RPL12 ribosomal protein L12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPL12provided by HGNC
Official Full Name: ribosomal protein L12provided by HGNC
Primary source: HGNC:HGNC:10302
See related: Ensembl:ENSG00000197958 MIM:180475; AllianceGenome:HGNC:10302
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: L12; uL11
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 L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, 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 922.0), bone marrow (RPKM 591.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q33.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (127447674..127451406, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (139654623..139658356, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (130209953..130213685, complement)

Chromosome 9 - NC_000009.12 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 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?

Phosphoproteomics on the fractions reveals that phosphorylation of serine 38 in RPL12/uL11, a known mitotic CDK1 substrate, is strongly depleted in polysomes.
Title: Phosphorylation of the Ribosomal Protein RPL12/uL11 Affects Translation during Mitosis.
RPL12 role in CFTR protein folding and stability
Title: Ribosomal Stalk Protein Silencing Partially Corrects the ΔF508-CFTR Functional Expression Defect.
propose that, when not associated with ribosomes, MRPL12 has a second function in transcription, perhaps acting to facilitate the transition from initiation to elongation
Title: Mitochondrial ribosomal protein L12 selectively associates with human mitochondrial RNA polymerase to activate transcription.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.

Submit: New GeneRIF Correction

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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Replication interactions

Interaction	Pubs
Knockdown of ribosomal protein L12 (RPL12) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G33150 (e-PCR)
- UniSTS:20509

D9S1721 (e-PCR)
- UniSTS:21285

RH16398 (e-PCR)
- UniSTS:68183

A008L27 (e-PCR)
- UniSTS:77177

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables large ribosomal subunit rRNA 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	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoplasmic translation	IC Inferred by Curator more info	PubMed
involved_in cytoplasmic translation	NAS Non-traceable Author Statement 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	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	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 focal adhesion	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
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 uL11

Names: 60S ribosomal protein L12

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.