NOL3 (Nucleolar Protein 3) Gene

Apoptosis Regulator and Cancer-Associated Gene

Gene Information Card

Symbol NOL3
Full Name Nucleolar Protein 3
Gene Type Protein coding
Chromosomal Location 16q22.1
NCBI Gene ID 8996 ncbi.nlm.nih.gov/gene/8996
Ensembl ID ENSG00000140937
UniProt ID O60936
OMIM ID 605235
HGNC ID 7867
Aliases ARC, MYP, NOP30, NOL3A

Description

NOL3 (nucleolar protein 3) encodes an anti-apoptotic protein that inhibits caspase activation and modulates cell death pathways. It is involved in cardiac and skeletal muscle protection and is dysregulated in various cancers.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (multiple types) Overexpression inhibits apoptosis, promoting tumor survival PMID: 14562041
Myocardial infarction Protective role against ischemia-induced apoptosis PMID: 12538875
Huntington disease Upregulation may counteract neuronal apoptosis PMID: 17099713

Expression Profile

Tissue Expression
Tissue nTPM level
Heart 12.5 Medium
Skeletal muscle 8.3 Medium
Brain 3.1 Low
Liver 1.2 Not detected
Cell Line Expression
Cell Line nTPM Notes
HeLa 5.4 Moderate expression
HEK293 3.8 Low expression
MCF7 7.2 High expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G Missense <0.01% Unknown
c.214C>T Nonsense <0.01% Loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations leading to truncated protein and loss of anti-apoptotic activity.

Gain of Function (GOF)

Not well characterized; overexpression in cancer may act as gain of function.

Dominant Negative (DN)

Not reported.

Gene Ontology (GO)

• apoptotic process • negative regulation of apoptotic process
• cysteine-type endopeptidase inhibitor activity • nucleolus
• cytoplasm

Pathways

Apoptosis
p53 signaling pathway

Protein Summary

The NOL3 protein (ARC) is a 224-amino acid protein that inhibits apoptosis by binding to and inhibiting caspases (CASP2, CASP8) and by modulating mitochondrial cytochrome c release. It is predominantly expressed in heart and skeletal muscle.

Related Products

Product name Cat.No. Species Gene ID
NOL3 Knockout HEK293 Cell Line EDJ-KQ50838 Human 8996 Details Get a Quote
NOL3 Knockout HeLa Cell Line EDJ-KQ55052 Human 8996 Details Get a Quote
NOL3 Knockout A-549 Cell Line EDJ-KQ63535 Human 8996 Details Get a Quote
NOL3 Knockout HCT 116 Cell Line EDJ-KQ72004 Human 8996 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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