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Aco1 Gene Detail
Summary
  • Symbol
    Aco1
  • Name
    aconitase 1
  • Synonyms
    Aco-1, Irebp, Irp1
  • Feature Type
    protein coding gene
  • IDs
    MGI:87879
    NCBI Gene: 11428
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:40143081-40198338 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 20.24 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    364 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_87879
protein coding gene Chr4:40143081-40199009 (.)
129S1/SvImJ MGP_129S1SvImJ_G0028140
protein coding gene Chr4:37979830-38041153 (+)
A/J MGP_AJ_G0028098
protein coding gene Chr4:36577234-36640798 (+)
AKR/J MGP_AKRJ_G0028061
protein coding gene Chr4:37465462-37521435 (+)
BALB/cJ MGP_BALBcJ_G0028110
protein coding gene Chr4:36886630-36943888 (+)
C3H/HeJ MGP_C3HHeJ_G0027838
protein coding gene Chr4:38045942-38103777 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028551
protein coding gene Chr4:39430559-39488543 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025892
protein coding gene Chr4:34270353-34328873 (+)
CAST/EiJ MGP_CASTEiJ_G0027294
protein coding gene Chr4:37712961-37774155 (+)
CBA/J MGP_CBAJ_G0027810
protein coding gene Chr4:40760840-40823135 (+)
DBA/2J MGP_DBA2J_G0027954
protein coding gene Chr4:36496052-36553085 (+)
FVB/NJ MGP_FVBNJ_G0027921
protein coding gene Chr4:35844658-35900330 (+)
LP/J MGP_LPJ_G0028062
protein coding gene Chr4:38058197-38116119 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027954
protein coding gene Chr4:44128862-44188322 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028610
protein coding gene Chr4:37596888-37653894 (+)
PWK/PhJ MGP_PWKPhJ_G0027012
protein coding gene Chr4:36479539-36536741 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026841
protein coding gene Chr4:37322656-37451347 (+)
WSB/EiJ MGP_WSBEiJ_G0027370
protein coding gene Chr4:37597738-37653992 (+)



Homology
more
  • Human Ortholog
    ACO1, aconitase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ACO1, aconitase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACONS, HEL60, IREB1, IREBP, IREBP1, IRP1
  • Links
    NCBI Gene ID: 48
    neXtProt AC: NX_P21399
    UniProt: P21399

  • Chr Location
    9p21.1; chr9:32384603-32450836 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 5 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    26 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for disruptions in this gene display no obvious phenotypic abnormalities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028405 Ensembl Gene Model | MGI Sequence Detail 55258 C57BL/6J ±  kb
    transcript ENSMUST00000102973 Ensembl | MGI Sequence Detail 3832 Not Applicable  
    polypeptide ENSMUSP00000100038 Ensembl | MGI Sequence Detail 889 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000003631 cytoplasmic aconitate hydratase
    • EC
    • InterPro Domains
      IPR001030 Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain
      IPR015931 Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3
      IPR015928 Aconitase/3-isopropylmalate dehydratase, swivel
      IPR000573 Aconitase A/isopropylmalate dehydratase small subunit, swivel domain
      IPR018136 Aconitase family, 4Fe-4S cluster binding site
      IPR006249 Aconitase/Iron-responsive element-binding protein 2
      IPR036008 Aconitase, iron-sulfur domain
      IPR029784 Iron regulatory protein 1
    Molecular
    Reagents
    less
    • All nucleic 185
      cDNA 183
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1044, MGD-MRK-1046, MGD-MRK-11463, MGI:2140214
    References
    more
    • Summaries
      All 83
      Developmental Gene Expression 10
      Gene Ontology 13
      Phenotypes 26
    • Earliest
      J:6982 Nadeau JH, et al., Conserved linkage of soluble aconitase and galactose-1-phosphate uridyl transferase in mouse and man: assignment of these genes to mouse chromosome 4. Cytogenet Cell Genet. 1982;34(4):271-81
    • Latest
      J:261174 Ghosh MC, et al., Translational repression of HIF2alpha expression in mice with Chuvash polycythemia reverses polycythemia. J Clin Invest. 2018 Apr 2;128(4):1317-1325

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory