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Symbol QKI contributors: mct - updated : 08-06-2016
HGNC name quaking homolog, KH domain RNA binding (mouse)
HGNC id 21100
Location 6q26      Physical location : 163.835.674 - 163.999.627
Synonym name
  • RNA binding protein HQK
  • protein quaking
  • Synonym symbol(s) QK3, QK, DKFZp586I0923, Hqk, QK1
    TYPE functioning gene
    STRUCTURE 153.95 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    SLC22A2 6q26-q27 solute carrier family 22 (organic cation transporter), member 2 SLC22A3 6q26-q27 solute carrier family 22 (extraneuronal monoamine transporter), member 3 APOAL 6q26-q27 apolipoprotein A-like LPA 6q26-q27 lipoprotein, Lp(a) PLG 6q26 plasminogen LOC389446 6 similar to apolipoprotein(a) (EC 3.4.21.-) - rhesus macaque (fragment) LOC389447 6 LOC389447 MAP3K4 6q25.3 mitogen-activated protein kinase kinase kinase 4 AGPAT4 6q25.3 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) C6orf59 6q25.3 chromosome 6 open reading frame 59 PARK2 6q25.2-q27 Parkinson disease (autosomal recessive, juvenile) 2, parkin PACRG 6q26 PARK2 co-regulated QKI 6q26-27 quaking homolog, KH domain RNA binding (mouse) LOC391985 6 similar to [Ascaris lumbricoides mRNA sequence.], gene product C6orf118 6q27 chromosome 6 open reading frame 118 PDE10A 6q26 phosphodiesterase 10A LOC346085 6q27 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) T 6q27 T, brachyury homolog (mouse) MGC35308 6q27 hypothetical protein MGC35308 C6orf83 6q27 chromosome 6 open reading frame 83 BRP44L 6q27 brain protein 44-like
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 4731 - 341 expressed in oligodendroglia progenitor cells prior to the initiation of myelin formation (PMID: 17575274) 2002 11917126
  • also called isoform HQK-5, and QKI-5
  • regulates alternative splicing of the MAG (myelin associated glycoprotein) message and probably other myelin genes
  • implicated in promoting oligodendrocyte lineage development (PMID: 17575274)
  • underexpression of tumour suppressor QKI-5 could activate the MAPK pathway and contribute to uncontrolled CCND1 expression, thus resulting in increased proliferation of oral cancer cells
  • 7 - 5693 - 319 expressed in oligodendroglia progenitor cells prior to the initiation of myelin formation (PMID: 17575274) 2002 11917126
  • isoform HQK-6 and QKI-6
  • a distinct 3'UTR and coding region leading to a shorter and distinct C-terminus
  • implicated in promoting oligodendrocyte lineage development (PMID: 17575274)
  • positive regulators of PNS myelination and play a key role in Schwann cell differentiation and myelination (PMID: 19517016)
  • selectively associates with the mRNA that encodes HNRNPA1, and controls translation of the splicing factor HNRNPA1 to govern alternative splicing in CNS myelination (PMID: 20956316)
  • 7 - 6972 - 325 expressed in oligodendroglia progenitor cells prior to the initiation of myelin formation (PMID: 17575274) 2002 11917126
  • isoform HQK-7 and QKI-7, cytoplasmic
  • implicated in promoting oligodendrocyte lineage development (PMID: 17575274)
  • positive regulators of PNS myelination and play a key role in Schwann cell differentiation and myelination (PMID: 19517016)
  • specifically promotes polyadenylation and translation of three natural target mRNAs (HNRNPA1, CDKN1B and CTNNB1) in a manner that is dependent on the QKI response element, and recruits PAPD4 to regulate post-transcriptional polyadenylation of target mRNAs (PMID: 26926106)
  • 6 - 7919 - 319 expressed in oligodendroglia progenitor cells prior to the initiation of myelin formation (PMID: 17575274) 2002 11917126
    isoform HQK-7B, and QKI-7b
    8 - 9455 - 333 - -
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Lymphoid/Immunethymus   highly
    Nervousbrainforebraincerebral cortexfrontal cortexpredominantly
    Visualeyeretina    Mus musculusAdult
     eyeretina    Mus musculusFetal
    SystemCellPubmedSpeciesStageRna symbol
    Nervousoligodendrocyte Homo sapiens
    VisualMuller cell Mus musculusAdult
    VisualMuller cell Mus musculusFetal
    cell lineage
    cell lines
    at STAGE
  • a STAR (signal transduction and activation of RNA) domain, composed of Qua1, K homology (KH), and Qua2 motifs
  • conjugated PhosphoP , Other
    mono polymer homomer , heteromer , dimer
    interspecies homolog to murine Qk (100.0pc)
