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Aliases for QKI Gene

Aliases for QKI Gene

  • QKI, KH Domain Containing RNA Binding 2 3 5
  • HqkI 3 4
  • Hqk 3 4
  • Homolog Of Mouse Quaking QKI (KH Domain RNA Binding Protein) 3
  • Quaking Homolog, KH Domain RNA Binding (Mouse) 2
  • Quaking Homolog, KH Domain RNA Binding 3
  • RNA Binding Protein HQK 3
  • Protein Quaking 3
  • QK1 3
  • QK3 3
  • HKQ 4
  • QK 3

External Ids for QKI Gene

Previous GeneCards Identifiers for QKI Gene

  • GC06P163188
  • GC06P163709
  • GC06P163689
  • GC06P163728
  • GC06P163806
  • GC06P163755
  • GC06P163835
  • GC06P161274

Summaries for QKI Gene

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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

GeneCards Summary for QKI Gene

QKI (QKI, KH Domain Containing RNA Binding) is a Protein Coding gene. Diseases associated with QKI include Angiocentric Glioma and 6Q Terminal Deletion Syndrome. Among its related pathways are HIV Life Cycle and Oncogenic MAPK signaling. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is KHDRBS1.

UniProtKB/Swiss-Prot for QKI Gene

  • RNA-binding protein that plays a central role in myelinization (PubMed:16641098). Binds to the 5-NACUAAY-N(1,20)-UAAY-3 RNA core sequence. Regulates target mRNA stability (PubMed:23630077). In addition, acts by regulating pre-mRNA splicing, mRNA export 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 (PubMed:16641098). 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for QKI Gene

Genomics for QKI Gene

Regulatory Elements for QKI Gene

Enhancers for QKI Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G163351 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.9 -59.5 -59512 5.2 HDGF PKNOX1 CREB3L1 ARNT YBX1 ZNF766 FOS KLF13 REST MEF2D QKI PACRG-AS3 DKFZp451B082 RPL37AP4
GH06G163404 1.8 FANTOM5 Ensembl ENCODE dbSUPER 21.4 -8.2 -8184 3.3 HDGF PKNOX1 MLX ARID4B DMAP1 ZNF48 SP5 MXD4 KAT8 RFX3 QKI PACRG-AS3 CAHM LOC105378100
GH06G163386 1.2 Ensembl ENCODE dbSUPER 26.8 -26.5 -26501 1.3 MCM3 JUN GFI1B MAX KLF17 ZNF398 NR2F2 GATA2 SMARCA4 HNF4A QKI LOC105378100 LOC105378099
GH06G163456 1.3 Ensembl ENCODE dbSUPER 16.2 +45.5 45523 5.5 CTCF IRF2 ASH2L MAX RBBP5 ZBTB40 TEAD3 ZNF316 POLR2A STAT2 QKI GC06P163473
GH06G163333 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -75.7 -75703 8.9 PKNOX1 CBX3 ATF1 BMI1 RAD21 CBX5 GATA2 SCRT2 ZNF143 ETV6 PACRG-AS3 QKI DKFZp451B082 PACRG-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around QKI on UCSC Golden Path with GeneCards custom track

Promoters for QKI Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000206594 1900 7001 ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 FEZF1 YY1 ZNF766 CBX5

Genomic Location for QKI Gene

Chromosome:
6
Start:
163,414,000 bp from pter
End:
163,578,596 bp from pter
Size:
164,597 bases
Orientation:
Plus strand

Genomic View for QKI Gene

Genes around QKI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
QKI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for QKI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for QKI Gene

Proteins for QKI Gene

  • Protein details for QKI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PU8-QKI_HUMAN
    Recommended name:
    Protein quaking
    Protein Accession:
    Q96PU8
    Secondary Accessions:
    • Q2I375
    • Q5MJQ1
    • Q969L9
    • Q96EJ3
    • Q96KA3
    • Q96PU6
    • Q96PU7
    • Q9P0X6
    • Q9P0X7
    • Q9P0X8
    • Q9P0X9
    • Q9P0Y0
    • Q9P0Y1

