1.00

methylglyoxal degradation III

0.38

Vitamin D (calciferol) metabolism

Metabolism of steroid hormones and vitamin D

0.27

Steroid hormones

0.27

Pyruvate metabolism

Pyruvate metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for AKR1B1

Naphthalene metabolism

1 GeneGo (Thomson Reuters) Pathway for AKR1B1

Naphthalene metabolism

4 BioSystems Pathways for AKR1B1

	Polyol pathway
	acetone degradation I (to methylglyoxal)
	methylglyoxal degradation III
	metapathway biotransformation

5 Reactome Pathways for AKR1B1

	Metabolism of steroid hormones and vitamin D
	Metabolism
	Pregnenolone biosynthesis
	Steroid hormones
	Metabolism of lipids and lipoproteins

1 PharmGKB Pathway for AKR1B1

Cyclophosphamide Pathway, Pharmacodynamics

5/6 Kegg Pathways (Kegg details for AKR1B1) (see all 6):

	Pentose and glucuronate interconversions
	Fructose and mannose metabolism
	Galactose metabolism
	Glycerolipid metabolism
	Pyruvate metabolism

AKR1B1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for AKR1B1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/52 Interacting proteins for AKR1B1 (P15121^{2, 3} ENSP00000285930⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD1	Q15797²^,³	MINT-62012 I2D: score=3
PRMT2	P55345²^,³, ENSP00000347906⁴	MINT-8290942 MINT-8291016 I2D: score=1 STRING: ENSP00000347906
PAX7	P23759³, ENSP00000364524⁴	I2D: score=1 STRING: ENSP00000364524
DST	Q03001³, ENSP00000359790⁴	I2D: score=1 STRING: ENSP00000359790
DSP	P15924³, ENSP00000369129⁴	I2D: score=1 STRING: ENSP00000369129

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	2112546
GO:0006700	C21-steroid hormone biosynthetic process	TAS	--
GO:0006950	response to stress	TAS	8435445
GO:0008202	steroid metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

AKR1B1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AKR1B1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for AKR1B1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Alrestatin	Aldose reductase inhibitor	[51411-04-2]
EBPC	Aldose reductase inhibitor	[57056-57-2]

10/18 HMDB Compounds for AKR1B1 (see all 18) About this table

Compound	Synonyms	CAS #	PubMed Ids
(S)-Propane-1,2-diol	(2S)-propane-1,2-diol (see all 3)	4254-15-3	--
Alpha-D-Glucose	Hexopyranose (see all 11)	492-62-6	--
D-Galactose	(+)-Galactose (see all 14)	59-23-4	--
D-Lactaldehyde	(2R)-2-hydroxypropanal (see all 4)	3946-09-6	--
D-Xylitol	D-Xylitol (see all 20)	87-99-0	--
D-Xylose	d-Xylose (see all 8)	58-86-6	--
Galactitol	Dulcose (see all 13)	608-66-2	--
Glyceraldehyde	(+/-)-2,3-dihydroxy-Propanal (see all 24)	56-82-6	--
Glycerol	1,2,3-Trihydroxypropane (see all 22)	56-81-5	--
L-Arabinose	Arabinose (see all 3)	5328-37-0	--

10/29 DrugBank Compounds for AKR1B1 (see all 29) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Sulindac	--	38194-50-2	target	inhibitor	8529171 3920599 6409111 2632448 11752352 6413448
2'-Monophosphoadenosine 5'-Diphosphoribose	--	--	target	--	17139284 17016423 10592235
Alrestatin	--	51411-04-2	target	--	17139284 17016423 10592235
IDD552	--	--	target	--	17139284 17016423 10592235
Inhibitor Idd 384	--	--	target	--	17139284 17016423 10592235
N-Acetylalanine	--	97-69-8	target	--	17139284 17016423 10592235
[3-(4-Bromo-2-Fluoro-Benzyl)-7-Chloro-2,4-Dioxo-3,4-Dihydro-2h-Quinazolin-1-Yl]-Acetic Acid	--	--	target	--	17139284 17016423 10592235
Alpha-D-Glucose-6-Phosphate	--	--	target	--	17139284 17016423
Citric Acid	--	77-92-9	target	--	17139284 17016423
Fidarestat(Stereoisomer)	--	--	target	--	17139284 17016423