    homolog to Caenorhabditis elegans Gld-1
    homolog to rattus Qk (99.4pc)
  • RNA-binding proteins family
  • STAR family of KH domain-containing RNA-binding proteins
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • essential role in blood vessel development during embryonic development
  • may be involved in neural development and myelination
  • may regulate oligodendrocyte differentiation and maturation in brain
  • regulating nuclear export of MBP mRNA
  • regulating mRNA splicing of MAG pre-mRNA
  • acting as a translational repressor
  • required to protect and promote stability of mRNAs such as MBP or CDKN1B
  • selective RNA-binding protein essential for myelination of the central nervous system
  • involved in RNAs splicing, export of target RNAs from the nucleus, translation of proteins and RNA stability (Lauriat 2008)
  • its isoforms are necessary and sufficient for promoting oligodendroglia progenitor cells (OPCs) development, which must involve direct influence of QKI on differentiation/maturation of OPCs independent of cell cycle exit
  • role of the QKI proteins in peripheral nervous system myelination
  • inhibits the cell proliferation and promotes the differentiation of gastrointestinal epithelium, suggesting a role of QKI in cell cycle regulation
  • is likely a hub regulator of glia function in humans
  • QKI is a global regulator of splicing during muscle development in vertebrates
  • is essential for embryonic blood vessel development
  • is a central regulator of VSMC phenotypic plasticity
  • is a critical regulator of splicing in lung cancer, suggesting a novel tumor suppression mechanism involving QKI-mediated regulation of the NOTCH signaling pathway
  • plays important roles in controlling alternative splicing (AS)
  • promotes polyadenylation when tethered to a reporter mRNA
  • central role for QKI in posttranscriptionally guiding macrophage identity and function
  • new role for QKI in myelin and axoglial junction maintenance
  • functions in pre-mRNA splicing, microRNA regulation, and formation of circular RNA
  • plays critical roles in myelinogenesis in the central and peripheral nervous systems and has been implicated neuron-glia fate decision in the brain
  • may contribute to maintaining retinal progenitors prior to differentiation into neurons
  • may function in retinal cell fate determination and maturation in both glia and neurons
    a component
  • homodimer also able to heterodimerize with BICC1
    RNA binding to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA sequence
    small molecule
  • E2F1 directly transcribes QKI, which, in turn, negatively regulates the cell cycle by targeting multiple cell cycle regulators, forming an E2F1-QKI-pRb/E2F1 negative feedback loop
  • regulates the alternative splicing of H2AFY pre-mRNA, resulting in increased levels of macroH2A1.1
  • in committed macrophage progenitors, CEBPA-activated QKI negatively regulates macrophage differentiation by down-regulating CSF1R expression, forming a negative feedback loop during macrophage differentiation
  • QKI promotes inclusion of CAPZB exon 9 in opposition to repression by polypyrimidine tract-binding protein (PTB)
  • regulates NFASC155 expression for myelin and axoglial junction maintenance
  • cell & other
    Other methylated by PRMT1
    phosphorylated, leading to decreased mRNA-binding affinity, affecting transport and/or stabilization of MBP RNA
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    NTRK2 is a new gene fusion target in pilocytic astrocytoma (fusion with QKI, FGFR1)
    tumoral     --low  
    in most of the gastric cancer tissues, which was largely due to promoter hypermethylation
    tumoral     --low  
    expression is significantly reduced in many of the same cancer types that demonstrate a reduction in H2AFY splicing
    Susceptibility to schizophrenia
    Variant & Polymorphism other leading to disrupted relative expression of QKI7B and to down-regulation of myelin-related genes in schizophrenia
    Candidate gene
    Therapy target
    QKI is a therapeutic target for Gastric cancer
  • quakingviable (qk(v)) mutant mice carry deficiencies of all QKI isoforms in oligodendrocytes (OLs) and Schwann cells (SWCs), the myelinating glia of central and peripheral nervous system (CNS and PNS), respectively, resulting in severe dysregulation of alternative splicing (AS)