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Qki Gene Detail
Summary
  • Symbol
    Qki
  • Name
    quaking, KH domain containing RNA binding
  • Synonyms
    1110003F05Rik, l(17)-1Wis, l17Wis1, Qk, QkI
  • Feature Type
    protein coding gene
  • IDs
    MGI:97837
    NCBI Gene: 19317
  • Alliance
    gene page
  • Transcription Start Sites
    29 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:10425480-10538706 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 7.75 cM
  • Mapping Data
    23 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1547 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97837
 protein coding gene Chr17:10421530-10538783 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023140
 protein coding gene Chr17:7779518-7907397 (-)
A/J MGP_AJ_G0023108
 protein coding gene Chr17:7700460-7815071 (-)
AKR/J MGP_AKRJ_G0023072
 protein coding gene Chr17:7435173-7552497 (-)
BALB/cJ MGP_BALBcJ_G0023108
 protein coding gene Chr17:7487982-7567784 (-)
C3H/HeJ MGP_C3HHeJ_G0022871
 protein coding gene Chr17:7723634-7846516 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023551
 protein coding gene Chr17:8094337-8213257 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021057
 protein coding gene Chr17:6600656-6709475 (+)
CAST/EiJ MGP_CASTEiJ_G0022385
 protein coding gene Chr17:7737805-7856412 (-)
CBA/J MGP_CBAJ_G0022843
 protein coding gene Chr17:8397874-8528204 (-)
DBA/2J MGP_DBA2J_G0022976
 protein coding gene Chr17:7343790-7457506 (-)
FVB/NJ MGP_FVBNJ_G0022946
 protein coding gene Chr17:7293919-7371788 (-)
LP/J MGP_LPJ_G0023048
 protein coding gene Chr17:7572111-7693688 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022965
 protein coding gene Chr17:8056418-8203017 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023577
 protein coding gene Chr17:7738569-7853335 (-)
PWK/PhJ MGP_PWKPhJ_G0022133
 protein coding gene Chr17:7032699-7145220 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021963
 protein coding gene Chr17:7092775-7208570 (-)
WSB/EiJ MGP_WSBEiJ_G0022442
 protein coding gene Chr17:8045374-8162246 (-)



Homology
more
  • Human Ortholog
    QKI, QKI, KH domain containing RNA binding
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    QKI, QKI, KH domain containing RNA binding
  • Synonyms
    Hqk, hqkI, QK, QK1, QK3
  • Links
    NCBI Gene ID: 9444
    neXtProt AC: NX_Q96PU8
    UniProt: Q96PU8

  • Chr Location
    6q26; chr6:163414000-163578592 (+)  GRCh38
Human Diseases
less
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    56 phenotypes from 8 alleles in 11 genetic backgrounds
    26 phenotypes from multigenic genotypes
    3 images
    490 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.
Knock-out mice die in utero with defects in embryo turning, blood vessel, smooth muscle, cardiac and neural tube development. Homozygotes for a spontaneous allele are viable but show myelin, spermatogenic and behavioral defects, hind leg tremors and seizures. Most ENU-induced mutants die in utero.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    79
  • GO References
    32
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
    1220
  • Tissues
    114
  • cDNA Data
    29
  • Literature Summary
    22
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19317 NCBI Gene Model | MGI Sequence Detail 113227 C57BL/6J ±  kb
    transcript NM_021881 RefSeq | MGI Sequence Detail 6658 ZRU/MplStud  
    polypeptide Q9QYS9 UniProt | EBI | MGI Sequence Detail 341 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000013564 KH domain-containing RNA-binding protein QKI
      (term hierarchy)
    • PDB
      4DNN
    • InterPro Domains
      IPR045071 KH domain-containing BBP-like
      IPR004087 K Homology domain
      IPR004088 K Homology domain, type 1
      IPR036612 K Homology domain, type 1 superfamily
      IPR032367 Protein quaking, putative nuclear localisation signal
      IPR032377 STAR protein, homodimerisation region
    • GlyGen
      Q9QYS9 4 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 46
      Genomic 9
      cDNA 30
      Primer pair 5
      Other 2

      Microarray probesets 14
    Other
    Accession IDs
    less
    MGD-MRK-11678, MGD-MRK-11696, MGD-MRK-13738, MGI:1913395, MGI:7256376, MGI:96711
    References
    more
    • Summaries
      All 569
      Developmental Gene Expression 22
      Diseases 6
      Gene Ontology 32
      Phenotypes 490
    • Earliest
      J:13141 SIDMAN RL, et al., MUTANT MICE (QUAKING AND JIMPY) WITH DEFICIENT MYELINATION IN THE CENTRAL NERVOUS SYSTEM. Science. 1964 Apr 17;144:309-11
    • Latest
      J:354984 Emili M, et al., Reversal of neurodevelopmental impairment and cognitive enhancement by pharmacological intervention with the polyphenol polydatin in a Down syndrome model. Neuropharmacology. 2024 Sep 27;261:110170
    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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    11/19/2024
    MGI 6.24     		The Jackson Laboratory