QKI |
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![](//upload.wikimedia.org/wikipedia/commons/thumb/1/1e/Protein_QKI_PDB_2bl5.png/250px-Protein_QKI_PDB_2bl5.png) |
Estruturas disponíveis |
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PDB | Pesquisa Human UniProt: PDBe RCSB |
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Lista de códigos id do PDB |
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4JVH |
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Identificadores |
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Nomes alternativos | QKI |
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IDs externos | OMIM: 609590 HomoloGene: 11059 GeneCards: QKI |
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Ontologia genética |
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Função molecular | • SH3 domain binding • GO:0001948, GO:0016582 ligação a proteínas plasmáticas • nucleic acid binding • mRNA binding • RNA binding
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Componente celular | • citoplasma • núcleo celular • sinapse
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Processo biológico | • diferenciação celular • mRNA transport • mRNA processing • vasculogenesis • multicellular organism development • axon ensheathment • muscle cell differentiation • GO:1901313 positive regulation of gene expression • long-chain fatty acid biosynthetic process • Splicing • spermatid development • myelination • 3'-UTR-mediated mRNA destabilization • regulation of translation • GO:0015915 transport
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Sources:Amigo / QuickGO |
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Ortólogos |
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Espécie | Humano | Rato |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001301085 NM_006775 NM_206853 NM_206854 NM_206855 |
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RefSeq (proteína) | |
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NP_001288014 NP_006766 NP_996735 NP_996736 NP_996737 |
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Localização (UCSC) | n/a | n/a |
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Pesquisa PubMed | [1] | n/a |
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Wikidata |
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A Quaking homólogo, contendo KH domínio de ligação de ARN é uma enzima que em humanos é codificada pelo gene QKI.[2][3]
QKI pertence a uma família de proteínas de ligação a RNA chamadas proteínas STAR para Transdução de Sinal e Ativação de RNA.[4] Eles possuem um domínio de homologia de HNRNPK (KH) incorporado em uma região de 200 aminoácidos chamada domínio GSG. Outros membros desta família incluem SAM68 (KHDRBS1) e SF1.[5] Mais dois novos membros são KHDRBS3[6] e KHDRBS2.[7]
O gene QKI está implicado como sendo importante na esquizofrenia,[8][9] e o QKI controla a tradução de muitos genes relacionados a oligodendrócitos.
Referências
- ↑ «Human PubMed Reference:»
- ↑ «Entrez Gene: QKI quaking homolog, KH domain RNA binding (mouse)»
- ↑ Saccomanno L, Loushin C, Jan E, Punkay E, Artzt K, Goodwin EB (outubro de 1999). «The STAR protein QKI-6 is a translational repressor». Proc. Natl. Acad. Sci. U.S.A. 96 (22): 12605–10. Bibcode:1999PNAS...9612605S. PMC 23011
. PMID 10535969. doi:10.1073/pnas.96.22.12605 - ↑ Vernet C, Artzt K (dezembro de 1997). «STAR, a gene family involved in signal transduction and activation of RNA». Trends Genet. 13 (12): 479–84. PMID 9433137. doi:10.1016/S0168-9525(97)01269-9
- ↑ Chen T, Richard S (agosto de 1998). «Structure-function analysis of Qk1: a lethal point mutation in mouse quaking prevents homodimerization». Mol. Cell. Biol. 18 (8): 4863–71. PMC 109071
. PMID 9671495. doi:10.1128/MCB.18.8.4863 - ↑ Venables JP, Vernet C, Chew SL, Elliott DJ, Cowmeadow RB, Wu J, Cooke HJ, Artzt K, Eperon IC (junho de 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. PMID 10332027. doi:10.1093/hmg/8.6.959
- ↑ Wang L, Xu J, Zeng L, Ye X, Wu Q, Dai J, Ji C, Gu S, Zhao C, Xie Y, Mao Y (dezembro de 2002). «Cloning and characterization of a novel human STAR domain containing cDNA KHDRBS2». Mol. Biol. Rep. 29 (4): 369–75. PMID 12549823. doi:10.1023/A:1021246109101
- ↑ Aberg K, Saetre P, Jareborg N, Jazin E (maio de 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. PMC 1464365
. PMID 16641098. doi:10.1073/pnas.0601213103 - ↑ Haroutunian V, Katsel P, Dracheva S, Davis KL (outubro de 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. PMID 17012699. doi:10.1176/ajp.2006.163.10.1834
Leitura adicional
- 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. PMID 7829101. doi:10.1006/geno.1994.1457
- 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. PMC 23011
. PMID 10535969. doi:10.1073/pnas.96.22.12605 - 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. PMC 5926958
. PMID 11856480. doi:10.1111/j.1349-7006.2002.tb01255.x - 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. PMC 123631
. PMID 11917126. doi:10.1073/pnas.072090399 - 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. PMC 139241
. PMID 12477932. doi:10.1073/pnas.242603899 - 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. PMC 141031
. PMID 12511597. doi:10.1073/pnas.0234478100 - 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. PMC 140244
. PMID 12529443. doi:10.1091/mbc.E02-08-0484 - Mungall AJ, Palmer SA, Sims SK, et al. (2003). «The DNA sequence and analysis of human chromosome 6.». Nature. 425 (6960): 805–11. PMID 14574404. doi:10.1038/nature02055
- 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. PMID 14702039. doi:10.1038/ng1285
- 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. PMC 528928
. PMID 15489334. doi:10.1101/gr.2596504 - 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. PMID 16189514. doi:10.1038/nature04209
- 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. PMC 2760128
. PMID 16205629. doi:10.1038/sj.onc.1209156 - 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. PMID 16342280. doi:10.1002/ajmg.b.30243
- 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. PMC 1464365
. PMID 16641098. doi:10.1073/pnas.0601213103 - 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. PMID 16713569. doi:10.1016/j.cell.2006.03.032
- 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. PMID 17012699. doi:10.1176/ajp.2006.163.10.1834
- 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. PMID 17079655. doi:10.1523/JNEUROSCI.2677-06.2006
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