AKR1B1 aldo-keto reductase family 1 member B [Homo sapiens (human)] - Gene

Summary

Official Symbol: AKR1B1provided by HGNC
Official Full Name: aldo-keto reductase family 1 member Bprovided by HGNC
Primary source: HGNC:HGNC:381
See related: Ensembl:ENSG00000085662 MIM:103880; AllianceGenome:HGNC:381
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AR; ADR; ALR2; ALDR1
Summary: 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]
Expression: Biased expression in adrenal (RPKM 1087.3), placenta (RPKM 120.6) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q33

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (134442350..134459239, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (135750388..135767276, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (134127102..134143991, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SMARCA5 reprograms AKR1B1-mediated fructose metabolism to control leukemogenesis.
Title: SMARCA5 reprograms AKR1B1-mediated fructose metabolism to control leukemogenesis.
Aldose reductase is a potential therapeutic target for neurodegeneration.
Title: Aldose reductase is a potential therapeutic target for neurodegeneration.
Bioinformatics Analysis Reveals the Vital Role of AKR1B1 in Immune Infiltration and Clinical Outcomes of Gastric Cancer.
Title: Bioinformatics Analysis Reveals the Vital Role of AKR1B1 in Immune Infiltration and Clinical Outcomes of Gastric Cancer.
LINC00978 regulates metabolic rewiring to promote the malignancy of glioblastoma through AKR1B1.
Title: LINC00978 regulates metabolic rewiring to promote the malignancy of glioblastoma through AKR1B1.
Aldose reductase gene polymorphism rs752010122 and retinopathy in type 2 diabetics.
Title: Aldose reductase gene polymorphism rs752010122 and retinopathy in type 2 diabetics.
Aldose reductase and cancer metabolism: The master regulator in the limelight.
Title: Aldose reductase and cancer metabolism: The master regulator in the limelight.
Association of candidate genes (ALR2, RAGE, and VEGF) polymorphisms with diabetic retinopathy in type 2 diabetic patients of Khyber Pakhtunkhwa, Pakistan.
Title: Association of candidate genes (ALR2, RAGE, and VEGF) polymorphisms with diabetic retinopathy in type 2 diabetic patients of Khyber Pakhtunkhwa, Pakistan.
Identification of missense SNP-mediated mutations in the regulatory sites of aldose reductase (ALR2) responsible for treatment failure in diabetic complications.
Title: Identification of missense SNP-mediated mutations in the regulatory sites of aldose reductase (ALR2) responsible for treatment failure in diabetic complications.
The A allele of the rs759853 single nucleotide polymorphism in the AKR1B1 gene confers risk for diabetic kidney disease in patients with type 2 diabetes from a Brazilian population.
Title: The A allele of the rs759853 single nucleotide polymorphism in the AKR1B1 gene confers risk for diabetic kidney disease in patients with type 2 diabetes from a Brazilian population.
Homozygosity of the Z-2 polymorphic variant in the aldose reductase gene promoter confers increased risk for neuropathy in children and adolescents with Type 1 diabetes.
Title: Homozygosity of the Z-2 polymorphic variant in the aldose reductase gene promoter confers increased risk for neuropathy in children and adolescents with Type 1 diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (114)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

WI-18828 (e-PCR)
- UniSTS:63334

D1S1425 (e-PCR)
- UniSTS:149621

J05017 (e-PCR)
- UniSTS:19844

D11S3114 (e-PCR)
- UniSTS:152207

GDB:4585363 (e-PCR)
- UniSTS:50616

ALDR1 (e-PCR)
- UniSTS:57830

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-glucuronate reductase activity	IEA Inferred from Electronic Annotation more info
enables aldose reductase (NADPH) activity	EXP Inferred from Experiment more info	PubMed
enables aldose reductase (NADPH) activity	IBA Inferred from Biological aspect of Ancestor more info
enables aldose reductase (NADPH) activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans-retinol dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables allyl-alcohol dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables electron transfer activity	TAS Traceable Author Statement more info	PubMed
enables glyceraldehyde oxidoreductase activity	IDA Inferred from Direct Assay more info	PubMed
enables glycerol dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables prostaglandin H2 endoperoxidase reductase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables retinal dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in C21-steroid hormone biosynthetic process	TAS Traceable Author Statement more info
involved_in carbohydrate metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in cellular hyperosmotic salinity response	IDA Inferred from Direct Assay more info	PubMed
involved_in daunorubicin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in doxorubicin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cell maturation	IEA Inferred from Electronic Annotation more info
involved_in fructose biosynthetic process	TAS Traceable Author Statement more info
involved_in metanephric collecting duct development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in prostaglandin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of urine volume	IEA Inferred from Electronic Annotation more info
involved_in renal water homeostasis	IEA Inferred from Electronic Annotation more info
involved_in retinoid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	TAS Traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: aldo-keto reductase family 1 member B1

Names: Lii5-2 CTCL tumor antigen; aldehyde reductase 1; aldose reductase; low Km aldose reductase

NP_001333071.1

EC 1.1.1.21

EC 1.1.1.300

EC 1.1.1.372

EC 1.1.1.54

NP_001619.1

EC 1.1.1.21

EC 1.1.1.300

EC 1.1.1.372

EC 1.1.1.54

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001346142.1 → NP_001333071.1 aldo-keto reductase family 1 member B1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 5' most exon and lacks the start codon used in variant 1. These differences result in the use of a downstream AUG compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AA599612, AC078847

Conserved Domains (1) summary

cl00470
Location:1 → 172

AKR_SF; Aldo-keto reductase (AKR) superfamily
NM_001628.4 → NP_001619.1 aldo-keto reductase family 1 member B1 isoform 1

See identical proteins and their annotated locations for NP_001619.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

BC000260

Consensus CDS

CCDS5831.1

UniProtKB/Swiss-Prot

B2R8N3, P15121, Q5U031, Q6FGA4, Q6ICP2, Q9BS21, Q9UCI9

Related

ENSP00000285930.3, ENST00000285930.9

Conserved Domains (1) summary

cd19107
Location:10 → 316

AKR_AKR1B1-19; AKR1B family of aldo-keto reductase (AKR)