RPS28 ribosomal protein S28 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RPS28provided by HGNC
Official Full Name: ribosomal protein S28provided by HGNC
Primary source: HGNC:HGNC:10418
See related: Ensembl:ENSG00000233927 MIM:603685; AllianceGenome:HGNC:10418
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: S28; eS28; DBA15
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 S28E family of ribosomal proteins. It is located in the cytoplasm. 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 563.4), spleen (RPKM 434.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (8321496..8323340)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (8308015..8309851)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (8386380..8388224)

Chromosome 19 - NC_000019.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

40S ribosomal protein S28 (RPS28) knockdown increases total peptide supply in uninfected cells by increasing DRiP synthesis from non-canonical translation of "untranslated" regions and non-AUG start codons and sensitizes tumor cells for T cell targeting.
Title: Ribosomal Proteins Regulate MHC Class I Peptide Generation for Immunosurveillance.
A likely pathogenic X-linked mutation affecting a highly conserved residue was found in TSR2 and De novo mutations affecting the RPS28 start codon were found in two unrelated probands, identifying RPS28 as a novel disease gene.
Title: Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

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

Associated conditions

Description	Tests
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis MedGen: C4225411 OMIM: 606164 GeneReviews: Diamond-Blackfan Anemia	Compare labs

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

RP_S28_1 (e-PCR)
- UniSTS:79642

RH78597 (e-PCR)
- UniSTS:56872

D19S1020 (e-PCR)
- UniSTS:34345

WI-17737 (e-PCR)
- UniSTS:11477

RH79980 (e-PCR)
- UniSTS:84967

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
enables structural constituent of ribosome	IMP Inferred from Mutant Phenotype 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 maturation of SSU-rRNA	IBA Inferred from Biological aspect of Ancestor more info
involved_in rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosomal small subunit assembly	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 ribosomal small subunit biogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosome biogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in translation	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasmic side of rough endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
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 extracellular exosome	HDA more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in ribosome	IDA Inferred from Direct Assay more info	PubMed
part_of small ribosomal subunit	HDA more info	PubMed
part_of small-subunit processome	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: small ribosomal subunit protein eS28

Names: 40S ribosomal protein S28

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.

Genomic

NG_050637.1 RefSeqGene

Range

4997..6841

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001031.5 → NP_001022.1 small ribosomal subunit protein eS28

See identical proteins and their annotated locations for NP_001022.1

Status: REVIEWED

Source sequence(s)

AC010323, BC021239, BC070217

Consensus CDS

CCDS45953.1

UniProtKB/Swiss-Prot

P25112, P62857

UniProtKB/TrEMBL

B2R4R9

Related

ENSP00000472469.1, ENST00000600659.3

Conserved Domains (1) summary

cd04457
Location:10 → 69

S1_S28E; S28E, S1-like RNA-binding domain. S1-like RNA-binding domains are found in a wide variety of RNA-associated proteins. S28E protein is a component of the 30S ribosomal subunit. S28E is highly conserved among archaea and eukaryotes. S28E may control ...