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Aliases for NOL3 Gene

Aliases for NOL3 Gene

  • Nucleolar Protein 3 2 3 5
  • Nucleolar Protein 3 (Apoptosis Repressor With CARD Domain) 2 3
  • Muscle-Enriched Cytoplasmic Protein 3 4
  • Nucleolar Protein Of 30 KDa 3 4
  • NOP30 3 4
  • MYP 3 4
  • ARC 3 4
  • NOP 3 4
  • Apoptosis Repressor With CARD 4
  • FCM 3

External Ids for NOL3 Gene

Previous GeneCards Identifiers for NOL3 Gene

  • GC16P057902
  • GC16P067585
  • GC16P066943
  • GC16P066984
  • GC16P065765
  • GC16P053077

Summaries for NOL3 Gene

Entrez Gene Summary for NOL3 Gene

  • 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 RefSeq, Jun 2010]

GeneCards Summary for NOL3 Gene

NOL3 (Nucleolar Protein 3) is a Protein Coding gene. Diseases associated with NOL3 include Myoclonus, Familial Cortical and Myoclonus. Among its related pathways are Apoptosis and Autophagy and Apoptosis - multiple species. GO annotations related to this gene include calcium ion binding and RNA binding.

UniProtKB/Swiss-Prot for NOL3 Gene

  • 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. Firstly by interacting with FAS and FADD upon FAS activation blocking death-inducing signaling complex (DISC) assembly (By similarity). Secondly by interacting with CASP8 in a mitochondria localization- and phosphorylation-dependent manner, limiting the amount of soluble CASP8 available for DISC-mediated activation (By similarity). Inhibits intrinsic apoptotic pathway in response to a wide range of stresses, through its interaction with BAX resulting in BAX inactivation, preventing mitochondrial dysfunction and release of pro-apoptotic factors (PubMed:15004034). Inhibits calcium-mediated cell death by functionning as a cytosolic calcium buffer, dissociating its interaction with CASP8 and maintaining calcium homeostasis (PubMed:15509781). Negatively regulates oxidative stress-induced apoptosis by phosphorylation-dependent suppression of the mitochondria-mediated intrinsic pathway, by blocking CASP2 activation and BAX translocation (By similarity). Negatively regulates hypoxia-induced apoptosis in part by inhibiting the release of cytochrome c from mitochondria in a caspase-independent manner (By similarity). Also inhibits TNF-induced necrosis by preventing TNF-signaling pathway through TNFRSF1A interaction abrogating the recruitment of RIPK1 to complex I (By similarity). Finally through its role as apoptosis repressor, promotes vascular remodeling through inhibition of apoptosis and stimulation of proliferation, in response to hypoxia (By similarity). Inhibits too myoblast differentiation through caspase inhibition (By similarity).

Gene Wiki entry for NOL3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOL3 Gene

Genomics for NOL3 Gene

Regulatory Elements for NOL3 Gene

Enhancers for NOL3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NOL3 on UCSC Golden Path with GeneCards custom track

Promoters for NOL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NOL3 on UCSC Golden Path with GeneCards custom track

Genomic Location for NOL3 Gene

Chromosome:
16
Start:
67,170,154 bp from pter
End:
67,175,737 bp from pter
Size:
5,584 bases
Orientation:
Plus strand

Genomic View for NOL3 Gene

Genes around NOL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOL3 Gene

Proteins for NOL3 Gene

  • Protein details for NOL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60936-NOL3_HUMAN
    Recommended name:
    Nucleolar protein 3
    Protein Accession:
    O60936
    Secondary Accessions:
    • B4DFL0
    • O60937

