NOP53 (ribosome biogenesis factor)

2008-10-01   Tomohiko Maehama 

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

Identity

HGNC
NOP53
LOCATION
19q13.33
LOCUSID
29997
ALIAS
GLTSCR2,PICT-1,PICT1

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.

Bibliography

Pubmed IDLast YearTitleAuthors
121243482002Transcript map of the 3.7-Mb D19S112-D19S246 candidate tumor suppressor region on the long arm of chromosome 19.Hartmann C et al
179826362007A screen of shRNAs targeting tumor suppressor genes to identify factors involved in A549 paclitaxel sensitivity.Ji D et al
187290762008Suppression of putative tumour suppressor gene GLTSCR2 expression in human glioblastomas.Kim YJ et al
150466052004The tumour suppressor PTEN: involvement of a tumour suppressor candidate protein in PTEN turnover.Maehama T et al
113509062001Loss of heterozygosity at 19q13.3 is associated with locally aggressive neuroblastoma.Mora J et al
169715132006Critical role of PICT-1, a tumor suppressor candidate, in phosphatidylinositol 3,4,5-trisphosphate signals and tumorigenic transformation.Okahara F et al
107085172000A transcript map of the chromosome 19q-arm glioma tumor suppressor region.Smith JS et al
176572482007The 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

Gene IDTranscript IDUniprot
ENSG00000105373ENST00000246802Q9NZM5
ENSG00000105373ENST00000594182M0QZU5
ENSG00000105373ENST00000595143M0QX73
ENSG00000105373ENST00000597985M0QZ34
ENSG00000105373ENST00000598959M0QYZ9

Pathways

PathwaySourceExternal ID
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
218045422011Regulation of the MDM2-P53 pathway and tumor growth by PICT1 via nucleolar RPL11.71
176572482007The putative tumor suppressor gene GLTSCR2 induces PTEN-modulated cell death.26
169715132006Critical role of PICT-1, a tumor suppressor candidate, in phosphatidylinositol 3,4,5-trisphosphate signals and tumorigenic transformation.24
187290762008Suppression of putative tumour suppressor gene GLTSCR2 expression in human glioblastomas.19
225225972012Nucleolar protein GLTSCR2 stabilizes p53 in response to ribosomal stresses.19
200424972010GLTSCR2/PICT-1, a putative tumor suppressor gene product, induces the nucleolar targeting of the Kaposi's sarcoma-associated herpesvirus KS-Bcl-2 protein.11
217419332011Involvement of GLTSCR2 in the DNA Damage Response.11
240456672013PICT1 regulates TP53 via RPL11 and is involved in gastric cancer progression.11
245569852014GLTSCR2/PICT1 links mitochondrial stress and Myc signaling.11
222920502012Nucleolar localization of GLTSCR2/PICT-1 is mediated by multiple unique nucleolar localization sequences.10

Citation

Tomohiko Maehama

NOP53 (ribosome biogenesis factor)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/40723/nop53