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QKI Gene

protein-coding   GIFtS: 62
GCID: GC06P163835

QKI, KH Domain Containing, RNA Binding

(Previous names: quaking homolog, KH domain RNA binding (mouse))
  See QKI-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
QKI, KH Domain Containing, RNA Binding1 2     hqkI2
Hqk2 3     Protein Quaking2
QK12 5     Quaking Homolog, KH Domain RNA Binding2
Quaking Homolog, KH Domain RNA Binding (Mouse)1     RNA Binding Protein HQK2
QK2     HKQ3
QK32     HqkI3
Homolog Of Mouse Quaking QKI (KH Domain RNA Binding Protein)2     

External Ids:    HGNC: 211001   Entrez Gene: 94442   Ensembl: ENSG000001125317   OMIM: 6095905   UniProtKB: Q96PU83   

Export aliases for QKI gene to outside databases

Previous GC identifers: GC06P163188 GC06P163709 GC06P163689 GC06P163728 GC06P163806 GC06P163755 GC06P161274


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for QKI Gene:
The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from
the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and
oligodendrocyte differentiation and may play a role in schizophrenia. Four transcript variants encoding different
isoforms have been found for this gene.(provided by RefSeq, Sep 2011)

GeneCards Summary for QKI Gene:
QKI (QKI, KH domain containing, RNA binding) is a protein-coding gene. Diseases associated with QKI include 6q terminal deletion syndrome, and schizophrenia. GO annotations related to this gene include SH3 domain binding and RNA binding. An important paralog of this gene is KHDRBS2.

UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8
Function: RNA-binding protein that plays a central role in myelinization. Binds to the 5'-NACUAAY-N(1,20)-UAAY-3'
RNA core sequence. Acts by regulating pre-mRNA splicing, mRNA export, mRNA stability and protein translation.
Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte
differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in
schizophrenia. Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in
regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity)

Gene Wiki entry for QKI Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the QKI gene promoter:
         NF-1   POU3F1   CUTL1   YY1   SRY   E2F-1   STAT3   Chx10   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidQKI promoter sequence
   Search Chromatin IP Primers for QKI

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat QKI


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q26   Ensembl cytogenetic band:  6q26   HGNC cytogenetic band: 6q26

QKI Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
QKI gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P163835:  view genomic region     (about GC identifiers)

Start:
163,835,032 bp from pter      End:
163,999,628 bp from pter
Size:
164,597 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8 (See protein sequence)
Recommended Name: Protein quaking  
Size: 341 amino acids; 37671 Da
Subunit: Homodimer. Does not require RNA to homodimerize. Able to heterodimerize with BICC1 (By similarity)
Sequence caution: Sequence=AAF63412.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=AAF63413.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAF63413.1; Type=Miscellaneous
discrepancy; Note=Cloning artifact in N-terminus; Sequence=AAF63414.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=AAF63414.1; Type=Miscellaneous discrepancy; Note=Cloning
artifact in N-terminus; Sequence=AAF63415.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA;
Sequence=AAF63416.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=AAF63417.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=AAF63417.1; Type=Miscellaneous discrepancy;
Note=Cloning artifact in N-terminus; Sequence=BAB55032.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
1 PDB 3D structure from and Proteopedia for QKI:
4JVH (3D)    
Secondary accessions: Q2I375 Q5MJQ1 Q969L9 Q96EJ3 Q96KA3 Q96PU6 Q96PU7 Q9P0X6 Q9P0X7 Q9P0X8
Q9P0X9 Q9P0Y0 Q9P0Y1
Alternative splicing: 6 isoforms:  Q96PU8-1   Q96PU8-3   Q96PU8-5   Q96PU8-6   Q96PU8-8   Q96PU8-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for QKI: NX_Q96PU8

Explore proteomics data for QKI at MOPED

Post-translational modifications: 

  • Methylated by PRMT1 (By similarity)1
  • Tyrosine phosphorylated at its C-terminus, probably by FYN. Phosphorylation leads to decreased mRNA-binding
    affinity, affecting transport and/or stabilization of MBP mRNA (By similarity)1
  • Ubiquitination2 at Lys91
  • Modification sites at PhosphoSitePlus

  • See QKI Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_006766.1  NP_996735.1  NP_996736.1  NP_996737.1  

    ENSEMBL proteins: 
     ENSP00000354951   ENSP00000408775   ENSP00000275262   ENSP00000375973   ENSP00000355094  
     ENSP00000354867   ENSP00000408382   ENSP00000437867   ENSP00000443690   ENSP00000440991  
     ENSP00000443106   ENSP00000441252   ENSP00000440599   ENSP00000441773   ENSP00000442848  

    QKI Human Recombinant Protein Products:

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    Novus Biologicals QKI Proteins
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    Cloud-Clone Corp. Proteins for QKI

     
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    QKI Antibody Products:

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    Cloud-Clone Corp. ELISAs for QKI
    Cloud-Clone Corp. CLIAs for QKI
    Search eBioscience for ELISAs for QKI 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR004087 KH_dom
     IPR004088 KH_dom_type_1

    Graphical View of Domain Structure for InterPro Entry Q96PU8

    ProtoNet protein and cluster: Q96PU8

    2 Blocks protein domains:
    IPB004087 KH domain
    IPB004088 KH


    UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8
    Similarity: Contains 1 KH domain


    Find genes that share domains with QKI           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: QKI_HUMAN, Q96PU8
    Function: RNA-binding protein that plays a central role in myelinization. Binds to the 5'-NACUAAY-N(1,20)-UAAY-3'
    RNA core sequence. Acts by regulating pre-mRNA splicing, mRNA export, mRNA stability and protein translation.
    Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte
    differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in
    schizophrenia. Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in
    regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI16189514
    GO:0017124SH3 domain binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with QKI           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Qk):
     behavior/neurological  cardiovascular system  embryogenesis  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  limbs/digits/tail  mortality/aging  nervous system 
     reproductive system 

    Find genes that share phenotypes with QKI           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for QKI
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for QKI

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for QKI
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for QKI

    miRNA
    Products:
        
    miRTarBase miRNAs that target QKI:
    hsa-mir-222-3p (MIRT046681), hsa-mir-331-3p (MIRT043303), hsa-mir-425-5p (MIRT039316), hsa-mir-100-5p (MIRT048475), hsa-mir-214-3p (MIRT006644), hsa-let-7c-5p (MIRT051872), hsa-mir-124-3p (MIRT022660), hsa-mir-652-3p (MIRT039554), hsa-let-7a-5p (MIRT052593), hsa-let-7b-5p (MIRT052209)

    Block miRNA regulation of human, mouse, rat QKI using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate QKI (see all 326):
    hsa-miR-411* hsa-miR-579 hsa-miR-146a hsa-miR-4275 hsa-miR-1243 hsa-miR-200b hsa-miR-642b hsa-miR-509-3-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat QKI

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 4): QKI (NM_006775)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for QKI
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    Addgene plasmids for QKI 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for QKI


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    QKI_HUMAN, Q96PU8: Nucleus (By similarity). Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with QKI           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for QKI About    
    See pathways by source

    SuperPathContained pathways About
    1Diurnally regulated genes with circadian orthologs
    Diurnally regulated genes with circadian orthologs


    1 BioSystems Pathway for QKI
        Diurnally regulated genes with circadian orthologs


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for QKI
    Interactions:

        Search GeneGlobe Interaction Network for QKI

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for QKI (Q96PU81, 2, 3 ENSP000003549514) via UniProtKB, MINT, STRING, and/or I2D (see all 101)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTBP1P265991, 2, 3, ENSP000003494284EBI-945792,EBI-350540 MINT-2855611 MINT-8339422 MINT-2862237 I2D: score=3 STRING: ENSP00000349428
    PCBP1Q153651, 2, 3, ENSP000003055564EBI-945792,EBI-946095 MINT-2866427 MINT-2856312 I2D: score=3 STRING: ENSP00000305556
    HCLS1P143172, 3, ENSP000003201764MINT-2859489 I2D: score=3 STRING: ENSP00000320176
    RNF138Q8WVD32, 3, ENSP000002615934MINT-2873404 I2D: score=3 STRING: ENSP00000261593
    THAP1Q9NVV92, 3, ENSP000002542504MINT-2874079 I2D: score=3 STRING: ENSP00000254250
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001570vasculogenesis IEA--
    GO:0006397mRNA processing IEA--
    GO:0006417regulation of translation IEA--
    GO:0007286spermatid development IEA--
    GO:0008366axon ensheathment ----

    Find genes that share ontologies with QKI           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for QKI



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for QKI gene (4 alternative transcripts): 
    NM_006775.2  NM_206853.2  NM_206854.2  NM_206855.2  

    Unigene Cluster for QKI:

    QKI, KH domain containing, RNA binding
    Hs.510324  [show with all ESTs]
    Unigene Representative Sequence: NM_206855
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361758 ENST00000453779 ENST00000275262 ENST00000392127 ENST00000361752(uc003qui.3 uc003que.3 uc003quf.3 uc003qug.3 uc003quj.3 uc003quh.3)
    ENST00000361195 ENST00000424802 ENST00000545607 ENST00000544436 ENST00000537041
    ENST00000537124 ENST00000545346 ENST00000544823 ENST00000537883 ENST00000540719
    ENST00000544361 ENST00000541696
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate QKI (see all 326):
    hsa-miR-411* hsa-miR-579 hsa-miR-146a hsa-miR-4275 hsa-miR-1243 hsa-miR-200b hsa-miR-642b hsa-miR-509-3-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat QKI
    Addgene plasmids for QKI 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat QKI
      QuantiTect SYBR Green Assays in human, mouse, rat QKI
      QuantiFast Probe-based Assays in human, mouse, rat QKI

    Additional mRNA sequence: 

    AB067798.1 AB067799.1 AB067800.1 AB067801.1 AF272349.1 AJ420502.1 AK027309.1 AK055085.1 
    AK074562.1 AK096701.1 AK295235.1 AK308784.1 AL050218.1 AY780788.1 BC008190.1 BC012222.1 
    BC019917.2 DQ323998.1 

    Selected DOTS entries (see all 35):

    DT.454551  DT.101973994  DT.95256589  DT.100798534  DT.121644952  DT.444196  DT.100798531  DT.206927 
    DT.212668  DT.100798536  DT.97781562  DT.426724  DT.100798532  DT.121391671  DT.92439646  DT.100798527 
    DT.121391768  DT.95137009  DT.95256562  DT.100798529  DT.91641735  DT.92439628  DT.100798528  DT.100889285 

    Selected AceView cDNA sequences (see all 580):

    AA453745 AK055085 AW236382 AW513028 NM_206853 AA984612 AI857313 AW271770 
    T34363 AI459820 F11381 H82350 AK027309 AI745294 BQ420486 BU507882 
    BU674703 AL700371 BC019917 BX952220 AW006480 CB145623 W73963 BE466275 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for QKI (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
    SP1:                    -                 -                                                     -     -     -                     
    SP2:                    -                 -                                                                                       
    SP3:                    -                 -                                   -                                                   
    SP4:                                                                          -                 -     -     -                     
    SP5:                                      -     -                                               -     -     -                     


    ECgene alternative splicing isoforms for QKI

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    QKI expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTTTGTAA
    QKI Expression
    About this image


    QKI expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Eye (Sensory Organs)
             Retina
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
    QKI Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    QKI Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.510324

    UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8
    Tissue specificity: Expressed in the frontal cortex of brain. Down-regulated in the brain of schizophrenic
    patients

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for QKI

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for QKI gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Qk1 , 5 quaking1, 5 96.38(n)1
    100(a)1
      17 (7.75 cM)5
    193171  NM_001159517.11  NP_001152989.11 
     102064715 
    chicken
    (Gallus gallus)
    Aves QKI1 QKI, KH domain containing, RNA binding 92.55(n)
    99.12(a)
      374204  NM_204310.2  NP_989641.2 
    lizard
    (Anolis carolinensis)
    Reptilia QKI6
    QKI, KH domain containing, RNA binding
    98(a)
    1 ↔ 1
    1(209990904-210137881)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.335702 Xenopus laevis transcribed sequence with weak similarity more 85.86(n)    48050720 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc658902 hypothetical protein MGC65890 76.21(n)   393815  BC061709.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta how3 RNA binding 50(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T21G5.53   -- 63(a)
    (best of 2)
      I(6887042-6891034)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSL56
    Component of the commitment complex, which defines...
    16(a)
    1 → many
    XII(380822-382252) YLR116W


    ENSEMBL Gene Tree for QKI (if available)
    TreeFam Gene Tree for QKI (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for QKI gene
    KHDRBS22  SF12  KHDRBS32  KHDRBS12  
    2 SIMAP similar genes for QKI using alignment to 9 protein entries:     QKI_HUMAN (see all proteins):
    KHDRBS3    KHDRBS2

    Find genes that share paralogs with QKI           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for QKI (see all 3265)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360514
    A colorectal cancer sample4--see VAR_0360512 R Q mis40--------
    rs41126511,2
    C,F,H--163837341(-) GCTATG/AAGAAC 4 -- int110Minor allele frequency- A:0.07NA NS EA WA 802
    rs94588221,2
    F,A,H--163837351(+) CAGTAC/TCTGAA 4 -- int15Minor allele frequency- T:0.00NS EA NA 422
    rs799054441,2
    C,F--163837441(+) CGACTG/AGCCAG 4 -- int11Minor allele frequency- A:0.15WA 118
    rs1825937761,2
    --163837587(+) TCGGGG/TAACAG 4 -- int10--------
    rs1865160391,2
    --163837638(+) AAAGGC/TCGGAA 4 -- int10--------
    rs1481526811,2
    C--163837752(+) TTTCTC/GGTCGT 4 -- int10--------
    rs1907601151,2
    --163837851(+) TTGCTC/GCAGAG 4 -- int10--------
    rs1419394341,2
    --163837910(+) GGCATA/TTGAAA 4 -- int10--------
    rs343594171,2
    C--163837948(+) ATGTC-/A/A   
       A
    /AAA
    AAAAA
    8 -- int1 cds11CSA 2

    HapMap Linkage Disequilibrium report for QKI (163835032 - 163999628 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for QKI:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675455CNV Deletion23128226
    nsv524205CNV Loss19592680
    esv26812CNV Loss19812545
    esv2750737CNV Loss17666407
    nsv523664CNV Gain19592680
    dgv2031e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): QKI
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing QKI
    DNA2.0 Custom Variant and Variant Library Synthesis for QKI

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609590    OMIM disorders: --

    2 diseases for QKI:    
    About MalaCards
    6q terminal deletion syndrome    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for QKI:
    Schizophrenia

    Find genes that share disorders with QKI           About GenesLikeMe

    Genetic Association Database (GAD): QKI
    Human Genome Epidemiology (HuGE) Navigator: QKI (1 document)

    Export disorders for QKI gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for QKI gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with QKI)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1, 2 Weimann M.... Stelzl U. (Nat. Methods 2013)
    2. No association found between the promoter variations of QKI and schizophrenia in the Chinese population. (PubMed id 18938205)1, 4 Huang K....Shi Y. (amp 2009)
    3. Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. (PubMed id 18615156)1, 4 Liu C....Gregersen P.K. (Mol. Med. 2008)
    4. Human QKI, a potential regulator of mRNA expression of human oligodendrocyte-related genes involved in schizophrenia. (PubMed id 16641098)1, 2 Aberg K.... Jazin E. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    5. Human QKI, a new candidate gene for schizophrenia involved in myelination. (PubMed id 16342280)1, 2 Aeberg K.... Jazin E. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Sam68 RNA binding protein is an in vivo substrate for protein arginine N-methyltransferase 1. (PubMed id 12529443)1, 2 Cote J.... Richard S. (Mol. Biol. Cell 2003)
    9. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    10. Expression of Hqk encoding a KH RNA binding protein is altered in human glioma. (PubMed id 11856480)1, 2 Li Z.Z.... Abe K. (Jpn. J. Cancer Res. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9444 HGNC: 21100 AceView: QKI Ensembl:ENSG00000112531 euGenes: HUgn9444
    ECgene: QKI H-InvDB: QKI

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for QKI Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for QKI gene:
    Search GeneIP for patents involving QKI

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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