RPL11 ribosomal protein L11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPL11provided by HGNC
Official Full Name: ribosomal protein L11provided by HGNC
Primary source: HGNC:HGNC:10301
See related: Ensembl:ENSG00000142676 MIM:604175; AllianceGenome:HGNC:10301
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: L11; uL5; DBA7; GIG34
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 L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2010]
Expression: Ubiquitous expression in ovary (RPKM 1447.2), bone marrow (RPKM 910.3) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1p36.11

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (23691779..23696835)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (23526679..23531735)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (24018269..24023325)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RPL11 promotes non-small cell lung cancer cell proliferation by regulating endoplasmic reticulum stress and cell autophagy.
Title: RPL11 promotes non-small cell lung cancer cell proliferation by regulating endoplasmic reticulum stress and cell autophagy.
Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder.
Title: Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder.
Deficiency of the Ribosomal Protein uL5 Leads to Significant Rearrangements of the Transcriptional and Translational Landscapes in Mammalian Cells.
Title: Deficiency of the Ribosomal Protein uL5 Leads to Significant Rearrangements of the Transcriptional and Translational Landscapes in Mammalian Cells.
patients with RPL11 mutations were less likely to need chronic treatment. Birth defects, including cardiac, skeletal, hand, cleft lip or palate and genitourinary malformations, also varied among the various genetic groups
Title: Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
PICT-1 is a major nucleolar sensor of the DNA damage repair response and an important upstream regulator of p53 via the RPL11-MDM2-p53 pathway.
Title: PICT-1 is a key nucleolar sensor in DNA damage response signaling that regulates apoptosis through the RPL11-MDM2-p53 pathway.
A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult.
Title: A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult.
RPL splicing variant is associated with Diamond-Blackfan anemia.
Title: Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
Simulation of HEY1 Ser-68 phosphorylation prevents its interaction with p53, RPL11 and MDM2 and abolishes HEY1 migration to nucleolar caps upon ribosomal stress. Our findings uncover a novel mechanism for cross-talk between Notch signalling and nucleolar stress
Title: HEY1 functions are regulated by its phosphorylation at Ser-68.
Data suggest 5S ribosomal RNA is a direct target of miR-150 and miR-383 in esophageal squamous cell carcinoma (ESCC); overexpression of miR-150 and miR-383 inhibits ESCC cell proliferation in vitro and in vivo and intensifies RPL11/c-Myc interaction.
Title: Down-regulation of 5S rRNA by miR-150 and miR-383 enhances c-Myc-rpL11 interaction and inhibits proliferation of esophageal squamous carcinoma cells.
Ribosomal proteins L11 and L5 activate TAp73 by overcoming MDM2 inhibition.
Title: Ribosomal proteins L11 and L5 activate TAp73 by overcoming MDM2 inhibition.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Diamond-Blackfan anemia 7 MedGen: C2675512 OMIM: 612562 GeneReviews: Diamond-Blackfan Anemia	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	HIV-1 Gag interacts with RPL11 as demonstrated by proximity dependent biotinylation proteomics	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of ribosomal protein L11 (RPL11) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D5S2608 (e-PCR)
- UniSTS:81458

SHGC-74406 (e-PCR)
- UniSTS:18600

D1S3382 (e-PCR)
- UniSTS:18601

D1S1285 (e-PCR)
- UniSTS:149482

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 5S rRNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
enables structural constituent of ribosome	NAS Non-traceable Author Statement more info	PubMed
enables ubiquitin ligase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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 negative regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein neddylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ubiquitin protein ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of signal transduction by p53 class mediator	IEA Inferred from Electronic Annotation more info
involved_in protein localization to nucleus	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein targeting	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA processing	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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in translation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	HDA more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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
located_in cytosolic ribosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleolus	HDA more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: large ribosomal subunit protein uL5

Names: 60S ribosomal protein L11; CLL-associated antigen KW-12; cell growth-inhibiting protein 34

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_011741.2 RefSeqGene

Range

5028..10057

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1140

mRNA and Protein(s)

NM_000975.5 → NP_000966.2 large ribosomal subunit protein uL5 isoform 1

See identical proteins and their annotated locations for NP_000966.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AA748897, AL451000, BU954396, BX118515, CA335141

Consensus CDS

CCDS238.1

UniProtKB/Swiss-Prot

P25121, P39026, P62913, Q8TDH2, Q9Y674

UniProtKB/TrEMBL

Q08ES8, Q5VVD0

Related

ENSP00000496250.1, ENST00000643754.2

Conserved Domains (1) summary

PTZ00156
Location:5 → 175

PTZ00156; 60S ribosomal protein L11; Provisional
NM_001199802.1 → NP_001186731.1 large ribosomal subunit protein uL5 isoform 2

See identical proteins and their annotated locations for NP_001186731.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks 3 nts at an alternate splice site, as compared to variant 1. The resulting isoform (2) lacks an internal aa in the N-terminal region, as compared to isoform 1.

Source sequence(s)

BC018970, BF240826, BU954396, CA335141

Consensus CDS

CCDS85940.1

UniProtKB/TrEMBL

Q08ES8

Related

ENSP00000363676.4, ENST00000374550.8

Conserved Domains (1) summary

PTZ00156
Location:4 → 174

PTZ00156; 60S ribosomal protein L11; Provisional