RRP8 ribosomal RNA processing 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RRP8provided by HGNC
Official Full Name: ribosomal RNA processing 8provided by HGNC
Primary source: HGNC:HGNC:29030
See related: Ensembl:ENSG00000132275 MIM:615818; AllianceGenome:HGNC:29030
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NML; KIAA0409
Summary: Enables methylated histone binding activity. Involved in several processes, including cellular response to glucose starvation; intrinsic apoptotic signaling pathway by p53 class mediator; and regulation of gene expression. Located in several cellular components, including cytosol; nuclear lumen; and rDNA heterochromatin. Part of chromatin silencing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in spleen (RPKM 2.0), lymph node (RPKM 1.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (6595072..6603616, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (6653543..6662088, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (6616302..6624846, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NML depletion increases 60S ribosomal protein L11 (RPL11) levels in the ribosome-free fraction and protein levels of p53 through an RPL11-MDM2 complex, which activates the p53 pathway.
Title: NML-mediated rRNA base methylation links ribosomal subunit formation to cell proliferation in a p53-dependent manner.
Breast tumors without detectable nucleolar NML expression had poor survival.
Title: Nucleolar repression facilitates initiation and maintenance of senescence.
Among Systemic lupus erythematosus patients, 63.6% and 45.5% of those with lupus nephritis were positive for anti-RRP8 and anti-TNP1 antibodies, compared with 12.5% and 9.4% of Systemic lupus erythematosus patients without nephritis, respectively.
Title: Novel Autoantigens Associated with Lupus Nephritis.
Data indicate that the the nucleomethylin (NML)-SirT1 interaction was competitively inhibited by rRNA.
Title: Regulation of SirT1-nucleomethylin binding by rRNA coordinates ribosome biogenesis with nutrient availability.
These observations suggest that NML may regulate consumption of hepatic triglyceride in liver regeneration after partial hepatectomy due to storage of excess ATP.
Title: The nucleolar protein NML regulates hepatic ATP levels during liver regeneration after partial hepatectomy.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-15843 (e-PCR)
- UniSTS:3340

D8S2279 (e-PCR)
- UniSTS:473907

G59726 (e-PCR)
- UniSTS:137024

WI-11689 (e-PCR)
- UniSTS:10309

RH47197 (e-PCR)
- UniSTS:39346

WI-12713 (e-PCR)
- UniSTS:10454

A007B37 (e-PCR)
- UniSTS:16348

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables S-adenosylmethionine-dependent methyltransferase activity	TAS Traceable Author Statement more info	PubMed
enables methylated histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables methylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to glucose starvation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to glucose starvation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in energy homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in methylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rDNA heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in rDNA heterochromatin formation	IDA Inferred from Direct Assay more info	PubMed
involved_in rDNA heterochromatin formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_negative_effect regulation of G1 to G0 transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by glucose	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by glucose	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin silencing complex	IBA Inferred from Biological aspect of Ancestor more info
part_of chromatin silencing complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
part_of eNoSc complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
part_of rDNA heterochromatin	IBA Inferred from Biological aspect of Ancestor more info
part_of rDNA heterochromatin	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ribosomal RNA-processing protein 8

Names: RRP8 methyltransferase homolog; cerebral protein 1; nucleomethylin; ribosomal RNA processing 8, methyltransferase, homolog

NP_056139.1

EC 2.1.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.