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Aliases & Descriptions for QKI
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases DKFZp586I0923 2 HKQ 3 Hqk 2 , 3 HqkI 3 OTTHUMP00000017581 2 OTTHUMP00000017582 2 OTTHUMP00000017583 2 QK 2 QK1 2 QK3 1 , 2
Descriptions RNA binding protein HQK 2 homolog of mouse quaking QKI (KH domain RNA binding protein) 2 quaking homolog, KH domain RNA binding 2 quaking homolog, KH domain RNA binding (mouse) 2
Search outside databases for aliases for QKI genePrevious GC identifers: GC06P163188 GC06P163709 GC06P163689 GC06P163728
Summaries for QKI (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for QKI : QKI belongs to a family of RNA-binding proteins that have an HNRNPK (MIM 600712) homology (KH)domain embedded in a 200-amino acid region called the GSG domain. Other members of this familyinclude SAM68 (KHDRBS1; MIM 602489) and SF1 (MIM 601516) (Chen and Richard, 1998 [PubMed9671495]). QKI proteins regulate RNA splicing, export of target RNAs from the nucleus, translationof proteins, and RNA stability (Lauriat et al., 2008 [PubMed 17918747]).[supplied by OMIM] UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8 Function : RNA-binding protein that plays a central role in myelinization. Binds to the5'-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 asMBP and CDKN1B which promotes oligodendrocyte differentiation. Participates in mRNA transport byregulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAGpre-mRNA. Acts as a translational repressor (By similarity)
Gene Wiki entry for QKI
Genomic Location for QKI
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the QKI gene Entrez Gene cytogenetic band: 6q26|6q26-q27 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) GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure
GeneLoc location for GC06P163806:
(about GC identifiers )
Start:
163,755,665 bp from pter
End:
163,914,886 bp from pter
Size:
159,222 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000006.10 NT_007422.13 Proteins for QKI
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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 (Bysimilarity)
Subcellular location : Nucleus (By similarity). Cytoplasm (By similarity)
Sequence caution : Sequence=AAF63412.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA;Sequence=AAF63415.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=AAF63416.1;Type=Miscellaneous discrepancy; Note=Chimeric cDNA;
Secondary accessions : Q2I375 Q5MJQ1 Q969L9 Q96EJ3 Q96KA3 Q96PU6 Q96PU7 Q9P0X6 Q9P0X7 Q9P0X8 Q9P0X9Q9P0Y0 Q9P0Y1 Alternative splicing : 8 isoforms : Q96PU8-1 Q96PU8-2 Q96PU8-3 Q96PU8-4 Q96PU8-5 Q96PU8-6 Q96PU8-7 Q96PU8-8
Post-translational modifications:
Methylated by PRMT1 (By similarity)1
Tyrosine phosphorylated at its C-terminus, probably by FYN. Phosphorylation leads to decreasedmRNA-binding affinity, affecting transport and/or stabilization of MBP mRNA (By similarity)1
REFSEQ proteins (4 alternative transcripts):
NP_006766.1 NP_996735.1 NP_996736.1 NP_996737.1 ENSEMBL proteins: ENSP00000375976 ENSP00000355094 ENSP00000354951 ENSP00000354867 ENSP00000275262 ENSP00000375973 Human Recombinant Proteins                OriGene Purified Recombinant Human Proteins (see all 3 ): QKI 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for QKI: Assays for QKI:
Protein
Domains/ Families for QKI(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q96PU8 ProtoNet protein and cluster: Q96PU8
2 Blocks protein families : IPB004087 KH domain IPB004088 KH UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8 Similarity : Contains 1 KH domain
Gene Function for QKI
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
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Abnova ,
siRNAs from
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5 ): XM_037438 Applied Biosystems Silencer ® siRNAs for QKI Sigma-Aldrich siRNA for QKI Sigma-Aldrich shRNA for QKI Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_006775                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_006775                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_006775  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_006775 UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8 Function : RNA-binding protein that plays a central role in myelinization. Binds to the5'-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 asMBP and CDKN1B which promotes oligodendrocyte differentiation. Participates in mRNA transport byregulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAGpre-mRNA. Acts as a translational repressor (By similarity)
13 MGI mutant phenotypes (inferred from 8 alleles ) (MGI details for Qk) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for QKI
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/27 Interacting proteins for QKI (ENSP00000355094 3 Q96PU8 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 27
)Interactant Interaction Details GeneCard External ID(s) ENSG00000078328 Q9NWB1 1 , 2 EBI-945792, EBI-945906 MINT-2855822 MINT-2866408 FOX1 Q9NWB1 1 , 2 EBI-945792, EBI-945906 MINT-2855822 MINT-2866408 HNRNPK P61978 1 , 2 STRING (score=.77 ) EBI-945792, EBI-304185 MINT-2855592 MINT-2859777 EBI-945792, EBI-304185 MINT-2855592 MINT-2859777 PCBP1 Q15365 1 , 2 EBI-945792, EBI-946095 MINT-2866427 MINT-2856312 EBI-945792, EBI-946095 MINT-2866427 MINT-2856312 PTBP1 P26599 1 , 2 EBI-945792, EBI-350540 MINT-2855611 MINT-2862237 EBI-945792, EBI-350540 MINT-2855611 MINT-2862237
