NOP56 Gene

Name	NOP56 ribonucleoprotein
Description	Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Expansion of a GGCCTG repeat from 3-8 copies to 1500-2500 copies in an intron of this gene results in spinocerebellar ataxia 36. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jul 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nNOP56 is a highly conserved nucleolar protein that forms an essential part of box C/D small nucleolar ribonucleoprotein (snoRNP) complexes, which guide 2′‐O-methylation of precursor ribosomal RNA, thereby playing a critical role in ribosome biogenesis. Studies in human cells have demonstrated that NOP56 interacts directly with other snoRNP core components such as fibrillarin and NOP58, and its association is vital during the early to middle stages of 60S ribosomal subunit assembly. In addition, assembly factors like the TIP48/TIP49 complex and epigenetic regulators such as EZH2 help bridge and strengthen interactions between NOP56 and other snoRNP proteins, while alternative RNP conformations in its pre-mRNA can control its expression via feedback mechanisms mediated by intron-hosted snoRNAs."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn parallel, an expansion of a GGCCTG hexanucleotide repeat located in an intronic region of NOP56 has been linked to spinocerebellar ataxia type 36 (SCA36). This pathogenic repeat expansion triggers an RNA gain-of-function mechanism that leads to the formation of RNA foci and perturbs downstream processes such as global translation through ribosomal dysfunction. The mutation has been identified in diverse populations—including Japanese, Spanish, and Chinese families—and its dynamic behavior (such as repeat expansion and contraction during transmission) underlines its role as a genetic driver of neurodegeneration. Moreover, comparisons with other repeat-associated disorders support the notion that the intrinsic properties of these repeats contribute to selective neuronal vulnerability."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its canonical role in ribosome assembly and neurodegeneration, aberrant expression and regulation of NOP56 have been implicated in oncogenesis. Alterations in ribosome biogenesis and rRNA 2′-O-methylation—aspects in which NOP56 is centrally involved—can contribute to dysregulated translation observed in malignancies, including pediatric leukemias and other tumor types. Screening studies have revealed that abnormal NOP56 expression and its methylation status vary among cancers, suggesting that NOP56 may serve as a tumor-specific marker and play divergent roles in tumor promotion or suppression depending on the cellular context."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "12", "end_ref": "14"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Toshiya Hayano, Mitsuaki Yanagida, Yoshio Yamauchi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M304304200"}], "href": "https://doi.org/10.1074/jbc.M304304200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12777385"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12777385"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Tanguy Lechertier, Alice Grob, Danièle Hernandez-Verdun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibrillarin and Nop56 interact before being co-assembled in box C/D snoRNPs."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Cell Res (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.yexcr.2009.01.016"}], "href": "https://doi.org/10.1016/j.yexcr.2009.01.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19331828"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19331828"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Kenneth Scott McKeegan, Charles Maurice Debieux, Nicholas James Watkins "}, {"type": "b", "children": [{"type": "t", "text": "Evidence that the AAA+ proteins TIP48 and TIP49 bridge interactions between 15.5K and the related NOP56 and NOP58 proteins during box C/D snoRNP biogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.00752-09"}], "href": "https://doi.org/10.1128/MCB.00752-09"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19620283"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19620283"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Søren Lykke-Andersen, Britt Kidmose Ardal, Anne Kruse Hollensen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Box C/D snoRNP Autoregulation by a cis-Acting snoRNA in the NOP56 Pre-mRNA."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2018.08.017"}], "href": "https://doi.org/10.1016/j.molcel.2018.08.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30220559"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30220559"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yang Yi, Yanqiang Li, Qingshu Meng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A PRC2-independent function for EZH2 in regulating rRNA 2'-O methylation and IRES-dependent translation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Cell Biol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41556-021-00653-6"}], "href": "https://doi.org/10.1038/s41556-021-00653-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33795875"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33795875"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Hatasu Kobayashi, Koji Abe, Tohru Matsuura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2011.05.015"}], "href": "https://doi.org/10.1016/j.ajhg.2011.05.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21683323"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21683323"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "María García-Murias, Beatriz Quintáns, Manuel Arias, et al. "}, {"type": "b", "children": [{"type": "t", "text": "'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/aws069"}], "href": "https://doi.org/10.1093/brain/aws069"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22492559"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22492559"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "S Zeng, J Zeng, M He, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.12706"}], "href": "https://doi.org/10.1111/cge.12706"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26661328"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26661328"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Sheng Zeng, Beisha Tang, Junling Wang "}, {"type": "b", "children": [{"type": "t", "text": "[Recent advances in clinical and genetic research of spinocerebellar ataxia type 36]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3760/cma.j.issn.1003-9406.2015.06.029"}], "href": "https://doi.org/10.3760/cma.j.issn.1003-9406.2015.06.029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26663071"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26663071"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Tiffany W Todd, Zachary T McEachin, Jeannie Chew, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2020.107616"}], "href": "https://doi.org/10.1016/j.celrep.2020.107616"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32375043"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32375043"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Takuya Morikawa, Shiroh Miura, Yusuke Uchiyama, et al. 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Synonyms	NOL5A, SCA36
Proteins	NOP56_HUMAN
NCBI Gene ID	10528
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

NOP56 has 11,186 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 117 datasets.

Click the + buttons to view associations for NOP56 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

NOP56 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of NOP56 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of NOP56 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of NOP56 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of NOP56 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of NOP56 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of NOP56 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of NOP56 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of NOP56 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of NOP56 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of NOP56 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with NOP56 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with NOP56 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of NOP56 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of NOP56 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of NOP56 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of NOP56 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing NOP56 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing NOP56 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing NOP56 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing NOP56 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with NOP56 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with NOP56 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing NOP56 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of NOP56 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with NOP56 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with NOP56 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with NOP56 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving NOP56 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving NOP56 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with NOP56 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with NOP56 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with NOP56 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with NOP56 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at NOP56 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of NOP56 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of NOP56 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing NOP56 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of NOP56 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with NOP56 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing NOP56 from the GeneSigDB Published Gene Signatures dataset.