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Aak1 Gene Detail
Summary
  • Symbol
    Aak1
  • Name
    AP2 associated kinase 1
  • Synonyms
    5530400K14Rik, D6Ertd245e, MGC:40785, mKIAA1048
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098687
    NCBI Gene: 269774
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:86826499-86980205 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 37.75 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1087 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1098687
 protein coding gene Chr6:86826252-86980209 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030984
 protein coding gene Chr6:88175997-88337757 (+)
A/J MGP_AJ_G0030950
 protein coding gene Chr6:84760587-84915917 (+)
AKR/J MGP_AKRJ_G0030881
 protein coding gene Chr6:87223786-87382965 (+)
BALB/cJ MGP_BALBcJ_G0030963
 protein coding gene Chr6:84770591-84926539 (+)
C3H/HeJ MGP_C3HHeJ_G0030747
 protein coding gene Chr6:97094619-97248090 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031420
 protein coding gene Chr6:90555887-90721261 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028604
 protein coding gene Chr6:82942916-83096921 (+)
CAST/EiJ MGP_CASTEiJ_G0030072
 protein coding gene Chr6:87285975-87446492 (+)
CBA/J MGP_CBAJ_G0030647
 protein coding gene Chr6:94124404-94280743 (+)
DBA/2J MGP_DBA2J_G0030803
 protein coding gene Chr6:84076529-84231936 (+)
FVB/NJ MGP_FVBNJ_G0030756
 protein coding gene Chr6:83258842-83413479 (+)
LP/J MGP_LPJ_G0030880
 protein coding gene Chr6:88199900-88358085 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030789
 protein coding gene Chr6:98221743-98383469 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031447
 protein coding gene Chr6:87053601-87217899 (+)
PWK/PhJ MGP_PWKPhJ_G0029787
 protein coding gene Chr6:83031305-83188647 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029615
 protein coding gene Chr6:85887785-86049294 (+)
WSB/EiJ MGP_WSBEiJ_G0030153
 protein coding gene Chr6:87523082-87682829 (+)



Homology
more
  • Human Ortholog
    AAK1, AP2 associated kinase 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AAK1, AP2 associated kinase 1
  • Links
    NCBI Gene ID: 22848
    neXtProt AC: NX_Q2M2I8
    UniProt: Q2M2I8

  • Chr Location
    2p13.3; chr2:69457997-69674349 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 1 allele in 1 genetic background
    15 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    43
  • GO References
    9
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
non-membrane-bounded 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
    752
  • Tissues
    15
  • cDNA Data
    21
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000057230 Ensembl Gene Model | MGI Sequence Detail 153707 C57BL/6J ±  kb
    transcript ENSMUST00000089519 Ensembl | MGI Sequence Detail 19341 Not Applicable  
    polypeptide ENSMUSP00000086948 Ensembl | MGI Sequence Detail 959 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 22
      Primer pair 1

      Microarray probesets 16
    Other
    Accession IDs
    less
    MGI:1925924, MGI:2141600, MGI:2141601, MGI:2141755, MGI:2141797, MGI:2679265
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 2
      Gene Ontology 9
      Phenotypes 15
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:330636 Iwata S, et al., An efficient i-GONAD method for creating and maintaining lethal mutant mice using an inversion balancer identified from the C3H/HeJJcl strain. G3 (Bethesda). 2021;11(8)
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory