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Gene id

231

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

AKR1B1 Gene UCSC Ensembl

Aliases

ADR, ALDR1, ALR2, AR

Gene name

aldo-keto reductase family 1 member B

Alternate names

aldose reductase, Lii5-2 CTCL tumor antigen, aldehyde reductase 1, aldo-keto reductase family 1 member B1, low Km aldose reductase,

Gene location

7q33 (134459135: 134442351) Exons: 10 NC_000007.14

Gene summary(Entrez)

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]

OMIM

103880

Protein Summary

Protein general information

P15121

Name: Aldose reductase (AR) (EC 1.1.1.21) (Aldehyde reductase) (Aldo keto reductase family 1 member B1)

Length: 316 Mass: 35,853

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

Sequence

MASRLLLNNGAKMPILGLGTWKSPPGQVTEAVKVAIDVGYRHIDCAHVYQNENEVGVAIQEKLREQVVKREELFI
VSKLWCTYHEKGLVKGACQKTLSDLKLDYLDLYLIHWPTGFKPGKEFFPLDESGNVVPSDTNILDTWAAMEELVD
EGLVKAIGISNFNHLQVEMILNKPGLKYKPAVNQIECHPYLTQEKLIQYCQSKGIVVTAYSPLGSPDRPWAKPED
PSLLEDPRIKAIAAKHNKTTAQVLIRFPMQRNLVVIPKSVTPERIAENFKVFDFELSSQDMTTLLSYNRNWRVCA
LLSCTSHKDYPFHEEF

Structural information

Interpro:	IPR018170 IPR020471 IPR023210
Prosite:	PS00798 PS00062 PS00063
Pfam:	PF00248
CDD:	cd06660
PDB:	1ABN 1ADS 1AZ1 1AZ2 1EF3 1EL3 1IEI 1MAR 1PWL 1PWM 1T40 1T41 1US0 1X96 1X97 1X98 1XGD 1Z3N 1Z89 1Z8A 2ACQ 2ACR 2ACS 2ACU 2AGT 2DUX 2DUZ 2DV0 2F2K 2FZ8 2FZ9 2FZB 2FZD 2HV5 2HVN 2HVO 2I16 2I17 2IKG 2IKH 2IKI 2IKJ 2INE 2INZ 2IPW 2IQ0 2IQD 2IS7 2ISF 2J8T 2NVC
PDBsum:	1ABN 1ADS 1AZ1 1AZ2 1EF3 1EL3 1IEI 1MAR 1PWL 1PWM 1T40 1T41 1US0 1X96 1X97 1X98 1XGD 1Z3N 1Z89 1Z8A 2ACQ 2ACR 2ACS 2ACU 2AGT 2DUX 2DUZ 2DV0 2F2K 2FZ8 2FZ9 2FZB 2FZD 2HV5 2HVN 2HVO 2I16 2I17 2IKG 2IKH 2IKI 2IKJ 2INE 2INZ 2IPW 2IQ0 2IQD 2IS7 2ISF 2J8T 2NVC
MINT:	1196717
STRING:	ENSP00000285930;

