InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NOP56

Summary

InnateDB Protein

IDBP-42072.6

Last Modified

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

Gene Symbol

NOP56

Protein Name

NOP56 ribonucleoprotein homolog (yeast)

Synonyms

NOL5A; SCA36;

Species

Homo sapiens

Ensembl Protein

ENSP00000370589

InnateDB Gene

IDBG-42070 (NOP56)

Protein Structure

UniProt Annotation

Function

Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs. {ECO:0000269PubMed:12777385, ECO:0000269PubMed:15574333}.

Subcellular Localization

Nucleus, nucleolus. Cytoplasm {ECO:0000250}. Nucleus, nucleoplasm {ECO:0000305}.

Disease Associations

Spinocerebellar ataxia 36 (SCA36) [MIM:614153]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA36 is characterized by complicated clinical features, with ataxia as the first symptom, followed by characteristic late-onset involvement of the motor neuron system. Ataxic symptoms, such as gait and truncal instability, ataxic dysarthria, and uncoordinated limbs, start in late forties to fifties. Characteristically, affected individuals exhibit tongue atrophy with fasciculation. Progression of motor neuron involvement is typically limited to the tongue and main proximal skeletal muscles in both upper and lower extremities. {ECO:0000269PubMed:21683323}. Note=The disease is caused by mutations affecting the gene represented in this entry. Caused by large hexanucleotide CGCCTG repeat expansions within intron 1. These expansions induce RNA foci and sequester the RNA-binding protein SRSF2. In addition, the transcription of MIR1292, a microRNA gene located just 19 bp 3' of the GGCCTG repeat, is significantly decreased.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 147 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	147 [view]
Protein-Protein	147 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0030515	snoRNA binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006364	rRNA processing
GO:0008219	cell death

Cellular Component

GO:0005654	nucleoplasm
GO:0005730	nucleolus
GO:0005732	small nucleolar ribonucleoprotein complex
GO:0005737	cytoplasm
GO:0016020	membrane
GO:0031428	box C/D snoRNP complex
GO:0070761	pre-snoRNP complex