NOP53 (NOP53 ribosome biogenesis factor)

Gene

• Entrez ID: 29997
• Gene name: NOP53 ribosome biogenesis factor
• Gene symbol: NOP53
• Synonyms (NCBI Gene): GLTSCR2, PICT-1, PICT1
• Chromosome: 19
• Chromosome location: 19q13.33

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT635930	hsa-miR-548ac	HITS-CLIP	23824327
MIRT635929	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT635928	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT635927	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT635926	hsa-miR-548z	HITS-CLIP	23824327
MIRT635925	hsa-miR-548aa	HITS-CLIP	23824327
MIRT635924	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT635923	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT635922	hsa-miR-3617-5p	HITS-CLIP	23824327
MIRT635921	hsa-miR-641	HITS-CLIP	23824327
MIRT635920	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT635919	hsa-miR-4457	HITS-CLIP	23824327
MIRT635918	hsa-miR-125b-2-3p	HITS-CLIP	23824327
MIRT635917	hsa-miR-513b-5p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000027	Process	Ribosomal large subunit assembly	IBA
GO:0000027	Process	Ribosomal large subunit assembly	IMP	24120868
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	25956029
GO:0001650	Component	Fibrillar center	IDA	27729611
GO:0001932	Process	Regulation of protein phosphorylation	IMP	15355975
GO:0002039	Function	P53 binding	IPI	22522597
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	15355975, 20042497, 21167305, 24556985, 25956029, 26618866, 27323397, 27729611, 27824081, 27829214, 28514442, 31694235, 32296183, 32867128, 33961781, 35156780
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	22522597, 24923447, 27323397
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	20042497, 22522597, 24923447, 25956029, 27323397, 27829214
GO:0005730	Component	Nucleolus	IEA
GO:0005829	Component	Cytosol	IDA	24923447
GO:0006281	Process	DNA repair	IMP	21741933
GO:0006364	Process	RRNA processing	IBA
GO:0006974	Process	DNA damage response	IMP	27829214
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IMP	21741933
GO:0008097	Function	5S rRNA binding	IBA
GO:0008097	Function	5S rRNA binding	IDA	24120868
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IMP	25956029
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	22522597
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	25818168, 27323397
GO:0033553	Component	RDNA heterochromatin	IDA	27729611
GO:0039535	Process	Regulation of RIG-I signaling pathway	IMP	27824081
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042802	Function	Identical protein binding	IDA	24735870
GO:0042981	Process	Regulation of apoptotic process	IMP	21167305
GO:0050821	Process	Protein stabilization	IMP	15355975
GO:0051726	Process	Regulation of cell cycle	IMP	21167305
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	16971513, 27729611
GO:0071456	Process	Cellular response to hypoxia	IMP	22522597
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	IMP	22522597, 24120868, 24556985, 27829214
GO:1901797	Process	Negative regulation of signal transduction by p53 class mediator	IEA
GO:1901837	Process	Negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	27729611
GO:1902570	Process	Protein localization to nucleolus	IEA
GO:1903006	Process	Positive regulation of protein K63-linked deubiquitination	IMP	27824081
GO:1903715	Process	Regulation of aerobic respiration	IMP	24556985
GO:1990173	Process	Protein localization to nucleoplasm	IMP	25818168, 27323397

Other IDs

• MIM: 605691
• HGNC: 4333
• e!Ensembl: ENSG00000105373

Protein

• UniProt ID: Q9NZM5
• Protein name: Ribosome biogenesis protein NOP53 (Glioma tumor suppressor candidate region gene 2 protein) (Protein interacting with carboxyl terminus 1) (PICT-1) (p60)
• Protein function: Nucleolar protein which is involved in the integration of the 5S RNP into the ribosomal large subunit during ribosome biogenesis (PubMed:24120868). In ribosome biogenesis, may also play a role in rRNA transcription (PubMed:27729611). Also functi
• PDB: 8FKZ, 8FL2, 8FL3, 8FL4, 8FL6, 8FL7, 8FLA, 8FLB, 8FLD, 8FLE, 8INE, 8INF, 8IPX, 8IPY, 8IR3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07767	Nop53	41 → 445	Nop53 (60S ribosomal biogenesis)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at high levels in heart and pancreas, moderate levels in placenta, liver, skeletal muscle, and kidney, and low levels in brain and lung. {ECO:0000269|PubMed:10708517}.
• Sequence:

  MAAGGSGVGGKRSSKSDADSGFLGLRPTSVDPALRRRRRGPRNKKRGWRRLAQEPLGLEV
  DQFLEDVRLQERTSGGLLSEAPNEKLFFVDTGSKEKGLTKKRTKVQKKSLLLKKPLRVDL
  ILENTSKVPAPKDVLAHQVPNAKKLRRKEQLWEKLAKQGELPREVRRAQARLLNPSATRA
  KPGPQDTVERPFYDLWASDNPLDRPLVGQDEFFLEQTKKKGVKRPARLHTKPSQAPAVEV
  APAGASYNPSFEDHQTLLSAAHEVELQRQKEAEKLERQLALPATEQAATQESTFQELCEG
  LLEESDGEGEPGQGEGPEAGDAEVCPTPARLATTEKKTEQQRRREKAVHRLRVQQAALRA
  ARLRHQELFRLRGIKAQVALRLAELARRQRRRQARREAEADKPRRLGRLKYQAPDIDVQL
  SSELTDSLRTLKPEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFREIQL

• Sequence length: 478

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	23920125		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	19428804		★☆☆☆☆ Found in Text Mining only
Atypical Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	29617699		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27394663		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18729076		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24054033, 29103029, 29552132		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22292050, 27323397	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	27996172		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	23942755		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24054033		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25118835, 25818168, 27996172		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	25118835, 25818168		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	8390539		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26724143		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	23273104		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	10997688		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	8660983, 8792829		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29617699		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Thyroid cancer	Pubtator	31703244	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18729076, 20185249, 21167305, 22850112		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	18729076		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22850112	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20185249, 21167305, 22850112		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	15834925	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16212814, 24054033, 27357325		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16212814	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	31178742		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22850112	Inhibit	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	24054033		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29285302		★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	BEFREE	28406931		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23532381		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30503506		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24054033, 29103029, 29552132		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29617699		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23920125, 29552132		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24045667		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23109837, 25118835, 26724143		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25118835, 25818168		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	9840926		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16971513, 18729076, 20185249, 21167305, 21804542, 23920125, 23942755, 24054033, 25118835, 26724143, 27729611, 27996172, 29103029, 29617699		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16971513		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23345134		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	21804542		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	19849863	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	29552132		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26724143		★☆☆☆☆ Found in Text Mining only
Sacral defect and anterior sacral meningocele	Sacral defect	Pubtator	28007035	Associate	★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Seborrheic keratosis	Seborrheic keratosis	BEFREE	20185249		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23942755		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	17543081		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24045667		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24045667	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25818168, 34166715	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	21804542		★☆☆☆☆ Found in Text Mining only