RPS12 ribosomal protein S12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPS12provided by HGNC
Official Full Name: ribosomal protein S12provided by HGNC
Primary source: HGNC:HGNC:10385
See related: Ensembl:ENSG00000112306 MIM:603660; AllianceGenome:HGNC:10385
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: S12; eS12
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 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. 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 1633.0), bone marrow (RPKM 1134.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q23.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (132814569..132817564)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (134009591..134012586)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (133135708..133138703)

Chromosome 6 - NC_000006.12 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 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?

Molecular analysis of streptomycin-resistance associating genes in Mycobacterium tuberculosis isolates from Nepal.
Title: Molecular analysis of streptomycin-resistance associating genes in Mycobacterium tuberculosis isolates from Nepal.
HumanaFly: high-throughput transgenesis and expression of breast cancer transcripts in Drosophila eye discovers the RPS12-Wingless signaling axis.
Title: HumanaFly: high-throughput transgenesis and expression of breast cancer transcripts in Drosophila eye discovers the RPS12-Wingless signaling axis.
Our data suggest that RPS12 (eS12) is enriched in hypoxic monosomes, which increases the heavy polysome association of structured transcripts APAF-1 and XIAP. Furthermore, hypoxia induced five alternative splicing events within a subset of RP mRNAs in cell lines
Title: Hypoxia influences polysome distribution of human ribosomal protein S12 and alternative splicing of ribosomal protein mRNAs.
Streptomycin resistance is mainly related to mutation at codons 43 and 88 "rpsL" gene and to a lesser extent "rrs" that are the greatest cause of drug resistance to streptomycin.
Title: Analysis of rpsL and rrs genes mutations related to streptomycin resistance in Mdr and Xdr clinical isolates of Mycobacterium tuberculosis.
Our findings provide the first demonstration that RPS12 plays important roles in regulating the proliferation and migration of gastric cancer cells. S100A4 can mediate the effects of RPS12 as a downstream effector
Title: RPS12-specific shRNA inhibits the proliferation, migration of BGC823 gastric cancer cells with S100A4 as a downstream effector.
may be early molecular diagnostic marker for cervical squamous cell carcinoma
Title: Identification of molecular markers for the early detection of human squamous cell carcinoma of the uterine cervix.

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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

EBI GWAS Catalog

Description
A genome-wide association study for diabetic nephropathy genes in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH80451 (e-PCR)
- UniSTS:84793

RH47548 (e-PCR)
- UniSTS:37230

D6S989 (e-PCR)
- UniSTS:149877

PMC310880P1 (e-PCR)
- UniSTS:272787

D6S989 (e-PCR)
- UniSTS:42410

H19 (e-PCR), detects polymorphism
- UniSTS:78253

REN116499 (e-PCR)
- UniSTS:441294

REN116500 (e-PCR)
- UniSTS:441295

ECD03283 (e-PCR)
- UniSTS:284368

REN116501 (e-PCR)
- UniSTS:441296

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of ribosome	HDA 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

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 maintenance of translational fidelity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of positive regulation of canonical Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ribosomal small subunit biogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosomal small subunit biogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in translation	IC Inferred by Curator more info	PubMed
involved_in translation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in cytosolic ribosome	IDA Inferred from Direct Assay more info	PubMed
part_of cytosolic small ribosomal subunit	HDA more info	PubMed
part_of cytosolic small ribosomal subunit	IBA Inferred from Biological aspect of Ancestor more info
part_of cytosolic small ribosomal subunit	IDA Inferred from Direct Assay more info	PubMed
part_of cytosolic small ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of small-subunit processome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: small ribosomal subunit protein eS12

Names: 40S ribosomal protein S12

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.