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Akr1b1 Gene Detail
Summary
  • Symbol
    Akr1b1
  • Name
    aldo-keto reductase family 1 member B
  • Synonyms
    Ahr-1, Ahr1, Akr1b3, Aldor1, Aldr1, ALR2, AR
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353494
    NCBI Gene: 11677
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:34280865-34294424 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 14.87 cM, cytoband B1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    426 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1353494
 protein coding gene Chr6:34279369-34294424 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030556
 protein coding gene Chr6:32372657-32387492 (-)
A/J MGP_AJ_G0030529
 protein coding gene Chr6:30996092-31011132 (-)
AKR/J MGP_AKRJ_G0030456
 protein coding gene Chr6:32035343-32050651 (-)
BALB/cJ MGP_BALBcJ_G0030539
 protein coding gene Chr6:31177748-31192788 (-)
C3H/HeJ MGP_C3HHeJ_G0030252
 protein coding gene Chr6:31997625-32012665 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030993
 protein coding gene Chr6:33185080-33200669 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028204
 protein coding gene Chr6:29087685-29102706 (-)
CAST/EiJ MGP_CASTEiJ_G0029654
 protein coding gene Chr6:31792984-31831262 (-)
CBA/J MGP_CBAJ_G0030230
 protein coding gene Chr6:34461052-34479668 (-)
DBA/2J MGP_DBA2J_G0030374
 protein coding gene Chr6:30871135-30886580 (-)
FVB/NJ MGP_FVBNJ_G0030328
 protein coding gene Chr6:30658544-30675673 (-)
LP/J MGP_LPJ_G0030461
 protein coding gene Chr6:32495839-32511203 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030364
 protein coding gene Chr6:36815330-36832705 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031023
 protein coding gene Chr6:31918901-31934795 (-)
PWK/PhJ MGP_PWKPhJ_G0029368
 protein coding gene Chr6:30482068-30497679 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029204
 protein coding gene Chr6:31561838-31579190 (-)
WSB/EiJ MGP_WSBEiJ_G0029730
 protein coding gene Chr6:31834706-31852818 (-)



Homology
more
  • Human Ortholog
    AKR1B1, aldo-keto reductase family 1 member B
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AKR1B1, aldo-keto reductase family 1 member B
  • Synonyms
    ADR, ALDR1, ALR2, AR
  • Links
    NCBI Gene ID: 231
    neXtProt AC: NX_P15121
    UniProt: P15121

  • Chr Location
    7q33; chr7:134442350-134459284 (-)  GRCh38
Human Diseases
more
  • Diseases
    5 with human AKR1B1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 3 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    35 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in increased drinking, increased urination, and dilation of the renal tubules.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    57
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    825
  • Tissues
    117
  • cDNA Data
    17
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11677 NCBI Gene Model | MGI Sequence Detail 13560 C57BL/6J ±  kb
    transcript NM_009658 RefSeq | MGI Sequence Detail 1402 ZRU/MplStud  
    polypeptide P45376 UniProt | EBI | MGI Sequence Detail 316 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      Genomic 7
      cDNA 18

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-1225, MGD-MRK-1229, MGD-MRK-29060, MGI:104906, MGI:1329017, MGI:7469661
    References
    more
    • Summaries
      All 96
      Developmental Gene Expression 10
      Gene Ontology 13
      Phenotypes 35
    • Earliest
      J:7000 Duley JA, et al., Biochemical genetics of aldehyde reductase in the mouse: Ahr-1--a new locus linked to the alcohol dehydrogenase gene complex on chromosome 3. Biochem Genet. 1982 Dec;20(11-12):1067-83
    • Latest
      J:349827 Yu PC, et al., SMARCA5 reprograms AKR1B1-mediated fructose metabolism to control leukemogenesis. Dev Cell. 2024 May 17;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory