Human Gene QKI (uc003qui.3)
  Description: Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.
RefSeq Summary (NM_006775): 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014].
Transcript (Including UTRs)
   Position: hg19 chr6:163,835,675-163,999,628 Size: 163,954 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr6:163,836,226-163,991,742 Size: 155,517 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr6:163,835,675-163,999,628)mRNA (may differ from genome)Protein (341 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSCGAPEnsemblEntrez GeneExonPrimer

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Protein quaking; Short=Hqk; Short=HqkI;
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).
SUBUNIT: Homodimer. Does not require RNA to homodimerize. Able to heterodimerize with BICC1 (By similarity).
INTERACTION: P61978:HNRNPK; NbExp=3; IntAct=EBI-945792, EBI-304185; Q15365:PCBP1; NbExp=2; IntAct=EBI-945792, EBI-946095; P26599:PTBP1; NbExp=2; IntAct=EBI-945792, EBI-350540; Q9NWB1:RBFOX1; NbExp=2; IntAct=EBI-945792, EBI-945906; O43251:RBFOX2; NbExp=2; IntAct=EBI-945792, EBI-746056; Q93062:RBPMS; NbExp=2; IntAct=EBI-945792, EBI-740322;
SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm (By similarity).
TISSUE SPECIFICITY: Expressed in the frontal cortex of brain. Down-regulated in the brain of schizophrenic patients.
PTM: Methylated by PRMT1 (By similarity).
PTM: 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).
SIMILARITY: Contains 1 KH domain.
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;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): QKI
CDC HuGE Published Literature: QKI
Positive Disease Associations: Aorta , Arteries , Arthritis, Rheumatoid , Body Fat Distribution , Body Height , Body Weight , Body Weight Changes , Carotid Artery Diseases , Depressive Disorder, Major , Echocardiography , Electrocardiography , Eosinophils , Erythrocyte Count , Forced Expiratory Volume , Hematocrit , Lipoprotein(a) , Metabolism , Myocardial Infarction , Pulse , response to TNF antagonist treatment , Triglycerides , Vitamin D
Related Studies:
  1. Aorta
    Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903303]
    The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
  2. Arteries
    , , . [PubMed 0]
  3. Arteries
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: QKI
Diseases sorted by gene-association score: angiocentric glioma* (368), 6q terminal deletion syndrome (13), schizophrenia (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 60.77 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 688.11 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -335.90551-0.610 Picture PostScript Text
3' UTR -2016.667886-0.256 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004087 - KH_dom
IPR004088 - KH_dom_type_1

Pfam Domains:
PF00013 - KH domain
PF16544 - Homodimerisation region of STAR domain protein
PF16551 - Putative nuclear localisation signal of quaking

SCOP Domains:
54791 - Eukaryotic type KH-domain (KH-domain type I)

ModBase Predicted Comparative 3D Structure on Q96PU8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
   Protein Sequence  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0005515 protein binding
GO:0017124 SH3 domain binding

Biological Process:
GO:0001570 vasculogenesis
GO:0006397 mRNA processing
GO:0006417 regulation of translation
GO:0007275 multicellular organism development
GO:0007286 spermatid development
GO:0008366 axon ensheathment
GO:0008380 RNA splicing
GO:0010628 positive regulation of gene expression
GO:0030154 cell differentiation
GO:0042552 myelination
GO:0042692 muscle cell differentiation
GO:0042759 long-chain fatty acid biosynthetic process
GO:0051028 mRNA transport
GO:0061158 3'-UTR-mediated mRNA destabilization

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm

-  Descriptions from all associated GenBank mRNAs
  LF210690 - JP 2014500723-A/18193: Polycomb-Associated Non-Coding RNAs.
AB067799 - Homo sapiens mRNA for RNA binding protein HQK-6, complete cds.
AB067800 - Homo sapiens mRNA for RNA binding protein HQK-7, complete cds.
AB067801 - Homo sapiens mRNA for RNA binding protein HQK-7B, complete cds.
AB067798 - Homo sapiens mRNA for RNA binding protein HQK-5, complete cds.
AF272349 - Homo sapiens quaking protein 3 (QK3) mRNA, partial cds.
BC019917 - Homo sapiens quaking homolog, KH domain RNA binding (mouse), mRNA (cDNA clone MGC:29987 IMAGE:3921310), complete cds.
AF142418 - Homo sapiens QUAKING isoform 2 (QUAKING) mRNA, complete cds.
AF142422 - Homo sapiens QUAKING isoform 3 (QUAKING) mRNA, complete cds.
AF142419 - Homo sapiens QUAKING isoform 6 (QUAKING) mRNA, complete cds.
AB590716 - Synthetic construct DNA, clone: pFN21AE1824, Homo sapiens QKI gene for quaking homolog, KH domain RNA binding, without stop codon, in Flexi system.
EU832828 - Synthetic construct Homo sapiens clone HAIB:100067857; DKFZo008F1233 quaking homolog, KH domain RNA binding (mouse) protein (QKI) gene, encodes complete protein.
GQ129383 - Synthetic construct Homo sapiens clone HAIB:100068518; DKFZo004F1234 quaking homolog, KH domain RNA binding (mouse) protein (QKI) gene, partial cds.
HQ447847 - Synthetic construct Homo sapiens clone IMAGE:100071191; CCSB008168_01 quaking homolog, KH domain RNA binding (mouse) (QKI) gene, encodes complete protein.
KJ892770 - Synthetic construct Homo sapiens clone ccsbBroadEn_02164 QKI gene, encodes complete protein.
DQ323998 - Homo sapiens QKI mRNA, complete cds, alternatively spliced.
AF142417 - Homo sapiens QUAKING isoform 1 (QUAKING) mRNA, complete cds.
AF142420 - Homo sapiens QUAKING isoform 4 (QUAKING) mRNA, complete cds.
AF142421 - Homo sapiens QUAKING isoform 5 (QUAKING) mRNA, complete cds.
AY780788 - Homo sapiens quaking isoform mRNA, complete cds, alternatively spliced.
AK027309 - Homo sapiens cDNA FLJ14403 fis, clone HEMBA1003805, highly similar to Mus musculus KH domain RNA binding protein QKI-5A mRNA.
BC012222 - Homo sapiens quaking homolog, KH domain RNA binding (mouse), mRNA (cDNA clone IMAGE:3450704), partial cds.
AK295235 - Homo sapiens cDNA FLJ52494 complete cds, highly similar to Mus musculus quaking (Qk), mRNA.
AK308784 - Homo sapiens cDNA, FLJ98825.
MA446267 - JP 2018138019-A/18193: Polycomb-Associated Non-Coding RNAs.
JD405048 - Sequence 386072 from Patent EP1572962.
JD114251 - Sequence 95275 from Patent EP1572962.
JD471404 - Sequence 452428 from Patent EP1572962.
JD340067 - Sequence 321091 from Patent EP1572962.
JD406108 - Sequence 387132 from Patent EP1572962.
JD389289 - Sequence 370313 from Patent EP1572962.
JD395180 - Sequence 376204 from Patent EP1572962.
JD407226 - Sequence 388250 from Patent EP1572962.
JC506674 - Sequence 42 from Patent EP2733220.
JC737786 - Sequence 42 from Patent WO2014075939.
JC506688 - Sequence 56 from Patent EP2733220.
JC737800 - Sequence 56 from Patent WO2014075939.
JC506661 - Sequence 29 from Patent EP2733220.
JC506666 - Sequence 34 from Patent EP2733220.
JC737773 - Sequence 29 from Patent WO2014075939.
JC737778 - Sequence 34 from Patent WO2014075939.
JC506684 - Sequence 52 from Patent EP2733220.
JC737796 - Sequence 52 from Patent WO2014075939.
LF340164 - JP 2014500723-A/147667: Polycomb-Associated Non-Coding RNAs.
MA575741 - JP 2018138019-A/147667: Polycomb-Associated Non-Coding RNAs.
LF340136 - JP 2014500723-A/147639: Polycomb-Associated Non-Coding RNAs.
LF340135 - JP 2014500723-A/147638: Polycomb-Associated Non-Coding RNAs.
KY966286 - Homo sapiens cell line 93T449 QKI/LOC100132735 fusion mRNA, partial sequence.
KY966311 - Homo sapiens cell line 94T778 QKI/LOC100132735 fusion mRNA, partial sequence.
MA575713 - JP 2018138019-A/147639: Polycomb-Associated Non-Coding RNAs.
MA575712 - JP 2018138019-A/147638: Polycomb-Associated Non-Coding RNAs.
LF340121 - JP 2014500723-A/147624: Polycomb-Associated Non-Coding RNAs.
AL050218 - Homo sapiens mRNA; cDNA DKFZp586I0923 (from clone DKFZp586I0923).
LF340120 - JP 2014500723-A/147623: Polycomb-Associated Non-Coding RNAs.
LF340111 - JP 2014500723-A/147614: Polycomb-Associated Non-Coding RNAs.
JD449033 - Sequence 430057 from Patent EP1572962.
JD419877 - Sequence 400901 from Patent EP1572962.
JD182320 - Sequence 163344 from Patent EP1572962.
LF340110 - JP 2014500723-A/147613: Polycomb-Associated Non-Coding RNAs.
JD358753 - Sequence 339777 from Patent EP1572962.
JD037551 - Sequence 18575 from Patent EP1572962.
JD433878 - Sequence 414902 from Patent EP1572962.
JD506756 - Sequence 487780 from Patent EP1572962.
JD299439 - Sequence 280463 from Patent EP1572962.
JD286268 - Sequence 267292 from Patent EP1572962.
JD313117 - Sequence 294141 from Patent EP1572962.
JD503711 - Sequence 484735 from Patent EP1572962.
JD261024 - Sequence 242048 from Patent EP1572962.
JD325491 - Sequence 306515 from Patent EP1572962.
JD417287 - Sequence 398311 from Patent EP1572962.
JD133382 - Sequence 114406 from Patent EP1572962.
JD180520 - Sequence 161544 from Patent EP1572962.
JD269722 - Sequence 250746 from Patent EP1572962.
LF340109 - JP 2014500723-A/147612: Polycomb-Associated Non-Coding RNAs.
JD297246 - Sequence 278270 from Patent EP1572962.
JD095561 - Sequence 76585 from Patent EP1572962.
LF340108 - JP 2014500723-A/147611: Polycomb-Associated Non-Coding RNAs.
LF340107 - JP 2014500723-A/147610: Polycomb-Associated Non-Coding RNAs.
LF210689 - JP 2014500723-A/18192: Polycomb-Associated Non-Coding RNAs.
AK096701 - Homo sapiens cDNA FLJ39382 fis, clone PERIC2000473.
LF340106 - JP 2014500723-A/147609: Polycomb-Associated Non-Coding RNAs.
LF340105 - JP 2014500723-A/147608: Polycomb-Associated Non-Coding RNAs.
MA575698 - JP 2018138019-A/147624: Polycomb-Associated Non-Coding RNAs.
MA575697 - JP 2018138019-A/147623: Polycomb-Associated Non-Coding RNAs.
MA575688 - JP 2018138019-A/147614: Polycomb-Associated Non-Coding RNAs.
MA575687 - JP 2018138019-A/147613: Polycomb-Associated Non-Coding RNAs.
MA575686 - JP 2018138019-A/147612: Polycomb-Associated Non-Coding RNAs.
MA575685 - JP 2018138019-A/147611: Polycomb-Associated Non-Coding RNAs.
MA575684 - JP 2018138019-A/147610: Polycomb-Associated Non-Coding RNAs.
MA446266 - JP 2018138019-A/18192: Polycomb-Associated Non-Coding RNAs.
MA575683 - JP 2018138019-A/147609: Polycomb-Associated Non-Coding RNAs.
MA575682 - JP 2018138019-A/147608: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96PU8 (Reactome details) participates in the following event(s):

R-HSA-6802927 BRAF and RAF fusion mutant dimers are phosphorylated
R-HSA-6802934 p-BRAF and RAF fusion dimers bind MAP2Ks and MAPKs
R-HSA-6802932 Dissociation of BRAF/RAF fusion complex
R-HSA-6802933 p-BRAF and RAF fusion dimers phosphorylate MAP2Ks
R-HSA-6802935 MAPKs are phosphorylated downstream of BRAF and RAF fusion dimers
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-6802957 Oncogenic MAPK signaling
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: HKQ, NM_006775, NP_006766, Q2I375, Q5MJQ1, Q969L9, Q96EJ3, Q96KA3, Q96PU6, Q96PU7, Q96PU8, Q9P0X6, Q9P0X7, Q9P0X8, Q9P0X9, Q9P0Y0, Q9P0Y1, QKI_HUMAN
UCSC ID: uc003qui.3
RefSeq Accession: NM_006775
Protein: Q96PU8 (aka QKI_HUMAN)
CCDS: CCDS5285.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_006775.2
exon count: 8CDS single in 3' UTR: no RNA size: 9479
ORF size: 1026CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2110.00frame shift in genome: no % Coverage: 99.83
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.