QKI

QKI
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4JVH
Identifiers
Aliases	QKI, Hqk, QK, QK1, QK3, hqkI, KH domain containing, RNA binding, KH domain containing RNA binding
External IDs	OMIM: 609590 MGI: 97837 HomoloGene: 11059 GeneCards: QKI
Gene location (Human)
Chr.	Chromosome 6 (human)[1]
End	163,578,592 bp[1]
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)[2]
End	10,538,783 bp[2]
RNA expression pattern
	Top expressed in
	endothelial cell; ; corpus callosum; ; inferior olivary nucleus; ; inferior ganglion of vagus nerve; ; external globus pallidus; ; subthalamic nucleus; ; superior vestibular nucleus; ; internal globus pallidus; ; Region I of hippocampus proper; ; ventral tegmental area;
	Top expressed in
	otic placode; ; saccule; ; sciatic nerve; ; left lung lobe; ; substantia nigra; ; cumulus cell; ; lateral geniculate nucleus; ; medial ganglionic eminence; ; primitive streak; ; globus pallidus;
	More reference expression data
	; ; ; ;
	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
	9444
	19317
	ENSG00000112531
	ENSMUSG00000062078
	Q96PU8
	Q9QYS9
	NM_001301085; NM_006775; NM_206853; NM_206854; NM_206855
	NM_001159516; NM_001159517; NM_021881
	NP_001288014; NP_006766; NP_996735; NP_996736; NP_996737
	NP_001152988; NP_001152989; NP_068681
	Wikidata
View/Edit Human	View/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

GRCh38: Ensembl release 89: ENSG00000112531 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000062078 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: QKI quaking homolog, KH domain RNA binding (mouse)".
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.
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.
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.
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.
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.
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.
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.

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000112531 - Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[entrez-5] "Entrez Gene: QKI quaking homolog, KH domain RNA binding (mouse)".

[pmid10535969-6] 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.

[pmid9433137-7] 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.

[pmid9671495-8] 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.

[pmid10332027-9] 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.

[pmid12549823-10] 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.

QKI

References

Further reading