Format

Send to:

Choose Destination

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

Gene ID: 231, updated on 14-Aug-2021

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
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See AKR1B1 in Genome Data Viewer
Location:
7q33
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (134442350..134459239, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (134127102..134143991, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375518 Neighboring gene uncharacterized LOC105375517 Neighboring gene uncharacterized LOC105375519 Neighboring gene endogenous retrovirus group 3 member 1 pseudogene Neighboring gene aldo-keto reductase family 1 member B10

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1804

Gene Ontology Provided by GOA

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 cellular response to methylglyoxal IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to peptide IEA
Inferred from Electronic Annotation
more info
 
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 electron transport chain IEA
Inferred from Electronic Annotation
more info
 
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 inner medullary collecting duct development IEA
Inferred from Electronic Annotation
more info
 
involved_in maternal process involved in female pregnancy IEA
Inferred from Electronic Annotation
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 norepinephrine metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of receptor signaling pathway via JAK-STAT IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of smooth muscle cell proliferation 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 response to thyroid hormone IEA
Inferred from Electronic Annotation
more info
 
involved_in response to water deprivation 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
 
involved_in sorbitol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in stress-activated protein kinase signaling cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in tissue homeostasis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Schmidt-Lanterman incisure IEA
Inferred from Electronic Annotation
more info
 
located_in Schwann cell microvillus IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular space TAS
Traceable Author Statement
more info
PubMed 
located_in mast cell granule IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in paranodal junction IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane bounded cell projection cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
NP_001619.1
XP_005250291.1
XP_024302463.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001346142.1NP_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:1172
    AKR_SF; Aldo-keto reductase (AKR) superfamily
  2. NM_001628.4NP_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
    P15121
    UniProtKB/TrEMBL
    A0A024R7A8
    Related
    ENSP00000285930.3, ENST00000285930.9
    Conserved Domains (1) summary
    cd19107
    Location:10316
    AKR_AKR1B1-19; AKR1B family of aldo-keto reductase (AKR)

RNA

  1. NR_144376.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA599612, AB209796, DA495087
    Related
    ENST00000465351.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    134442350..134459239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446695.1XP_024302463.1  aldo-keto reductase family 1 member B1 isoform X1

    Conserved Domains (1) summary
    cl00470
    Location:1172
    AKR_SF; Aldo-keto reductase (AKR) superfamily
  2. XM_005250234.3XP_005250291.1  aldo-keto reductase family 1 member B1 isoform X1

    Conserved Domains (1) summary
    cl00470
    Location:1172
    AKR_SF; Aldo-keto reductase (AKR) superfamily
Support Center