10/122 Novoseek chemical compound relationships for AKR1B1 gene (see all 122) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
aldose	99.5	2542	1901806 (10), 15736047 (10), 7748183 (9), 15746188 (9) (see all 99)
tolrestat	95.8	56	2119323 (3), 12604217 (2), 9871575 (2), 9186297 (2) (see all 47)
epalrestat	95.4	81	18644069 (3), 9681489 (2), 12200074 (2), 7585850 (2) (see all 48)
sorbinil	95	67	2157439 (3), 2122961 (2), 1472112 (2), 1907924 (2) (see all 50)
zopolrestat	92.6	32	17898287 (3), 7929871 (2), 15530506 (2), 10737739 (2) (see all 21)
ponalrestat	92.4	50	10226565 (3), 1902410 (2), 1611835 (2), 10628361 (2) (see all 28)
fidarestat	91.6	38	19594152 (4), 10882376 (4), 10706394 (3), 11359994 (3) (see all 18)
ranirestat	91	14	19212096 (2), 18363521 (2), 17593238 (1), 16373898 (1) (see all 7)
alrestatin	89.9	14	8003482 (2), 9405046 (2), 2157439 (2), 11461193 (1) (see all 7)
mannitol	89.2	290	14583178 (6), 15967436 (5), 1901456 (4), 1936586 (4) (see all 99)

Search CenterWatch for drugs/clinical trials and news about AKR1B1 / ALDR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AKR1B1 gene:

NM_001628.2

Unigene Cluster for AKR1B1:

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

Hs.521212 [show with all ESTs]

Unigene Representative Sequence: AB209796

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000285930(uc003vrp.1) ENST00000434222 ENST00000465351 ENST00000494491

ENST00000467251 ENST00000498771 ENST00000498373 ENST00000487438 ENST00000489022

ENST00000491741 ENST00000497983 ENST00000484592 ENST00000467829 ENST00000426422

ENST00000462784

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AKR1B1
		1 QIAGEN miScript miRNA Assays for microRNA that regulate AKR1B1:
		hsa-miR-1304
		SwitchGear 3'UTR luciferase reporter plasmid: AKR1B1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AKR1B1 (see all 4) OriGene shRNA RFP: AKR1B1 OriGene siRNA: AKR1B1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AKR1B1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AKR1B1 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AKR1B1 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: AKR1B1 (NM_001628)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKR1B1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AKR1B1

Additional cDNA sequence:

AB209796.1 AF328729.1 AK311339.1 AK313439.1 BC000260.1 BC005387.1 BC010391.1 BT019859.1

CR450351.1 CR542203.1 J04795.1 J05017.1 J05474.1 M34720.1 X15414.1

24/50 DOTS entries (see all 50):

DT.91938612 DT.100637594 DT.91911063 DT.95182901 DT.95182930 DT.448405 DT.121060998 DT.95197736

DT.100709235 DT.121061101 DT.121060563 DT.40259704 DT.92466151 DT.121060534 DT.121060712 DT.219759

DT.100851794 DT.95182925 DT.121061093 DT.95182906 DT.100674627 DT.100728479 DT.121060798 DT.121439753

24/899 AceView cDNA sequences (see all 899):

CR615638 BF197706 BQ687398 BM458480 BI838818 BX363239 BM720881 CB106863

AA631845 AV707796 CR608857 AA649933 AW672843 BM760915 CR619588 AU160665

AA600699 CB120229 AI075417 CR625913 CR613806 CR592404 BE790316 BI517436

GeneLoc Exon Structure

5/14 Alternative Splicing Database (ASD) splice patterns (SP) for AKR1B1 (see all 14) About this scheme

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:																	-						-		-		-		-		-		-		-		-		-										-

ExUns:	10b	·	10c	^	11	^	12a	·	12b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for AKR1B1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AKR1B1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGAGTTTTG

About this image

AKR1B1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See AKR1B1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AKR1B1

SOURCE GeneReport for Unigene cluster: Hs.521212

UniProtKB/Swiss-Prot: ALDR_HUMAN, P15121

Tissue specificity: Highly expressed in embryonic epithelial cells (EUE) in response to osmotic stress

SABiosciences Expression via Pathway-Focused PCR Arrays including AKR1B1:

