Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8996
Gene name	Nucleolar protein 3
Gene symbol	NOL3
Synonyms (NCBI Gene)	ARCFCMMYOCL1MYPNOPNOP30
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

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

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miRTarBase ID	miRNA	Experiments
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

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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

MIM	HGNC	e!Ensembl
605235	7869	ENSG00000140939

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

Interactions

View interactions

	KEGG
	Apoptosis

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Myoclonus, familial	Uncertain significance	rs766843875	RCV005362263
Myoclonus, familial, 1	Uncertain significance	rs755455245, rs397514600	RCV001335800 RCV000033024
NOL3-related disorder	Uncertain significance; Benign; Likely benign	rs2507097117, rs199980306, rs764161123, rs2233459, rs1234246359, rs2233460, rs745782808, rs2233455	RCV003397715 RCV003961794 RCV003949740 RCV003914741 RCV003976858 RCV003959461 RCV003966814 RCV003981335

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinogenesis	Associate	22363440
Carcinoma Hepatocellular	Associate	24592541
Cardiomyopathy Hypertrophic	Associate	23860040
Colonic Neoplasms	Associate	36273131
Colorectal Neoplasms	Associate	22363440, 38166604
Glioblastoma	Associate	28035070
Glioma	Associate	28035070
Leukemia Myeloid Acute	Associate	19490757
Migraine Disorders	Associate	34380431
Neoplasms	Associate	10845252
Wiskott Aldrich Syndrome	Associate	12149199

NOL3 (nucleolar protein 3)