RPL30 ribosomal protein L30 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPL30provided by HGNC
Official Full Name: ribosomal protein L30provided by HGNC
Primary source: HGNC:HGNC:10333
See related: Ensembl:ENSG00000156482 MIM:180467; AllianceGenome:HGNC:10333
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: L30; eL30
Summary: Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary (RPKM 1597.1), lymph node (RPKM 816.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (98041721..98045545, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (99167205..99171037, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (99053949..99057773, complement)

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

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?

crystal of L30e diffracted to 1.6 A degrees resolution
Title: Crystallization and preliminary X-ray structure analysis of human ribosomal protein L30e.
Knockdown of L29 or L30 enhanced the interaction of MDM2 with L11 and L5 and markedly inhibited MDM2-mediated p53 ubiquitination, suggesting that direct perturbation of 60 S ribosomal biogenesis activates p53 via L11- and L5-mediated MDM2 suppression.
Title: Perturbation of 60 S ribosomal biogenesis results in ribosomal protein L5- and L11-dependent p53 activation.
Gain of 8q-mapped RPL30 gene is associated with adverse outcome in Medulloblastoma.
Title: Medulloblastoma outcome is adversely associated with overexpression of EEF1D, RPL30, and RPS20 on the long arm of chromosome 8.

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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 60S ribosomal protein L30 (RPL30) at amino acid residues 92-93 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

D8S1655 (e-PCR)
- UniSTS:58626

D8S1959 (e-PCR)
- UniSTS:53026

D8S2279 (e-PCR)
- UniSTS:473907

D8S1364E (e-PCR)
- UniSTS:151178

MARC_1295-1296:991931143:1 (e-PCR)
- UniSTS:230857

G59910 (e-PCR)
- UniSTS:137192

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of ribosome	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of ribosome	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of ribosome	NAS Non-traceable Author Statement more info	PubMed
enables structural constituent of ribosome	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
involved_in cytoplasmic translation	IC Inferred by Curator more info	PubMed
involved_in cytoplasmic translation	IDA Inferred from Direct Assay more info	PubMed
involved_in cytoplasmic translation	NAS Non-traceable Author Statement more info	PubMed
involved_in defense response to Gram-negative bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in killing of cells of another organism	IDA Inferred from Direct Assay more info	PubMed
involved_in translation	NAS Non-traceable Author Statement more info	PubMed
involved_in translation	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of cytosolic large ribosomal subunit	HDA more info	PubMed
part_of cytosolic large ribosomal subunit	IBA Inferred from Biological aspect of Ancestor more info
part_of cytosolic large ribosomal subunit	IDA Inferred from Direct Assay more info	PubMed
part_of cytosolic large ribosomal subunit	IPI Inferred from Physical Interaction more info	PubMed
part_of cytosolic large ribosomal subunit	TAS Traceable Author Statement more info	PubMed
located_in cytosolic ribosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density	EXP Inferred from Experiment more info	PubMed
is_active_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: large ribosomal subunit protein eL30

Names: 60S ribosomal protein L30

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.