Stress & Toxicity PathwayFinder in human mouse rat

Osmotic Stress in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for AKR1B1 gene from 9/30 species (see all 30) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	AKR1B1L¹	aldo-keto reductase family 1, member B1-like (aldose more	75.32(n) 75.32(a)		418171 NM_001243590.1 NP_001230519.1
lizard (Anolis carolinensis)	Reptilia	--	--	45(a)	possible ortholog	AAWZ02039178(2232-9058)
African clawed frog (Xenopus laevis)	Amphibia	MGC68609²	hypothetical protein MGC68609	76.81(n)		BC060383.1
zebrafish (Danio rerio)	Actinopterygii	Dr.6142²	Transcribed sequence with moderate similarity to protein more	77.16(n)		CK029623.1
fruit fly (Drosophila melanogaster)	Insecta	CG6084^{1 , 3}	aldehyde reductase³ CG6084¹	60(a) (best of 7)³ 62.75(n)¹ 59.48(a)¹		68C15³ 39304¹ NM_140227.1¹ NP_648484.1¹
worm (Caenorhabditis elegans)	Secernentea	Y39G8B.1a³ CELE_Y39G8B.1¹	Protein Y39G8B.1¹	47(a) (best of 10)³ 53.5(n)¹ 47.77(a)¹		II(13970799-13972831)³ 175047¹ NM_064524.2¹ NP_496925.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	GRE3¹	Gre3p	48.19(n) 44.9(a)		856504 NP_011972.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G21250⁶ AT2G21260⁶	aldose-6-phosphate reductase (NADPH2)	43(a) 42(a)	many ↔ many many ↔ many	2(9103181-9105187) 2(9105583-9107380)
rice (Oryza sativa)	Liliopsida	NM_190596.1²	--	74.95(n)		NM_190596.1

ENSEMBL Gene Tree for AKR1B1 (if available)
TreeFam Gene Tree for AKR1B1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for AKR1B1 gene

AKR1C2² AKR1CL1² AKR1C3² AKR1B10² AKR1A1² AKR1C4² AKR1E2² AKR1B15²

AKR1D1² AKR1C1²

11 SIMAP similar genes for AKR1B1 using alignment to 3 protein entries: ALDR_HUMAN (see all proteins):

AKR1B10 AKR1B15 AKR1C1 AKR1E2 AKR1C3 AKR1CL1

AKR1C4 AKR1A1 AKR1C2 LOC402299 AKR1D1

AKR1B1 for paralogs About GeneDecksing

5/9 Pseudogenes.org Pseudogenes for AKR1B1 (see all 9)
PGOHUM00000242177 PGOHUM00000248391 PGOHUM00000247814 PGOHUM00000234983 PGOHUM00000234282

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs139390893^1,2		--	134126681(+)	`AACACC/TGACCT`	1	--	ds500¹		0	--	--	--	--
rs150057028^1,2		--	134126683(+)	`CACCGA/TCCTCG`	1	--	ds500¹		0	--	--	--	--
rs144405631^1,2		--	134126698(+)	`TCATAC/TGTAGA`	1	--	ds500¹		0	--	--	--	--
rs73724957^1,2	C,	--	134126731(+)	`GAATCG/AAACAT`	1	--	ds500¹		2		WA	120
rs17167851^1,2	C,F,	--	134127061(+)	`TGAGAT/CAGAAG`	1	--	ds500¹		9		NA WA	388
rs183787048^1,2		--	134127205(+)	`TTTGAC/GCTGGT`	1	--	ut3¹		0	--	--	--	--
rs2229543^1,2	C,F,O,A,H,	--	134127355(-)	`GCCAGC/AGAGGG`	1	--	ut3¹ ese³		12		MN NA EA NS	930
rs186296854^1,2		--	134127382(+)	`GTCCCA/GCTGCT`	1	--	ut3¹		0	--	--	--	--
rs5055^1,2	F	--	134127402(-)	`TAGTAT/GGGCCT`	1	--	ut3¹ ese³		1		MN	80
rs201593466^1,2		--	134127452(+)	`AGGTCA/GCTTGG`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for AKR1B1 (134127107 - 134144036 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AKR1B1: --
Human Gene Mutation Database (HGMD): AKR1B1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AKR1B1 for disorders           About GeneDecksing

OMIM gene information: 103880    OMIM disorders: --

20/71 diseases for AKR1B1 (see all 71):    About MalaCards

diabetes mellitus hyperglycemia autonomic neuropathy diabetic autonomic neuropathy

cataract-glaucoma type 2 diabetes mellitus proliferative diabetic retinopathy polyneuropathy

diabetic retinopathy type 1 diabetes mellitus polyradiculopathy cataract

bladder transitional cell carcinoma diabetic macular edema neuropathy diabetic polyneuropathy

galactosemia transitional cell carcinoma diabetic cataract senile cataract

7 diseases from the University of Copenhagen DISEASES database for AKR1B1:

