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

Gene ID: 231, updated on 3-Jun-2018
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; Vega:OTTHUMG00000155322
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
See AKR1B1 in Genome Data Viewer
Location:
7q33
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (134442350..134459239, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (134127107..134143888, 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC1804

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alcohol dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alditol:NADP+ 1-oxidoreductase activity EXP
Inferred from Experiment
more info
PubMed 
alditol:NADP+ 1-oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alditol:NADP+ 1-oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
glyceraldehyde oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
C21-steroid hormone biosynthetic process TAS
Traceable Author Statement
more info
 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
cellular hyperosmotic salinity response IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to methylglyoxal IEA
Inferred from Electronic Annotation
more info
 
cellular response to peptide IEA
Inferred from Electronic Annotation
more info
 
daunorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
doxorubicin metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
fructose biosynthetic process TAS
Traceable Author Statement
more info
 
inner medullary collecting duct development IEA
Inferred from Electronic Annotation
more info
 
maternal process involved in female pregnancy IEA
Inferred from Electronic Annotation
more info
 
naphthalene metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
norepinephrine metabolic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of JAK-STAT cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of urine volume IEA
Inferred from Electronic Annotation
more info
 
renal water homeostasis IEA
Inferred from Electronic Annotation
more info
 
response to thyroid hormone IEA
Inferred from Electronic Annotation
more info
 
response to water deprivation IEA
Inferred from Electronic Annotation
more info
 
sorbitol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
stress-activated protein kinase signaling cascade IEA
Inferred from Electronic Annotation
more info
 
tissue homeostasis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Schmidt-Lanterman incisure IEA
Inferred from Electronic Annotation
more info
 
Schwann cell microvillus IEA
Inferred from Electronic Annotation
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular space TAS
Traceable Author Statement
more info
PubMed 
mast cell granule IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
paranodal junction IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane bounded cell projection cytoplasm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
aldose reductase
Names
Lii5-2 CTCL tumor antigen
aldehyde reductase 1
aldo-keto reductase family 1 member B1
low Km aldose reductase
NP_001333071.1
NP_001619.1
XP_005250291.1
XP_024302463.1

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  aldose reductase 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
    COG0656
    Location:1153
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
  2. NM_001628.3NP_001619.1  aldose reductase 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)
    AA599612, BC000260, DA495087
    Consensus CDS
    CCDS5831.1
    UniProtKB/Swiss-Prot
    P15121
    UniProtKB/TrEMBL
    A0A024R7A8
    Related
    ENSP00000285930.3, OTTHUMP00000207727, ENST00000285930.8, OTTHUMT00000339448
    Conserved Domains (1) summary
    COG0656
    Location:1297
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]

RNA

  1. NR_144376.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA599612, AB209796, AC078847, DA495087
    Related
    ENST00000465351.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024446695.1XP_024302463.1  aldose reductase isoform X1

    Conserved Domains (1) summary
    COG0656
    Location:1153
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
  2. XM_005250234.3XP_005250291.1  aldose reductase isoform X1

    Conserved Domains (1) summary
    COG0656
    Location:1153
    ARA1; Aldo/keto reductase, related to diketogulonate reductase [Secondary metabolites biosynthesis, transport and catabolism]
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