    Protein attributes for QKI Gene

    Size:
    341 amino acids
    Molecular mass:
    37671 Da
    Quaternary structure:
    • Homodimer (PubMed:23630077). Does not require RNA to homodimerize. Able to heterodimerize with BICC1 (By similarity).
    SequenceCaution:
    • Sequence=AAF63412.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=AAF63413.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF63413.1; Type=Miscellaneous discrepancy; Note=Cloning artifact in N-terminus.; Evidence={ECO:0000305}; Sequence=AAF63414.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF63414.1; Type=Miscellaneous discrepancy; Note=Cloning artifact in N-terminus.; Evidence={ECO:0000305}; Sequence=AAF63415.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=AAF63416.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=AAF63417.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF63417.1; Type=Miscellaneous discrepancy; Note=Cloning artifact in N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55032.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for QKI Gene

    Alternative splice isoforms for QKI Gene

neXtProt entry for QKI Gene

Post-translational modifications for QKI Gene

  • Methylated by PRMT1.
  • 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).
  • Ubiquitination at isoforms=3, 5, 6, 8, 991
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for QKI Gene

Domains & Families for QKI Gene

Protein Domains for QKI Gene

Suggested Antigen Peptide Sequences for QKI Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PU8

UniProtKB/Swiss-Prot:

QKI_HUMAN :
  • The KH domain and the Qua2 region are involved in RNA binding.
Domain:
  • The KH domain and the Qua2 region are involved in RNA binding.
genes like me logo Genes that share domains with QKI: view

No data available for Gene Families for QKI Gene

Function for QKI Gene

Molecular function for QKI Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein that plays a central role in myelinization (PubMed:16641098). Binds to the 5-NACUAAY-N(1,20)-UAAY-3 RNA core sequence. Regulates target mRNA stability (PubMed:23630077). In addition, acts by regulating pre-mRNA splicing, mRNA export 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 (PubMed:16641098). 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) - Molecular Function for QKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IDA 22681889
GO:0003729 mRNA binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with QKI: view
genes like me logo Genes that share phenotypes with QKI: view

Animal Models for QKI Gene

MGI Knock Outs for QKI:
  • Qk tm1Imeg

Animal Model Products

CRISPR Products

miRNA for QKI Gene

miRTarBase miRNAs that target QKI

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for QKI Gene

Localization for QKI Gene

Subcellular locations from UniProtKB/Swiss-Prot for QKI Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for QKI gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for QKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with QKI: view

Pathways & Interactions for QKI Gene

genes like me logo Genes that share pathways with QKI: view

Pathways by source for QKI Gene

Gene Ontology (GO) - Biological Process for QKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis IEA --
GO:0006397 mRNA processing IEA --
GO:0006417 regulation of translation IEA --
GO:0006810 transport IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with QKI: view

No data available for SIGNOR curated interactions for QKI Gene

Drugs & Compounds for QKI Gene

No Compound Related Data Available

Transcripts for QKI Gene

Unigene Clusters for QKI Gene

QKI, KH domain containing, RNA binding:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for QKI Gene

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: - - - - -
SP6: - - - - -
SP7: -
SP8:
SP9:
SP10:

Relevant External Links for QKI Gene

GeneLoc Exon Structure for
QKI
ECgene alternative splicing isoforms for
QKI

Expression for QKI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for QKI Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for QKI Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.3).

Protein differential expression in normal tissues from HIPED for QKI Gene

This gene is overexpressed in Monocytes (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for QKI Gene



Protein tissue co-expression partners for QKI Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of QKI Gene:

QKI

SOURCE GeneReport for Unigene cluster for QKI Gene:

Hs.510324

mRNA Expression by UniProt/SwissProt for QKI Gene:

Q96PU8-QKI_HUMAN
Tissue specificity: Expressed in the frontal cortex of brain. Down-regulated in the brain of schizophrenic patients.

