NOP53 (ribosome biogenesis factor)
2008-10-01 Tomohiko Maehama AffiliationDepartment of Biochemistry, Cell Biology, National Institute of Infectious Diseases, Shinjuku-ku, Tokyo 162-8640, Japan
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
Proteins
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
Entity name
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12124348 | 2002 | Transcript map of the 3.7-Mb D19S112-D19S246 candidate tumor suppressor region on the long arm of chromosome 19. | Hartmann C et al |
| 17982636 | 2007 | A screen of shRNAs targeting tumor suppressor genes to identify factors involved in A549 paclitaxel sensitivity. | Ji D et al |
| 18729076 | 2008 | Suppression of putative tumour suppressor gene GLTSCR2 expression in human glioblastomas. | Kim YJ et al |
| 15046605 | 2004 | The tumour suppressor PTEN: involvement of a tumour suppressor candidate protein in PTEN turnover. | Maehama T et al |
| 11350906 | 2001 | Loss of heterozygosity at 19q13.3 is associated with locally aggressive neuroblastoma. | Mora J et al |
| 16971513 | 2006 | Critical role of PICT-1, a tumor suppressor candidate, in phosphatidylinositol 3,4,5-trisphosphate signals and tumorigenic transformation. | Okahara F et al |
| 10708517 | 2000 | A transcript map of the chromosome 19q-arm glioma tumor suppressor region. | Smith JS et al |
| 17657248 | 2007 | The putative tumor suppressor gene GLTSCR2 induces PTEN-modulated cell death. | Yim JH et al |
Other Information
Locus ID:
NCBI: 29997
MIM: 605691
HGNC: 4333
Ensembl: ENSG00000105373
Variants:
dbSNP: 29997
ClinVar: 29997
TCGA: ENSG00000105373
COSMIC: NOP53
RNA/Proteins
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Herpes simplex infection | KEGG | ko05168 |
| Herpes simplex infection | KEGG | hsa05168 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36403484 | 2022 | MTR4 adaptor PICT1 functions in two distinct steps during pre-rRNA processing. | 0 |
| 36403484 | 2022 | MTR4 adaptor PICT1 functions in two distinct steps during pre-rRNA processing. | 0 |
| 34166715 | 2021 | PICT1 is critical for regulating the Rps27a-Mdm2-p53 pathway by microtubule polymerization inhibitor against cervical cancer. | 4 |
| 34166715 | 2021 | PICT1 is critical for regulating the Rps27a-Mdm2-p53 pathway by microtubule polymerization inhibitor against cervical cancer. | 4 |
| 30421090 | 2020 | Downregulation of NOP53 Ribosome Biogenesis Factor Leads to Abnormal Nuclear Division and Chromosomal Instability in Human Cervical Cancer Cells. | 11 |
| 30421090 | 2020 | Downregulation of NOP53 Ribosome Biogenesis Factor Leads to Abnormal Nuclear Division and Chromosomal Instability in Human Cervical Cancer Cells. | 11 |
| 31703244 | 2019 | NOP53 as A Candidate Modifier Locus for Familial Non-Medullary Thyroid Cancer. | 11 |
| 31703244 | 2019 | NOP53 as A Candidate Modifier Locus for Familial Non-Medullary Thyroid Cancer. | 11 |
| 29617699 | 2018 | Abnormal Expression of PICT-1 and Its Codon 389 Polymorphism Is a Risk Factor for Human Endometrial Cancer. | 3 |
| 29677136 | 2018 | Cytoplasmic Translocation of Nucleolar Protein NOP53 Promotes Viral Replication by Suppressing Host Defense. | 2 |
| 29617699 | 2018 | Abnormal Expression of PICT-1 and Its Codon 389 Polymorphism Is a Risk Factor for Human Endometrial Cancer. | 3 |
| 29677136 | 2018 | Cytoplasmic Translocation of Nucleolar Protein NOP53 Promotes Viral Replication by Suppressing Host Defense. | 2 |
| 27996172 | 2017 | The protein interacting with carboxyl terminus-1 codon 389 polymorphism impairs protein interacting with carboxyl terminus-1 function and is a risk factor for uterine cervical cancer. | 1 |
| 27996172 | 2017 | The protein interacting with carboxyl terminus-1 codon 389 polymorphism impairs protein interacting with carboxyl terminus-1 function and is a risk factor for uterine cervical cancer. | 1 |
| 26724143 | 2016 | Suppression of GLTSCR2 expression in renal cell carcinomas. | 1 |
Citation
Tomohiko Maehama
NOP53 (ribosome biogenesis factor)
Atlas Genet Cytogenet Oncol Haematol. 2008-10-01
Online version: http://atlasgeneticsoncology.org/gene/40723/nop53
