NOL3 (nucleolar protein 3)

Gene

• Entrez ID: 8996
• Gene name: Nucleolar protein 3
• Gene symbol: NOL3
• Synonyms (NCBI Gene): ARC, FCM, MYOCL1, MYP, NOP, NOP30
• Chromosome: 16
• Chromosome location: 16q22.1
• Summary: This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefS

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397514600	G>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1188537	hsa-miR-1203	CLIP-seq
MIRT1188538	hsa-miR-1226	CLIP-seq
MIRT1188539	hsa-miR-1243	CLIP-seq
MIRT1188540	hsa-miR-1247	CLIP-seq
MIRT1188541	hsa-miR-1255a	CLIP-seq
MIRT1188542	hsa-miR-1255b	CLIP-seq
MIRT1188543	hsa-miR-1263	CLIP-seq
MIRT1188544	hsa-miR-1322	CLIP-seq
MIRT1188545	hsa-miR-147	CLIP-seq
MIRT1188546	hsa-miR-1470	CLIP-seq
MIRT1188547	hsa-miR-185	CLIP-seq
MIRT1188548	hsa-miR-2113	CLIP-seq
MIRT1188549	hsa-miR-224	CLIP-seq
MIRT1188550	hsa-miR-24	CLIP-seq
MIRT1188551	hsa-miR-3122	CLIP-seq
MIRT1188552	hsa-miR-3160-3p	CLIP-seq
MIRT1188553	hsa-miR-3170	CLIP-seq
MIRT1188554	hsa-miR-339-3p	CLIP-seq
MIRT1188555	hsa-miR-3670	CLIP-seq
MIRT1188556	hsa-miR-369-3p	CLIP-seq
MIRT1188557	hsa-miR-374a	CLIP-seq
MIRT1188558	hsa-miR-374b	CLIP-seq
MIRT1188559	hsa-miR-3911	CLIP-seq
MIRT1188560	hsa-miR-3913-5p	CLIP-seq
MIRT1188561	hsa-miR-3924	CLIP-seq
MIRT1188562	hsa-miR-3925-3p	CLIP-seq
MIRT1188563	hsa-miR-3940-5p	CLIP-seq
MIRT1188564	hsa-miR-3944-5p	CLIP-seq
MIRT1188565	hsa-miR-3976	CLIP-seq
MIRT1188566	hsa-miR-3978	CLIP-seq
MIRT1188567	hsa-miR-4281	CLIP-seq
MIRT1188568	hsa-miR-4284	CLIP-seq
MIRT1188569	hsa-miR-4306	CLIP-seq
MIRT1188570	hsa-miR-4417	CLIP-seq
MIRT1188571	hsa-miR-4470	CLIP-seq
MIRT1188572	hsa-miR-4480	CLIP-seq
MIRT1188573	hsa-miR-4487	CLIP-seq
MIRT1188574	hsa-miR-4506	CLIP-seq
MIRT1188575	hsa-miR-4507	CLIP-seq
MIRT1188576	hsa-miR-450b-3p	CLIP-seq
MIRT1188577	hsa-miR-4515	CLIP-seq
MIRT1188578	hsa-miR-4517	CLIP-seq
MIRT1188579	hsa-miR-4644	CLIP-seq
MIRT1188580	hsa-miR-4677-3p	CLIP-seq
MIRT1188581	hsa-miR-4685-5p	CLIP-seq
MIRT1188582	hsa-miR-4713-3p	CLIP-seq
MIRT1188583	hsa-miR-4726-3p	CLIP-seq
MIRT1188584	hsa-miR-4728-3p	CLIP-seq
MIRT1188585	hsa-miR-4729	CLIP-seq
MIRT1188586	hsa-miR-4733-3p	CLIP-seq
MIRT1188587	hsa-miR-541	CLIP-seq
MIRT1188588	hsa-miR-558	CLIP-seq
MIRT1188589	hsa-miR-579	CLIP-seq
MIRT1188590	hsa-miR-599	CLIP-seq
MIRT1188591	hsa-miR-638	CLIP-seq
MIRT1188592	hsa-miR-644	CLIP-seq
MIRT1188593	hsa-miR-654-5p	CLIP-seq
MIRT1188594	hsa-miR-656	CLIP-seq
MIRT1188595	hsa-miR-663b	CLIP-seq
MIRT1188596	hsa-miR-664	CLIP-seq
MIRT1188597	hsa-miR-766	CLIP-seq
MIRT1188598	hsa-miR-769-3p	CLIP-seq
MIRT1188548	hsa-miR-2113	CLIP-seq
MIRT1188549	hsa-miR-224	CLIP-seq
MIRT1188554	hsa-miR-339-3p	CLIP-seq
MIRT1188565	hsa-miR-3976	CLIP-seq
MIRT1188599	hsa-miR-4420	CLIP-seq
MIRT1188590	hsa-miR-599	CLIP-seq
MIRT1188538	hsa-miR-1226	CLIP-seq
MIRT1188545	hsa-miR-147	CLIP-seq
MIRT2054580	hsa-miR-204	CLIP-seq
MIRT2054581	hsa-miR-211	CLIP-seq
MIRT2054582	hsa-miR-3618	CLIP-seq
MIRT1188559	hsa-miR-3911	CLIP-seq
MIRT1188568	hsa-miR-4284	CLIP-seq
MIRT1188584	hsa-miR-4728-3p	CLIP-seq
MIRT1188586	hsa-miR-4733-3p	CLIP-seq
MIRT2054583	hsa-miR-4761-5p	CLIP-seq
MIRT2054584	hsa-miR-544	CLIP-seq
MIRT1188592	hsa-miR-644	CLIP-seq
MIRT1188595	hsa-miR-663b	CLIP-seq
MIRT2054585	hsa-miR-767-3p	CLIP-seq