Other Databases

GeneCards: AKR1B1; Malacards: AKR1B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001894	tissue homeostasis	IEA	biological_process
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	EXP	molecular_function
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	EXP	molecular_function
GO:0004033	aldo-keto reductase (NADP ) activity	TAS	molecular_function
GO:0005615	extracellular space	IEA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005975	carbohydrate metabolic pr ocess	TAS	biological_process
GO:0006061	sorbitol biosynthetic pro cess	IEA	biological_process
GO:0006700	C21-steroid hormone biosy nthetic process	TAS	biological_process
GO:0006950	response to stress	TAS	biological_process
GO:0009055	electron carrier activity	TAS	molecular_function
GO:0009414	response to water depriva tion	IEA	biological_process
GO:0018931	naphthalene metabolic pro cess	IEA	biological_process
GO:0031098	stress-activated protein kinase signaling cascade	IEA	biological_process
GO:0032838	cell projection cytoplasm	IEA	cellular_component
GO:0033010	paranodal junction	IEA	cellular_component
GO:0042415	norepinephrine metabolic process	IEA	biological_process
GO:0042629	mast cell granule	IEA	cellular_component
GO:0043220	Schmidt-Lanterman incisur e	IEA	cellular_component
GO:0043795	glyceraldehyde oxidoreduc tase activity	IDA	molecular_function
GO:0044597	daunorubicin metabolic pr ocess	IMP	biological_process
GO:0044598	doxorubicin metabolic pro cess	IMP	biological_process
GO:0046370	fructose biosynthetic pro cess	TAS	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0060135	maternal process involved in female pregnancy	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070301	cellular response to hydr ogen peroxide	IEA	biological_process
GO:0072061	inner medullary collectin g duct development	IEA	biological_process
GO:0097066	response to thyroid hormo ne	IEA	biological_process
GO:0097238	cellular response to meth ylglyoxal	IEA	biological_process
GO:0097454	Schwann cell microvillus	IEA	cellular_component
GO:1901653	cellular response to pept ide	IEA	biological_process
GO:0001894	tissue homeostasis	IEA	biological_process
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	IEA	molecular_function
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	IEA	molecular_function
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	EXP	molecular_function
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	EXP	molecular_function
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	TAS	molecular_function
GO:0004033	aldo-keto reductase (NADP ) activity	TAS	molecular_function
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	TAS	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005975	carbohydrate metabolic pr ocess	TAS	biological_process
GO:0005996	monosaccharide metabolic process	IEA	biological_process
GO:0006061	sorbitol biosynthetic pro cess	IEA	biological_process
GO:0006700	C21-steroid hormone biosy nthetic process	TAS	biological_process
GO:0006950	response to stress	TAS	biological_process
GO:0009055	electron carrier activity	TAS	molecular_function
GO:0009414	response to water depriva tion	IEA	biological_process
GO:0010033	response to organic subst ance	IEA	biological_process
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0018931	naphthalene metabolic pro cess	IEA	biological_process
GO:0031098	stress-activated protein kinase signaling cascade	IEA	biological_process
GO:0032838	cell projection cytoplasm	IEA	cellular_component
GO:0033010	paranodal junction	IEA	cellular_component
GO:0042415	norepinephrine metabolic process	IEA	biological_process
GO:0042629	mast cell granule	IEA	cellular_component
GO:0043220	Schmidt-Lanterman incisur e	IEA	cellular_component
GO:0043795	glyceraldehyde oxidoreduc tase activity	IDA	molecular_function
GO:0044597	daunorubicin metabolic pr ocess	IMP	biological_process
GO:0044598	doxorubicin metabolic pro cess	IMP	biological_process
GO:0046370	fructose biosynthetic pro cess	TAS	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0060135	maternal process involved in female pregnancy	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070301	cellular response to hydr ogen peroxide	IEA	biological_process
GO:0072061	inner medullary collectin g duct development	IEA	biological_process
GO:0097066	response to thyroid hormo ne	IEA	biological_process
GO:0097238	cellular response to meth ylglyoxal	IEA	biological_process
GO:0097454	Schwann cell microvillus	IEA	cellular_component
GO:1901653	cellular response to pept ide	IEA	biological_process
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	EXP	molecular_function
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	EXP	molecular_function
GO:0004032	alditol:NADP+ 1-oxidoredu ctase activity	TAS	molecular_function
GO:0004033	aldo-keto reductase (NADP ) activity	TAS	molecular_function
GO:0005615	extracellular space	TAS	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005975	carbohydrate metabolic pr ocess	TAS	biological_process
GO:0006700	C21-steroid hormone biosy nthetic process	TAS	biological_process
GO:0006950	response to stress	TAS	biological_process
GO:0009055	electron carrier activity	TAS	molecular_function
GO:0043795	glyceraldehyde oxidoreduc tase activity	IDA	molecular_function
GO:0044597	daunorubicin metabolic pr ocess	IMP	biological_process
GO:0044598	doxorubicin metabolic pro cess	IMP	biological_process
GO:0046370	fructose biosynthetic pro cess	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

KEGG pathways

hsa01100  Metabolic pathways
hsa00052  Galactose metabolism
hsa00561  Glycerolipid metabolism
hsa00040  Pentose and glucuronate interconversions
hsa00051  Fructose and mannose metabolism

Diseases

Associated diseases	References
Diabetes	PMID: 15277434
Diabetic stroke	PMID: 16911628
Endometriosis	PMID: 25446850
Glomerulonephritis	PMID: 19420105
Glomerulopathy	PMID: 15504980
Heart disease	PMID: 16911628
Hypospadias	PMID: 16174723
Ischemic macroangiopathy	PMID: 16911628
Nephropathy	PMID: 15637423
Neuropathy	PMID: 16176189
Retinopathy	PMID: 11449315
Endometriosis	INFBASE25446850

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25446850	Endometrio sis			57 (29 patients with ovarian endometriosis, 28 control heal thy women)	Female infertility	PGF2A AKR1B1 AKR1C3 PLA2G2A PTGS2/COX-2 ABCC4 and PTGFR PLA2G4A and HPGD	Show abstract