RRS1 ribosome biogenesis regulator 1 homolog [Homo sapiens (human)] - Gene

Summary

Official Symbol: RRS1provided by HGNC
Official Full Name: ribosome biogenesis regulator 1 homologprovided by HGNC
Primary source: HGNC:HGNC:17083
See related: Ensembl:ENSG00000179041 MIM:618311; AllianceGenome:HGNC:17083
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
Summary: Enables 5S rRNA binding activity. Involved in several processes, including mitotic metaphase chromosome alignment; protein localization to nucleolus; and ribosomal large subunit assembly. Located in condensed nuclear chromosome; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: mouse all
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Genomic context

Location:: 8q13.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (66429014..66430733)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (66854584..66856303)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (67341249..67342968)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of RRS1 in breast cancer cells metastasis and AEG-1/AKT/c-Myc signaling pathway.
Title: The role of RRS1 in breast cancer cells metastasis and AEG-1/AKT/c-Myc signaling pathway.
Long noncoding RNA SNHG1 promotes breast cancer progression by regulating the miR-641/RRS1 axis.
Title: Long noncoding RNA SNHG1 promotes breast cancer progression by regulating the miR-641/RRS1 axis.
Genomic gain/methylation modification/hsa-miR-132-3p increases RRS1 overexpression in liver hepatocellular carcinoma.
Title: Genomic gain/methylation modification/hsa-miR-132-3p increases RRS1 overexpression in liver hepatocellular carcinoma.
Genomic gain of RRS1 promotes hepatocellular carcinoma through reducing the RPL11-MDM2-p53 signaling.
Title: Genomic gain of RRS1 promotes hepatocellular carcinoma through reducing the RPL11-MDM2-p53 signaling.
RRS1 Promotes Retinoblastoma Cell Proliferation and Invasion via Activating the AKT/mTOR Signaling Pathway.
Title: RRS1 Promotes Retinoblastoma Cell Proliferation and Invasion via Activating the AKT/mTOR Signaling Pathway.
co-immunoprecipitation (CoIP) experiments showed that RRS1 knockdown activated p53 by facilitating the direct contact of MDM2 and RPL11/RPL5. Taken together, our results suggest that RRS1 may contribute to breast cancer proliferation through RPL11/MDM2-mediated p53 activation.
Title: Functional role of RRS1 in breast cancer cell proliferation.
RRS1 is a novel gene related to breast cancer and has an important role in breast cancer proliferation and apoptosis
Title: Effect of RRS1 gene knockdown on BT549 cell line proliferation and apoptosis in breast cancer.
These results suggest that the RRS1 gene plays a critical role in cell proliferation, colony formation, cell apoptosis and cell cycle distribution in human HCC cells, and that silencing of RRS1 by RNAi is a promising therapeutic approach for the treatment of HCC, and should be further developed
Title: Knockdown of RRS1 by lentiviral-mediated RNAi promotes apoptosis and suppresses proliferation of human hepatocellular carcinoma cells.
RNA interference experiments revealed that RRS1-depleted cells show abnormalities in chromosome alignment and spindle organization, which result in mitotic delay.
Title: A nucleolar protein RRS1 contributes to chromosome congression.

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) (RRS1) at amino acid residues 222-223 by the HIV-1 protease	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17390 (e-PCR)
- UniSTS:3436

D8S1606 (e-PCR)
- UniSTS:78726

RH25337 (e-PCR)
- UniSTS:86936

G27361 (e-PCR)
- UniSTS:40409

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 5S rRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info
involved_in hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in mitotic metaphase chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to nucleolus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosomal large subunit assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosomal large subunit biogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosomal large subunit biogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in condensed nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
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
part_of preribosome, large subunit precursor	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ribosome biogenesis regulatory protein homolog

Names: RRS1 ribosome biogenesis regulator homolog; homolog of yeast ribosome biogenesis regulator; homolog of yeast ribosome biogenesis regulatory protein RRS1; ribosome biogenesis regulator homolog; ribosome biogenesis regulatory protein RRS1 homolog

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.