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] Band 6q26 Start 163,414,000 bp [1] End 163,578,592 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17 A1|17 7.75 cM Start 10,202,601 bp [2] End 10,319,854 bp [2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • SH3 domain binding • GO:0001948 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
Species	Human	Mouse
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 Mb	Chr 17: 10.2 – 10.32 Mb
PubMed search	[3]	[4]
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

1. GRCh38: Ensembl release 89: ENSG00000112531 - Ensembl, May 2017
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.
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.