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NOP53 (ribosome biogenesis factor)

Written2008-10Tomohiko Maehama
Department of Biochemistry, Cell Biology, National Institute of Infectious Diseases, Shinjuku-ku, Tokyo 162-8640, Japan

(Note : for Links provided by Atlas : click)

Identity

Other aliasGLTSCR2 (glioma tumor suppressor candidate region gene 2)
PICT-1
PICT1
p60
LocusID (NCBI) 29997
Atlas_Id 40723
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at and ends at bp from pter
Local_order Between D19S1160 and D19S1156
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

DNA/RNA

Description The GLTSCR2 gene comprises 13 exons resulting in a transcript of 1567 bases. The start codon is in the 1st exon; the stop codon is in the 13th exon. Northern blot analysis shows a 1.5-kb transcript.
Transcription mRNA: ubiquitously
Pseudogene Not known

Protein

Description 478 amino acids. GLTSCR2 protein contains a putative PEST sequence (PEST score: +7.23, aa: 279-332) and a potential nuclear localization signal (aa: 378-386).
Localisation Nucleolus
Function GLTSCR2 protein binds to PTEN tumor suppressor and regulates its stability in cells. Recent reports show the implication of GLTSCR2 in cell proliferation and apoptosis.
Homology GLTSCR2 orthologs can be found in metazoans. In addition, GLTSCR2 protein shares homology with yeast Nop53p which is involved in ribosome biogenesis.

Mutations

Note There are several synonymous and nonsynonymous SNPs reported for GLTSCR2 (S16R, Q169E, C325F, A383V, Q389R).

Implicated in

Note
  
Entity Cancer
Note A number of groups have proven that the 19q13.32 locus where GLTSCR2 gene locates is frequently altered in glioma and neuroblastoma; however, a tumor suppressor gene(s) specifically encoded in this region has yet to be identified and the implication of GLTSCR2 gene in these tumors remains controversial. Recent studies show aberrations in GLTSCR2 expression in glioblastoma and neuroblastoma.
  

Bibliography

Transcript map of the 3.7-Mb D19S112-D19S246 candidate tumor suppressor region on the long arm of chromosome 19.
Hartmann C, Johnk L, Kitange G, Wu Y, Ashworth LK, Jenkins RB, Louis DN.
Cancer Res. 2002 Jul 15;62(14):4100-8.
PMID 12124348
 
A screen of shRNAs targeting tumor suppressor genes to identify factors involved in A549 paclitaxel sensitivity.
Ji D, Deeds SL, Weinstein EJ.
Oncol Rep. 2007 Dec;18(6):1499-505.
PMID 17982636
 
Suppression of putative tumour suppressor gene GLTSCR2 expression in human glioblastomas.
Kim YJ, Cho YE, Kim YW, Kim JY, Lee S, Park JH.
J Pathol. 2008 Oct;216(2):218-24.
PMID 18729076
 
The tumour suppressor PTEN: involvement of a tumour suppressor candidate protein in PTEN turnover.
Maehama T, Okahara F, Kanaho Y.
Biochem Soc Trans. 2004 Apr;32(Pt 2):343-7. (Review)
PMID 15046605
 
Loss of heterozygosity at 19q13.3 is associated with locally aggressive neuroblastoma.
Mora J, Cheung NK, Chen L, Qin J, Gerald W.
Clin Cancer Res. 2001 May;7(5):1358-61.
PMID 11350906
 
Critical role of PICT-1, a tumor suppressor candidate, in phosphatidylinositol 3,4,5-trisphosphate signals and tumorigenic transformation.
Okahara F, Itoh K, Nakagawara A, Murakami M, Kanaho Y, Maehama T.
Mol Biol Cell. 2006 Nov;17(11):4888-95. Epub 2006 Sep 13.
PMID 16971513
 
A transcript map of the chromosome 19q-arm glioma tumor suppressor region.
Smith JS, Tachibana I, Pohl U, Lee HK, Thanarajasingam U, Portier BP, Ueki K, Ramaswamy S, Billings SJ, Mohrenweiser HW, Louis DN, Jenkins RB.
Genomics. 2000 Feb 15;64(1):44-50.
PMID 10708517
 
The putative tumor suppressor gene GLTSCR2 induces PTEN-modulated cell death.
Yim JH, Kim YJ, Ko JH, Cho YE, Kim SM, Kim JY, Lee S, Park JH.
Cell Death Differ. 2007 Nov;14(11):1872-9. Epub 2007 Jul 27.
PMID 17657248
 

Citation

This paper should be referenced as such :
Maehama, T
GLTSCR2 (glioma tumor suppressor candidate region gene 2)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(9):624-625.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/GLTSCR2ID40723ch19q13.html


External links

Nomenclature
Cards
AtlasGLTSCR2ID40723ch19q13.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)29997
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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