MRPS28 mitochondrial ribosomal protein S28 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRPS28provided by HGNC
Official Full Name: mitochondrial ribosomal protein S28provided by HGNC
Primary source: HGNC:HGNC:14513
See related: Ensembl:ENSG00000147586 MIM:611990; AllianceGenome:HGNC:14513
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: MRPS35; COXPD47; HSPC007; MRP-S28; MRP-S35
Summary: Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 38.5), heart (RPKM 29.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (79918717..80030259, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (80350048..80461598, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (80830952..80942494, 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?

MRPS28 joins the ranks of genes encoding mitoribosomal proteins linked to impaired mitoribosomal biogenesis and function in mitochondrial disease.
Title: Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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
Combined oxidative phosphorylation deficiency 47 MedGen: C5436476 OMIM: 618958 GeneReviews: Not available	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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev is identified to have a physical interaction with mitochondrial ribosomal protein S28 (MRPS28) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	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

G17279 (e-PCR)
- UniSTS:67337

RH98635 (e-PCR)
- UniSTS:84601

STS-AA010860 (e-PCR)
- UniSTS:52107

RH36351 (e-PCR)
- UniSTS:72367

RH123281 (e-PCR)
- UniSTS:135658

Readthrough TPD52-MRPS28

Readthrough gene: TPD52-MRPS28, Included gene: TPD52

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial translation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
part_of mitochondrial small ribosomal subunit	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial small ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed
part_of mitochondrial small ribosomal subunit	TAS Traceable Author Statement more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: small ribosomal subunit protein bS1m

Names: 28S ribosomal protein S28, mitochondrial; 28S ribosomal protein S35, mitochondrial; S28mt; S35mt; mitochondrial 28S ribosomal protein S35; mitochondrial small ribosomal subunit protein bS1m

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.