QKI

QKI
Estruturas disponíveis
PDB	Pesquisa Human UniProt: PDBe RCSB
Lista de códigos id do PDB
	4JVH
Identificadores
Nomes alternativos	QKI
IDs externos	OMIM: 609590 HomoloGene: 11059 GeneCards: QKI
Ontologia genética
Função molecular	• SH3 domain binding; • GO:0001948, GO:0016582 ligação a proteínas plasmáticas; • nucleic acid binding; • mRNA binding; • RNA binding;
Componente celular	• citoplasma; • núcleo celular; • sinapse;
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;
	Sources:Amigo / QuickGO
Padrão de expressão RNA
	; ; ; ;
	Mais dados de referência de expressão
Ortólogos
	9444
	n/a
	ENSG00000112531
	n/a
	Q96PU8
	n/a
	NM_001301085; NM_006775; NM_206853; NM_206854; NM_206855
	n/a
	NP_001288014; NP_006766; NP_996735; NP_996736; NP_996737
	n/a
	Wikidata
Ver/Editar Humano

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

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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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[1] «Human PubMed Reference:»

[entrez-2] «Entrez Gene: QKI quaking homolog, KH domain RNA binding (mouse)»

[pmid10535969-3] 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

[pmid9433137-4] 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

[pmid9671495-5] 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

[pmid10332027-6] 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

[pmid12549823-7] 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

[8] 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

[9] 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

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