MIRT2054586	hsa-miR-934	CLIP-seq
MIRT2391625	hsa-miR-3199	CLIP-seq
MIRT2391626	hsa-miR-4257	CLIP-seq
MIRT2391627	hsa-miR-4292	CLIP-seq
MIRT2391628	hsa-miR-4308	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0003723	Function	RNA binding	TAS	10196175
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005123	Function	Death receptor binding	IBA
GO:0005123	Function	Death receptor binding	IEA
GO:0005509	Function	Calcium ion binding	IMP	15509781
GO:0005515	Function	Protein binding	IPI	10196175, 15004034, 18087040, 18245485, 21044950, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA	10196175
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	TAS	10196175
GO:0005737	Component	Cytoplasm	IDA	10196175
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	TAS	10196175
GO:0006376	Process	MRNA splice site recognition	IDA	10196175
GO:0006397	Process	MRNA processing	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	10196175
GO:0009968	Process	Negative regulation of signal transduction	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010659	Process	Cardiac muscle cell apoptotic process	IEA
GO:0010664	Process	Negative regulation of striated muscle cell apoptotic process	IEA
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0010804	Process	Negative regulation of tumor necrosis factor-mediated signaling pathway	IEA
GO:0014736	Process	Negative regulation of muscle atrophy	IEA
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA	15509781
GO:0014876	Process	Response to injury involved in regulation of muscle adaptation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016528	Component	Sarcoplasm	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0035877	Function	Death effector domain binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043027	Function	Cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IBA
GO:0043027	Function	Cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IDA	9560245
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	15509781
GO:0043066	Process	Negative regulation of apoptotic process	TAS	9560245
GO:0046872	Function	Metal ion binding	IEA
GO:0051259	Process	Protein complex oligomerization	IDA	10196175
GO:0062099	Process	Negative regulation of programmed necrotic cell death	IEA
GO:0089720	Function	Caspase binding	IBA
GO:0089720	Function	Caspase binding	IPI	9560245, 15509781
GO:0090201	Process	Negative regulation of release of cytochrome c from mitochondria	IBA
GO:0090201	Process	Negative regulation of release of cytochrome c from mitochondria	IDA	15004034
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IEA
GO:1901222	Process	Regulation of non-canonical NF-kappaB signal transduction	IEA
GO:1902109	Process	Negative regulation of mitochondrial membrane permeability involved in apoptotic process	IEA
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IDA	15004034
GO:1902531	Process	Regulation of intracellular signal transduction	IEA
GO:1903298	Process	Negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	ISS
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IBA
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IDA	9560245
GO:2001243	Process	Negative regulation of intrinsic apoptotic signaling pathway	IBA