    Protein attributes for NOL3 Gene

    Size:
    208 amino acids
    Molecular mass:
    22629 Da
    Quaternary structure:
    • Oligomerizes (via CARD doamin). Interacts (via CARD domain) with CASP2; inhibits CASP2 activity in a phosphorylation-dependent manner. Interacts with CASP8; decreases CASP8 activity in a mitochondria localization- and phosphorylation-dependent manner and this interaction is dissociated by calcium. Interacts with TFPT; translocates NOL3 into the nucleus and negatively regulated TFPT-induced cell death (By similarity). Interacts directly (via CARD domain) with FAS and FADD (via DED domain); inhibits death-inducing signaling complex death-inducing signaling complex (DISC) assembly by inhibiting the increase in FAS-FADD binding induced by FAS activation (By similarity). Interacts (via CARD domain) with BAX (via a C-terminal 33 residues); inhibits BAX activation and translocation and consequently cytochrome c release from mitochondria. Interacts with PPM1G; may dephosphorylate NOL3 (By similarity). Interacts (via CARD domain) with BBC3 (via BH3 domain); preventing the association of BBC3 with BCL2 and resulting in activation of CASP8 (By similarity). Interacts (via CARD domain) with BAD(via BH3 domain); preventing the association of BAD with BCL2 (By similarity). Interacts directly (via CARD domain) with TNFRSF1A; inhibits TNF-signaling pathway (By similarity). Isoform 1 binds to SFRS9/SRp30C.

    Three dimensional structures from OCA and Proteopedia for NOL3 Gene

    Alternative splice isoforms for NOL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOL3 Gene

Proteomics data for NOL3 Gene at MOPED

Post-translational modifications for NOL3 Gene

  • Phosphorylation at Thr-149 is required for its antiapoptotic effect by blocking death-inducing signaling complex death-inducing signaling complex (DISC) activity through the control of interaction with CASP8. Phosphorylation at Thr-149 results in translocation to mithochondria and this translocation enables the binding to CASP8. Dephosphorylated at Thr-149 by calcineurin; doesnt inhibit the association between FADD and CASP8 and the consequent apoptosis.
  • Polyubiquitinated by MDM2; promoting proteasomal-dependent degradation in response to apoptotic stimuli.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NOL3 (ARC)

No data available for DME Specific Peptides for NOL3 Gene

Domains & Families for NOL3 Gene

Gene Families for NOL3 Gene

Protein Domains for NOL3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O60936

UniProtKB/Swiss-Prot:

NOL3_HUMAN :
  • CARD is critical for both extrinsic and intrinsic apoptotic pathways (By similarity). CARD domain mediates a protective effect against myocardial ischemia/reperfusion, oxidative stress and TNF-induced necrosis (PubMed:15004034) (By similarity). The calcium binding domain plays a protective role in calcium-mediated cell death (PubMed:15509781).
Domain:
  • CARD is critical for both extrinsic and intrinsic apoptotic pathways (By similarity). CARD domain mediates a protective effect against myocardial ischemia/reperfusion, oxidative stress and TNF-induced necrosis (PubMed:15004034) (By similarity). The calcium binding domain plays a protective role in calcium-mediated cell death (PubMed:15509781).
  • Contains 1 CARD domain.
genes like me logo Genes that share domains with NOL3: view

Function for NOL3 Gene

Molecular function for NOL3 Gene

UniProtKB/Swiss-Prot Function:
Isoform 1: May be involved in RNA splicing.
UniProtKB/Swiss-Prot Function:
Isoform 2: Functions as an apoptosis repressor that blocks multiple modes of cell death. Inhibits extrinsic apoptotic pathways through two different ways. Firstly by interacting with FAS and FADD upon FAS activation blocking death-inducing signaling complex (DISC) assembly (By similarity). Secondly by interacting with CASP8 in a mitochondria localization- and phosphorylation-dependent manner, limiting the amount of soluble CASP8 available for DISC-mediated activation (By similarity). Inhibits intrinsic apoptotic pathway in response to a wide range of stresses, through its interaction with BAX resulting in BAX inactivation, preventing mitochondrial dysfunction and release of pro-apoptotic factors (PubMed:15004034). Inhibits calcium-mediated cell death by functionning as a cytosolic calcium buffer, dissociating its interaction with CASP8 and maintaining calcium homeostasis (PubMed:15509781). Negatively regulates oxidative stress-induced apoptosis by phosphorylation-dependent suppression of the mitochondria-mediated intrinsic pathway, by blocking CASP2 activation and BAX translocation (By similarity). Negatively regulates hypoxia-induced apoptosis in part by inhibiting the release of cytochrome c from mitochondria in a caspase-independent manner (By similarity). Also inhibits TNF-induced necrosis by preventing TNF-signaling pathway through TNFRSF1A interaction abrogating the recruitment of RIPK1 to complex I (By similarity). Finally through its role as apoptosis repressor, promotes vascular remodeling through inhibition of apoptosis and stimulation of proliferation, in response to hypoxia (By similarity). Inhibits too myoblast differentiation through caspase inhibition (By similarity).
UniProtKB/Swiss-Prot Induction:
Protein expression decreases in hearts failure patients (PubMed:16505176) and in response to oxidative stress (PubMed:17142452).

Gene Ontology (GO) - Molecular Function for NOL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0089720 caspase binding IPI 9560245
genes like me logo Genes that share ontologies with NOL3: view
genes like me logo Genes that share phenotypes with NOL3: view

Human Phenotype Ontology for NOL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NOL3 Gene

MGI Knock Outs for NOL3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NOL3 Gene

Localization for NOL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOL3 Gene

Isoform 1: Nucleus, nucleolus. Note=The SR-rich C-terminus mediates nuclear localization. {ECO:0000269 PubMed:10196175}.
Isoform 3: Cytoplasm.
Isoform 2: Cytoplasm. Mitochondrion. Sarcoplasmic reticulum. Membrane; Lipid-anchor. Note=Phosphorylation at Thr-149 results in translocation to mithochondria. Colocalized with mitochondria in response to oxidative stress. {ECO:0000250 UniProtKB:Q62881}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NOL3 Gene COMPARTMENTS Subcellular localization image for NOL3 gene
Compartment Confidence
cytosol 5
mitochondrion 5
nucleus 5
endoplasmic reticulum 3
extracellular 1

Gene Ontology (GO) - Cellular Components for NOL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IEA --
GO:0005829 cytosol TAS 10196175
genes like me logo Genes that share ontologies with NOL3: view

Pathways & Interactions for NOL3 Gene

genes like me logo Genes that share pathways with NOL3: view

Pathways by source for NOL3 Gene

1 Cell Signaling Technology pathway for NOL3 Gene
1 R&D Systems pathway for NOL3 Gene

Gene Ontology (GO) - Biological Process for NOL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0001974 blood vessel remodeling IEA --
GO:0002931 response to ischemia IEA --
GO:0006376 mRNA splice site selection IDA 10196175
GO:0010468 regulation of gene expression IEA --
genes like me logo Genes that share ontologies with NOL3: view

No data available for SIGNOR curated interactions for NOL3 Gene

Drugs & Compounds for NOL3 Gene

(1) Drugs for NOL3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for NOL3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NOL3: view

Transcripts for NOL3 Gene

Unigene Clusters for NOL3 Gene

Nucleolar protein 3 (apoptosis repressor with CARD domain):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NOL3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d
SP1: -
SP2: - - -
SP3: - -
SP4: -
SP5:
SP6: - - - -
SP7:

Relevant External Links for NOL3 Gene

GeneLoc Exon Structure for
NOL3
ECgene alternative splicing isoforms for
NOL3

Expression for NOL3 Gene

mRNA expression in normal human tissues for NOL3 Gene

Protein differential expression in normal tissues from HIPED for NOL3 Gene

This gene is overexpressed in Skin (8.8), Salivary gland (7.7), and Retina (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NOL3 Gene



SOURCE GeneReport for Unigene cluster for NOL3 Gene Hs.513667

mRNA Expression by UniProt/SwissProt for NOL3 Gene

O60936-NOL3_HUMAN
Tissue specificity: Highly expressed in heart and skeletal muscle. Detected at low levels in placenta, liver, kidney and pancreas.
genes like me logo Genes that share expression patterns with NOL3: view

