QKI

Protein
QKI
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4JVH

Identifiers
AliasesQKI, Hqk, QK, QK1, QK3, hqkI, KH domain containing, RNA binding, KH domain containing RNA binding
External IDsOMIM: 609590; MGI: 97837; HomoloGene: 11059; GeneCards: QKI; OMA:QKI - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for QKI
Genomic location for QKI
Band6q26Start163,414,000 bp[1]
End163,578,592 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for QKI
Genomic location for QKI
Band17 A1|17 7.75 cMStart10,421,530 bp[2]
End10,538,783 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • dorsal motor nucleus of vagus nerve

  • corpus callosum

  • inferior olivary nucleus

  • inferior ganglion of vagus nerve

  • external globus pallidus

  • pars reticulata

  • subthalamic nucleus

  • superior vestibular nucleus

  • internal globus pallidus
Top expressed in
  • Gonadal ridge

  • otic placode

  • saccule

  • sciatic nerve

  • left lung lobe

  • deep cerebellar nuclei

  • substantia nigra

  • cumulus cell

  • lateral geniculate nucleus

  • tail of embryo
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • SH3 domain binding
  • protein binding
  • nucleic acid binding
  • mRNA binding
  • RNA binding
Cellular component
  • cytoplasm
  • nucleus
  • synapse
Biological process
  • cell differentiation
  • mRNA transport
  • mRNA processing
  • vasculogenesis
  • multicellular organism development
  • axon ensheathment
  • muscle cell differentiation
  • positive regulation of gene expression
  • long-chain fatty acid biosynthetic process
  • RNA splicing
  • spermatid development
  • myelination
  • 3'-UTR-mediated mRNA destabilization
  • regulation of translation
  • transport
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

9444

19317

Ensembl

ENSG00000112531

ENSMUSG00000062078

UniProt

Q96PU8

Q9QYS9

RefSeq (mRNA)

NM_001301085
NM_006775
NM_206853
NM_206854
NM_206855

NM_001159516
NM_001159517
NM_021881

RefSeq (protein)

NP_001288014
NP_006766
NP_996735
NP_996736
NP_996737

NP_001152988
NP_001152989
NP_068681

Location (UCSC)Chr 6: 163.41 – 163.58 MbChr 17: 10.42 – 10.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Quaking homolog, KH domain RNA binding (mouse), also known as QKI, is a protein which in humans is encoded by the QKI gene.[5][6]

QKI belongs to a family of RNA-binding proteins called STAR proteins for Signal Transduction and Activation of RNA.[7] They have an HNRNPK homology (KH) domain embedded in a 200-amino acid region called the GSG domain. Other members of this family include SAM68 (KHDRBS1) and SF1 .[8] Two more new members are KHDRBS3[9] and KHDRBS2.[10]

The QKI gene is implicated as being important in schizophrenia,[11][12] and QKI controls translation of many oligodendrocyte-related genes.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112531 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062078 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: QKI quaking homolog, KH domain RNA binding (mouse)".
  6. ^ Saccomanno L, Loushin C, Jan E, Punkay E, Artzt K, Goodwin EB (October 1999). "The STAR protein QKI-6 is a translational repressor". Proc. Natl. Acad. Sci. U.S.A. 96 (22): 12605–10. Bibcode:1999PNAS...9612605S. doi:10.1073/pnas.96.22.12605. PMC 23011. PMID 10535969.
  7. ^ Vernet C, Artzt K (December 1997). "STAR, a gene family involved in signal transduction and activation of RNA". Trends Genet. 13 (12): 479–84. doi:10.1016/S0168-9525(97)01269-9. PMID 9433137.
  8. ^ Chen T, Richard S (August 1998). "Structure-function analysis of Qk1: a lethal point mutation in mouse quaking prevents homodimerization". Mol. Cell. Biol. 18 (8): 4863–71. doi:10.1128/MCB.18.8.4863. PMC 109071. PMID 9671495.
  9. ^ Venables JP, Vernet C, Chew SL, Elliott DJ, Cowmeadow RB, Wu J, Cooke HJ, Artzt K, Eperon IC (June 1999). "T-STAR/ETOILE: a novel relative of SAM68 that interacts with an RNA-binding protein implicated in spermatogenesis". Hum. Mol. Genet. 8 (6): 959–69. doi:10.1093/hmg/8.6.959. PMID 10332027.
  10. ^ Wang L, Xu J, Zeng L, Ye X, Wu Q, Dai J, Ji C, Gu S, Zhao C, Xie Y, Mao Y (December 2002). "Cloning and characterization of a novel human STAR domain containing cDNA KHDRBS2". Mol. Biol. Rep. 29 (4): 369–75. doi:10.1023/A:1021246109101. PMID 12549823. S2CID 21864405.
  11. ^ Aberg K, Saetre P, Jareborg N, Jazin E (May 2006). "Human QKI, a potential regulator of mRNA expression of human oligodendrocyte-related genes involved in schizophrenia". Proc. Natl. Acad. Sci. U.S.A. 103 (19): 7482–7. Bibcode:2006PNAS..103.7482A. doi:10.1073/pnas.0601213103. PMC 1464365. PMID 16641098.
  12. ^ Haroutunian V, Katsel P, Dracheva S, Davis KL (October 2006). "The human homolog of the QKI gene affected in the severe dysmyelination "quaking" mouse phenotype: downregulated in multiple brain regions in schizophrenia". Am J Psychiatry. 163 (10): 1834–7. doi:10.1176/ajp.2006.163.10.1834. PMID 17012699.