Evidence on tissue expression from TISSUES for QKI Gene

  • Heart(5)
  • Nervous system(5)
  • Liver(4.8)
  • Skin(4.3)
  • Kidney(2.3)
  • Lung(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with QKI: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for QKI Gene

Orthologs for QKI Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for QKI Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia QKI 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia QKI 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia QKI 34 35
  • 96.77 (n)
mouse
(Mus musculus)
Mammalia Qk 34 16 35
  • 96.38 (n)
cow
(Bos Taurus)
Mammalia QKI 34 35
  • 95.8 (n)
rat
(Rattus norvegicus)
Mammalia Qk 34
  • 95.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia QKI 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves QKI 34 35
  • 92.55 (n)
lizard
(Anolis carolinensis)
Reptilia QKI 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia qki 34
  • 84.73 (n)
Str.3106 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.33570 34
zebrafish
(Danio rerio)
Actinopterygii qkib 34 35
  • 80.3 (n)
zgc65890 34
fruit fly
(Drosophila melanogaster)
Insecta how 35 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T21G5.5 36
  • 63 (a)
gld-1 36 35
  • 54 (a)
asd-2 35
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSL5 35
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
Species where no ortholog for QKI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for QKI Gene

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

Paralogs for QKI Gene

Paralogs for QKI Gene

(2) SIMAP similar genes for QKI Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with QKI: view

Variants for QKI Gene

Sequence variations from dbSNP and Humsavar for QKI Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_036051 A colorectal cancer sample
rs1000001396 -- 163,493,159(+) GGAGT(A/T)TTGCT intron-variant
rs1000007257 -- 163,424,664(+) ATTTT(C/G)TGTGA intron-variant
rs1000018046 -- 163,471,832(+) AACAA(C/T)TCATT intron-variant
rs1000018788 -- 163,511,334(+) GTAAA(C/T)CCAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for QKI Gene

Variant ID Type Subtype PubMed ID
dgv11024n54 CNV loss 21841781
dgv11025n54 CNV loss 21841781
dgv11026n54 CNV gain 21841781
dgv11027n54 CNV loss 21841781
esv2675455 CNV deletion 23128226
esv26812 CNV loss 19812545
esv2750737 CNV loss 17666407
esv2759490 CNV loss 17122850
esv2763608 CNV loss 21179565
esv3540821 CNV deletion 23714750
esv3571519 CNV loss 25503493
esv3611578 CNV loss 21293372
esv3611579 CNV loss 21293372
esv3611580 CNV loss 21293372
esv3611581 CNV loss 21293372
nsv1019551 CNV loss 25217958
nsv1027863 CNV loss 25217958
nsv1137562 CNV deletion 24896259
nsv523664 CNV gain 19592680
nsv524205 CNV loss 19592680
nsv605204 CNV gain+loss 21841781
nsv605205 CNV gain+loss 21841781
nsv605209 CNV loss 21841781
nsv949885 CNV deletion 24416366
nsv949886 CNV duplication 24416366
nsv981204 CNV duplication 23825009

Variation tolerance for QKI Gene

Residual Variation Intolerance Score: 18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for QKI Gene

Human Gene Mutation Database (HGMD)
QKI
SNPedia medical, phenotypic, and genealogical associations of SNPs for
QKI

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for QKI Gene

Disorders for QKI Gene

MalaCards: The human disease database

(3) MalaCards diseases for QKI Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
angiocentric glioma
6q terminal deletion syndrome
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search QKI in MalaCards View complete list of genes associated with diseases

Relevant External Links for QKI

Genetic Association Database (GAD)
QKI
Human Genome Epidemiology (HuGE) Navigator
QKI
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
QKI
genes like me logo Genes that share disorders with QKI: view

No data available for UniProtKB/Swiss-Prot and Genatlas for QKI Gene

Publications for QKI Gene

  1. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3 4 64
  2. Characterization of QKI gene expression, genetics, and epigenetics in suicide victims with major depressive disorder. (PMID: 19545858) Klempan T.A. … Turecki G. (Biol. Psychiatry 2009) 3 22 64
  3. No association found between the promoter variations of QKI and schizophrenia in the Chinese population. (PMID: 18938205) Huang K. … Shi Y. (Prog. Neuropsychopharmacol. Biol. Psychiatry 2009) 3 46 64
  4. Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. (PMID: 18615156) Liu C. … Gregersen P.K. (Mol. Med. 2008) 3 46 64
  5. Human QKI, a new candidate gene for schizophrenia involved in myelination. (PMID: 16342280) Aeberg K. … Jazin E. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006) 3 4 64

Products for QKI Gene

  • Addgene plasmids for QKI

Sources for QKI Gene

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