Other IDs

• MIM: 605235
• HGNC: 7869
• e!Ensembl: ENSG00000140939

Protein

• UniProt ID: O60936
• Protein name: Nucleolar protein 3 (Apoptosis repressor with CARD) (Muscle-enriched cytoplasmic protein) (Myp) (Nucleolar protein of 30 kDa) (Nop30)
• Protein function: [Isoform 1]: May be involved in RNA splicing. ; [Isoform 2]: Functions as an apoptosis repressor that blocks multiple modes of cell death. Inhibits extrinsic apoptotic pathways through two different ways.
• PDB: 4UZ0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00619	CARD	9 → 96	Caspase recruitment domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart and skeletal muscle. Detected at low levels in placenta, liver, kidney and pancreas.
• Sequence:

  MGNAQERPSETIDRERKRLVETLQADSGLLLDALLARGVLTGPEYEALDALPDAERRVRR
  LLLLVQGKGEAACQELLRCAQRTAGAPDPAWDWQHVGPGYRDRSYDPPCPGHWTPEAPGS
  GTTCPGLPRASDPDEAGGPEGSEAVQSGTPEEPEPELEAEASKEAEPEPEPEPELEPEAE
  AEPEPELEPEPDPEPEPDFEERDESEDS

• Sequence length: 208

Pathways

KEGG:

Apoptosis

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
MIGRAINE WITH AURA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonus, familial	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonus, familial, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NOL3-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	23680867		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28475275		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	30283336		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26756419		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	3488007		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22037876, 22906635		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	20661666		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22363440	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24592541	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	23860040	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	23860040		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29107702		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18469522		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36273131	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	7571041		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22363440, 38166604	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29931693		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19076291		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31680765		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28765602		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31315540		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	LHGDN	15861191		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	29232769		★☆☆☆☆ Found in Text Mining only
Electron Transport Chain Deficiencies, Mitochondrial	Mitochondrial Electron Transport Chain Deficiencies	CTD_human_DG	19139834		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29888640		★☆☆☆☆ Found in Text Mining only
Familial cortical myoclonus	Cortical Myoclonus	Orphanet			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28035070	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28035070	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	9369423		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	23860040		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	23860040		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29107702		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30456520		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	30456520		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	7758996		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19490757	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25079338		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	31680765		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	9508509		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	28475275		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	7758996		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	3001489		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22037876, 22906635, 8082481		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29888640		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	8424898		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19738619		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31024840, 8082481		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31680765		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34380431	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	CTD_human_DG	19139834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	CTD_human_DG	19139834		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	30142397		★☆☆☆☆ Found in Text Mining only
MYOCLONUS, FAMILIAL CORTICAL	Myoclonus	BEFREE	22926851		★☆☆☆☆ Found in Text Mining only
MYOCLONUS, FAMILIAL CORTICAL	Myoclonus	UNIPROT_DG	22926851, 25138476		★☆☆☆☆ Found in Text Mining only
MYOCLONUS, FAMILIAL CORTICAL	Myoclonus	ORPHANET_DG	22926851		★☆☆☆☆ Found in Text Mining only
MYOCLONUS, FAMILIAL CORTICAL	Myoclonus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	9840527		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10720852, 10841287, 1728376, 17393986, 18350379, 22037876, 22056554, 2921136, 7571041, 7979192, 9023385		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	29693124		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18286384, 23715695, 26235542		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31024840		★☆☆☆☆ Found in Text Mining only
Oxidative Phosphorylation Deficiencies	Oxidative Phosphorylation Deficiency	CTD_human_DG	19139834		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26687234, 29232769		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	30430777		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30670988, 30954231		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28475275		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	27784538		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	8424898		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18516683		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19076291		★☆☆☆☆ Found in Text Mining only
SMALL PATELLA SYNDROME	SMALL PATELLA SYNDROME	BEFREE	30670988		★☆☆☆☆ Found in Text Mining only
Stiff-Person Syndrome	Stiff-Person Syndrome	BEFREE	30670988		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19738619		★☆☆☆☆ Found in Text Mining only
Stress Disorders, Traumatic	Stress Disorder	BEFREE	28704271		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	3488007		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	8102536		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29215701		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	10878391, 11290809, 12149199		★☆☆☆☆ Found in Text Mining only