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; OMA:QKI - orthologs
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 10,421,530 bp [2] End 10,538,783 bp [2]
RNA expression pattern Bgee Human Mouse (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 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: 10.42 – 10.54 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. hdl: 10669/15162 . 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.