Protein tissue co-expression partners for NOL3 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NOL3 Gene

Orthologs for NOL3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for NOL3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NOL3 35
  • 82.69 (n)
  • 82.04 (a)
NOL3 36
  • 49 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NOL3 35
  • 84.52 (n)
  • 83.33 (a)
NOL3 36
  • 51 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nol3 35
  • 83.67 (n)
  • 87.92 (a)
Nol3 16
Nol3 36
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nol3 35
  • 83 (n)
  • 89.93 (a)
oppossum
(Monodelphis domestica)
Mammalia NOL3 36
  • 31 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NOL3 36
  • 33 (a)
OneToOne
Species with no ortholog for NOL3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NOL3 Gene

ENSEMBL:
Gene Tree for NOL3 (if available)
TreeFam:
Gene Tree for NOL3 (if available)

Paralogs for NOL3 Gene

No data available for Paralogs for NOL3 Gene

Variants for NOL3 Gene

Sequence variations from dbSNP and Humsavar for NOL3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_069731 Myoclonus, familial cortical (FCM)
VAR_072644 Myoclonus, familial cortical (FCM)
rs9927128 -- 67,170,485(+) CTGGC(C/T)GCCCC upstream-variant-2KB
rs78503420 -- 67,173,098(+) CTCAA(A/C)AAAAA intron-variant, upstream-variant-2KB
rs1152083 -- 67,172,472(-) accac(A/G)ctcag intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NOL3 Gene

Variant ID Type Subtype PubMed ID
dgv2885n71 CNV Loss 21882294
nsv906794 CNV Loss 21882294
dgv2886n71 CNV Loss 21882294
dgv2887n71 CNV Loss 21882294
dgv2888n71 CNV Loss 21882294
nsv524363 CNV Loss 19592680
nsv827707 CNV Loss 20364138
nsv906803 CNV Loss 21882294
nsv522852 CNV Gain 19592680
nsv524492 CNV Loss 19592680
nsv471092 CNV Gain 18288195

Variation tolerance for NOL3 Gene

Residual Variation Intolerance Score: 91.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 35.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NOL3 Gene

Human Gene Mutation Database (HGMD)
NOL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOL3 Gene

Disorders for NOL3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NOL3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myoclonus, familial cortical
  • familial cortical myoclonus
myoclonus
pain agnosia
  • analgesia
agnosia
  • alexia
- elite association - COSMIC cancer census association via MalaCards
Search NOL3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NOL3_HUMAN
  • Myoclonus, familial cortical (FCM) [MIM:614937]: An autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness. {ECO:0000269 PubMed:22926851}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NOL3

Genetic Association Database (GAD)
NOL3
Human Genome Epidemiology (HuGE) Navigator
NOL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NOL3
genes like me logo Genes that share disorders with NOL3: view

No data available for Genatlas for NOL3 Gene

Publications for NOL3 Gene

  1. ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases. (PMID: 9560245) Koseki T. … Nunez G. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23 67
  2. Caspase-8 and its inhibitors in RCCs in vivo: the prominent role of ARC. (PMID: 18516683) Heikaus S. … Ramp U. (Apoptosis 2008) 3 23
  3. Inhibition of both the extrinsic and intrinsic death pathways through nonhomotypic death-fold interactions. (PMID: 15383280) Nam Y.J. … Kitsis R.N. (Mol. Cell 2004) 3 23
  4. Alternative splicing determines the intracellular localization of the novel nuclear protein Nop30 and its interaction with the splicing factor SRp30c. (PMID: 10196175) Stoss O. … Stamm S. (J. Biol. Chem. 1999) 3 23
  5. MicroRNA-185 regulates chemotherapeutic sensitivity in gastric cancer by targeting apoptosis repressor with caspase recruitment domain. (PMID: 24763054) Li Q. … Li P.F. (Cell Death Dis 2014) 3

Products for NOL3 Gene

Sources for NOL3 Gene

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