Diabetic cataract Hepatitis B Diabetes mellitus Diabetic neuropathy

Diabetic retinopathy Hyperglycemia Hepatitis

10/67 Novoseek disease relationships for AKR1B1 gene (see all 67) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
diabetic neuropathies	89.1	89	2109678 (4), 18220710 (3), 9452821 (2), 11137177 (2) (see all 59)
diabetic cataract	84	15	12871135 (2), 16639016 (2), 1907924 (1), 14751239 (1) (see all 10)
hyperglycemia	75	47	15539002 (2), 7838591 (2), 19383984 (2), 1314495 (1) (see all 34)
diabetic retinopathy	74.8	66	12446366 (5), 17548166 (3), 19587357 (3), 16545977 (3) (see all 37)
retinopathy	72.8	27	8174849 (2), 12446366 (1), 8288059 (1), 15369682 (1) (see all 23)
diabetic nephropathies	70	39	16620264 (4), 16631535 (2), 12408275 (1), 18325349 (1) (see all 24)
microangiopathy diabetic	66.1	8	10898124 (2), 16911628 (1), 1841026 (1), 15999695 (1)
diabetes mellitus	65.5	28	1902410 (1), 7839671 (1), 18451330 (1), 19373836 (1) (see all 25)
sensorimotor polyneuropathy	65.5	3	15451902 (2), 16373898 (1)
autonomic neuropathy	65.1	8	10369429 (2), 8482988 (1), 2125013 (1), 18220710 (1) (see all 5)

Genetic Association Database (GAD): AKR1B1
Human Genome Epidemiology (HuGE) Navigator: AKR1B1 (36 documents)

Export disorders for AKR1B1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for AKR1B1 gene, integrated from 9 sources (see all 857):
(articles sorted by number of sources associating them with AKR1B1)

Utopia: connect your pdf to the dynamic
world of online information

Aldose reductase is involved in long-term adaptation of EUE cells to hyperosmotic stress. (PubMed id 8435445)^{1, 2, 9} Ferraretto A....Ronchi S. (1993)
Cloning and expression of human aldose reductase. (PubMed id 2112546)^{1, 2, 9} Nishimura C.... Flynn T.G. (1990)
Cloning and prokaryotic expression of a biologically active human placental aldose reductase. (PubMed id 2111143)^{1, 2, 9} Grundmann U.... Amann E. (1990)
The alrestatin double-decker: binding of two inhibitor molecules to human aldose reductase reveals a new specificity determinant. (PubMed id 9405046)^{1, 2, 9} Harrison D.H.... Gabbay K.H. (1997)
[Association study between diabetic retinopathy and aldose reductase gene polymorphism in Tunisians] (PubMed id 15973199)^{1, 4, 9} Zghal-Mokni I....Abdelhak S. (2005)
C-106T polymorphism in promoter of aldose reductase gene is a risk factor for diabetic nephropathy in type 2 diabetes patients with poor glycaemic control. (PubMed id 15637423)^{1, 4, 9} Gosek K....Grzeszczak W. (2005)
The association of aldose reductase gene (AKR1B1) polymorphisms with diabetic neuropathy in adolescents. (PubMed id 16176189)^{1, 4, 9} Donaghue K.C....Bennetts B. (2005)
SEREX identification of new tumour-associated antigens in cutaneous T-cell lymphoma. (PubMed id 14996095)^{1, 2, 9} Hartmann T.B.... Eichmueller S. (2004)
Aldose reductase gene polymorphisms and susceptibility to microvascular complications in Type 2 diabetes. (PubMed id 15569136)^{1, 4, 9} Sivenius K....Uusitupa M. (2004)
Aldose reductase gene polymorphisms and peripheral nerve function in patients with type 2 diabetes. (PubMed id 15277434)^{1, 4, 9} Sivenius K....Uusitupa M. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 231	HGNC: 381	AceView: AKR1B1	Ensembl:ENSG00000085662	euGenes: HUgn231
ECgene: AKR1B1	Kegg: 231	H-InvDB: AKR1B1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for AKR1B1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for AKR1B1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for AKR1B1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for AKR1B1 gene:
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GeneCards and IP:
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AKR1B1 Gene

aldo-keto reductase family 1, member B1 (aldose reductase)

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AKR1B1 Gene

aldo-keto reductase family 1, member B1 (aldose reductase)

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