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Aliases for NOL3 Gene

Aliases for NOL3 Gene

  • Nucleolar Protein 3 (Apoptosis Repressor With CARD Domain) 2 3
  • ARC 3 4 6
  • NOP 3 4 6
  • Muscle-Enriched Cytoplasmic Protein 3 4
  • Nucleolar Protein Of 30 KDa 3 4
  • NOP30 3 4
  • MYP 3 4
  • FCM 3 6
  • Apoptosis Repressor With CARD 4
  • Nucleolar Protein 3 3
  • MYC 6

External Ids for NOL3 Gene

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 (Apoptosis Repressor With CARD Domain)) is a Protein Coding gene. Diseases associated with NOL3 include myoclonus, familial cortical and pain agnosia. Among its related pathways are PI3K-Akt signaling pathway and MAPK signaling pathway. GO annotations related to this gene include RNA binding and identical protein 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

Genomic Location for NOL3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NOL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOL3 Gene

Regulatory Elements 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.

    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

No data available for DME Specific Peptides for NOL3 Gene

Domains for NOL3 Gene

Protein Domains for NOL3 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

NOL3_HUMAN
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).:
    • O60936
  • Contains 1 CARD domain.:
    • O60936
genes like me logo Genes that share domains with NOL3: view

No data available for Gene Families for NOL3 Gene

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:0003723 RNA binding TAS 10196175
GO:0005509 calcium ion binding IMP 15509781
GO:0005515 protein binding IPI 10196175
GO:0042802 identical protein binding IPI 16189514
GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process IDA 9560245
genes like me logo Genes that share ontologies with NOL3: view
genes like me logo Genes that share phenotypes with NOL3: view

Animal Models for NOL3 Gene

MGI Knock Outs for NOL3:

miRNA for NOL3 Gene

miRTarBase miRNAs that target NOL3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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. 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
nucleus 5
cytosol 4
mitochondrion 2
extracellular 1

Gene Ontology (GO) - Cellular Components for NOL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA 10196175
GO:0005739 mitochondrion ISS --
GO:0005829 cytosol TAS 10196175
GO:0016528 sarcoplasm --
genes like me logo Genes that share ontologies with NOL3: view

Pathways for NOL3 Gene

SuperPathways for NOL3 Gene

Superpath Contained pathways
1 Loss of Function of SMAD2/3 in Cancer
2 Signaling by NOTCH1 PEST Domain Mutants in Cancer
3 ERK Signaling
4 PEDF Induced Signaling
5 ErbB signaling pathway
genes like me logo Genes that share pathways with NOL3: view

Gene Ontology (GO) - Biological Process for NOL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006376 mRNA splice site selection IDA 10196175
GO:0006397 mRNA processing --
GO:0006915 apoptotic process --
GO:0008380 RNA splicing TAS 10196175
genes like me logo Genes that share ontologies with NOL3: view

Compounds for NOL3 Gene

(2) Novoseek inferred chemical compound relationships for NOL3 Gene

Compound -log(P) Hits PubMed IDs
proline 41.2 1
glutamate 18.1 1
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

Integrated Proteomics: protein expression 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 expressions with NOL3: view

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 36
  • 82.69 (n)
  • 82.04 (a)
NOL3 37
  • 49 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NOL3 36
  • 84.52 (n)
  • 83.33 (a)
NOL3 37
  • 51 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nol3 36
  • 83.67 (n)
  • 87.92 (a)
Nol3 16
Nol3 37
  • 46 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NOL3 37
  • 31 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NOL3 37
  • 33 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nol3 36
  • 83 (n)
  • 89.93 (a)
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 MAF
rs1152083 -- 67,172,472(-) accac(A/G)ctcag upstream-variant-2KB, intron-variant
rs2233455 -- 67,174,030(+) CCGTC(C/G/T)GGCGG utr-variant-5-prime, intron-variant, reference, synonymous-codon
rs2233456 -- 67,174,059(+) TAAAC(C/T)CCAGC intron-variant
rs2233457 -- 67,174,206(+) CTATC(C/G)ACCGC missense, reference
rs2233458 -- 67,174,656(+) GCCCA(A/G)GCCAC synonymous-codon, reference, missense

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

Relevant External Links for NOL3 Gene

HapMap Linkage Disequilibrium report
NOL3
Human Gene Mutation Database (HGMD)
NOL3

Disorders for NOL3 Gene

(1) OMIM Diseases for NOL3 Gene (605235)

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.

(1) University of Copenhagen DISEASES for NOL3 Gene

Relevant External Links for NOL3

Genetic Association Database (GAD)
NOL3
Human Genome Epidemiology (HuGE) Navigator
NOL3
genes like me logo Genes that share disorders with NOL3: view

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
  2. 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 4 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. Caspase-8 and its inhibitors in RCCs in vivo: the prominent role of ARC. (PMID: 18516683) Heikaus S. … Ramp U. (Apoptosis 2008) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for NOL3 Gene

Sources for NOL3 Gene

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