About this table 5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
):
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Drugs & Compounds for QKI (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for QKI
Transcripts for QKI(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
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shRNA from
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Tagged/untagged cDNA clones from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5 ): XM_037438 Sigma-Aldrich siRNA for QKI Sigma-Aldrich shRNA for QKI Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_006775 NM_206853 NM_206854 NM_206855
REFSEQ mRNAs for QKI gene (4 alternative transcripts): NM_006775.1 NM_206853.1 NM_206854.1 NM_206855.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_006775 NM_206853 NM_206854 NM_206855
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_006775                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_006775                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_006775  
Additional cDNA sequence: AK096701.1
24/33 DOTS entries (see all 33
): 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.91641735 DT.100798529 DT.92439628 DT.100889285 DT.121391627 DT.121391760
24/580 AceView cDNA sequences (see all 580
):BQ005442 AL118610 BF198125 BU507882 BF592851 W02744 AI140409 AA412385 CB155403 AL119689 BF445783 AB067801 AW512022 AW009668 AB067800 AF272349 AL596541 CR611372 BM672054 BF439537 AW513028 AI498917 BE466275 BF060766
highest scoring ESTs for QKI :AA002101 AA002102 AA090044 AA102572 AA149507 AA215424 AA255504 AA279636 AA280004 AA284979
Unigene Clusters for QKI: Quaking homolog, KH domain RNA binding (mouse) Hs.510324 [show with all ESTs ] , Hs.593520 [show with all ESTs ] Unigene Representative Sequences: NM_206855 , AK096701 GeneLoc Exon Structure 5/10 Alternative Splicing Database (ASD) splice patterns (SP) for QKI (see all 10
) 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 :             -   -                 -   -   -        
About this scheme ECgene alternative splicing isoforms for QKI 6 Ensembl transcripts including schematic representations : ENST00000392130
ENST00000361752
ENST00000361758
ENST00000361195
ENST00000275262
ENST00000392127
Expression for QKI
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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QKI expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for QKI 1 / 2 / 3
20 probe-sets matching QKI gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene clusters: Hs.510324 Hs.593520 Expression variation in blood from EXPOLDB for QKI
UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8 Tissue specificity : Expressed in the frontal cortex of brain
Orthologs for QKI
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for QKI gene from 5/11 species (see all 11
)
About this table Species with no ortholog for QKI ENSEMBL Gene Tree for QKI Paralogs for QKI (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for QKI gene SF1 2
SNPs/Variants for QKI (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for QKI (up to first 250kb)
Disorders & Mutations for QKI
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 609590 UniProtKB/Swiss-Prot: QKI_HUMAN, Q96PU8
May play a role in genetic susceptibility to schizophrenia. QKI levels of some isoformssuch as isoform 6, are frequently down-regulated in schizophrenic patients Deletion of the QKI gene may play a role in astrocytic tumors
Human Genome Epidemiology Navigator: QKI (1 document)
Medical News for QKI (Possibly Related Articles in
Doctor's Guide )
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--
Publications for QKI (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/34 PubMed articles for QKI gene (see all 34
): Human QKI, a potential regulator of mRNA expression of human oligodendrocyte-related genes involved in schizophrenia. (PubMed id 16641098) 3, 4 Aberg K.... Jazin E. (2006) Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array-CGH. (PubMed id 16205629) 3, 4 Ichimura K.... Collins V.P. (2006) Human QKI, a new candidate gene for schizophrenia involved in myelination. (PubMed id 16342280) 3, 4 Aeberg K.... Jazin E. (2006) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404) 3, 4 Mungall A.J.... Beck S. (2003) Expression of Hqk encoding a KH RNA binding protein is altered in human glioma. (PubMed id 11856480) 3, 4 Li Z.Z.... Abe K. (2002) The STAR protein QKI-6 is a translational repressor. (PubMed id 10535969) 2, 3 Saccomanno L....Goodwin E.B. (1999) The human homolog of the QKI gene affected in the severe dysmyelination "quaking" mouse phenotype: downregulated in multiple brain regions in schizophrenia. (PubMed id 17012699) 1, 3 Haroutunian V....Davis K.L. (2006) No association found between the promoter variations of QKI and schizophrenia in the Chinese population. (PubMed id 18938205) 3 Huang K....Shi Y. (2008)
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Genome Databases showing QKI
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing QKI
(According to HUGE )
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--
Specialized Databases showing QKI (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for QKI (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for QKI:
Recombinant Proteins (QK1 ) Antibodies (QK1 )
Search Tocris compounds for QKI
Antibodies for QKI
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009