Further reading

  • Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, et al. (1995). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID 7829101.
  • Saccomanno L, Loushin C, Jan E, et al. (1999). "The STAR protein QKI-6 is a translational repressor". Proc. Natl. Acad. Sci. U.S.A. 96 (22): 12605–10. Bibcode:1999PNAS...9612605S. doi:10.1073/pnas.96.22.12605. PMC 23011. PMID 10535969.
  • Li ZZ, Kondo T, Murata T, et al. (2002). "Expression of Hqk encoding a KH RNA binding protein is altered in human glioma". Jpn. J. Cancer Res. 93 (2): 167–77. doi:10.1111/j.1349-7006.2002.tb01255.x. PMC 5926958. PMID 11856480.
  • Wu JI, Reed RB, Grabowski PJ, Artzt K (2002). "Function of quaking in myelination: regulation of alternative splicing". Proc. Natl. Acad. Sci. U.S.A. 99 (7): 4233–8. Bibcode:2002PNAS...99.4233W. doi:10.1073/pnas.072090399. PMC 123631. PMID 11917126.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Moore FL, Jaruzelska J, Fox MS, et al. (2003). "Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins". Proc. Natl. Acad. Sci. U.S.A. 100 (2): 538–43. Bibcode:2003PNAS..100..538M. doi:10.1073/pnas.0234478100. PMC 141031. PMID 12511597.
  • Côté J, Boisvert FM, Boulanger MC, et al. (2003). "Sam68 RNA binding protein is an in vivo substrate for protein arginine N-methyltransferase 1". Mol. Biol. Cell. 14 (1): 274–87. doi:10.1091/mbc.E02-08-0484. PMC 140244. PMID 12529443.
  • Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  • Ichimura K, Mungall AJ, Fiegler H, et al. (2006). "Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array-CGH". Oncogene. 25 (8): 1261–71. doi:10.1038/sj.onc.1209156. PMC 2760128. PMID 16205629.
  • Aberg K, Saetre P, Lindholm E, et al. (2006). "Human QKI, a new candidate gene for schizophrenia involved in myelination". Am. J. Med. Genet. B Neuropsychiatr. Genet. 141 (1): 84–90. doi:10.1002/ajmg.b.30243. PMID 16342280. S2CID 11733591.
  • Aberg K, Saetre P, Jareborg N, Jazin E (2006). "Human QKI, a potential regulator of mRNA expression of human oligodendrocyte-related genes involved in schizophrenia". Proc. Natl. Acad. Sci. U.S.A. 103 (19): 7482–7. Bibcode:2006PNAS..103.7482A. doi:10.1073/pnas.0601213103. PMC 1464365. PMID 16641098.
  • Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
  • Haroutunian V, Katsel P, Dracheva S, Davis KL (2006). "The human homolog of the QKI gene affected in the severe dysmyelination "quaking" mouse phenotype: downregulated in multiple brain regions in schizophrenia". The American Journal of Psychiatry. 163 (10): 1834–7. doi:10.1176/ajp.2006.163.10.1834. PMID 17012699.
  • Zhao L, Tian D, Xia M, et al. (2006). "Rescuing qkV dysmyelination by a single isoform of the selective RNA-binding protein QKI". J. Neurosci. 26 (44): 11278–86. doi:10.1523/JNEUROSCI.2677-06.2006. PMC 6674528. PMID 17079655.
  • v
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  • 2bl5: SOLUTION STRUCTURE OF THE KH-QUA2 REGION OF THE XENOPUS STAR-GSG QUAKING PROTEIN.
    2bl5: SOLUTION STRUCTURE OF THE KH-QUA2 REGION OF THE XENOPUS STAR-GSG QUAKING PROTEIN.


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