InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NOL3

Summary

InnateDB Protein

IDBP-36119.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NOL3

Protein Name

nucleolar protein 3 (apoptosis repressor with CARD domain)

Synonyms

ARC; FCM; MYP; NOP; NOP30;

Species

Homo sapiens

Ensembl Protein

ENSP00000268605

InnateDB Gene

IDBG-36117 (NOL3)

Protein Structure

UniProt Annotation

Function

Isoform 1 may be involved in RNA splicing.Isoform 2 may inhibit apoptosis.

Subcellular Localization

Isoform 1: Nucleus, nucleolus. Note=The SR- rich C-terminus mediates nuclear localization.Isoform 2: Cytoplasm.Isoform 3: Cytoplasm {ECO:0000305}.

Disease Associations

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:0000269PubMed:22926851}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in heart and skeletal muscle. Detected at low levels in placenta, liver, kidney and pancreas.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	43 [view]
Protein-Protein	36 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	7 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0042802	identical protein binding

Biological Process

GO:0006397	mRNA processing
GO:0006915	apoptotic process
GO:0008380	RNA splicing
GO:0042981	regulation of apoptotic process
GO:0043066	negative regulation of apoptotic process