MRPS18B mitochondrial ribosomal protein S18B [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRPS18Bprovided by HGNC
Official Full Name: mitochondrial ribosomal protein S18Bprovided by HGNC
Primary source: HGNC:HGNC:14516
See related: Ensembl:ENSG00000204568 MIM:611982; AllianceGenome:HGNC:14516
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: mS40; PTD017; S18amt; C6orf14; HSPC183; MRPS18-2; HumanS18a; MRP-S18-2
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 belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in heart (RPKM 30.3), thyroid (RPKM 26.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (30617840..30626392)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (30482021..30490573)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (30585617..30594169)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Expression pattern of MRPS18 family genes in gliomas.
Title: Expression pattern of MRPS18 family genes in gliomas.
trend for increasing expression of the S18-2 protein in tumors correlates with the aggressiveness of malignant breast cancer.
Title: Overexpression of the mitochondrial ribosomal protein S18-2 in the invasive breast carcinomas.
Together, these data suggest that the S18-2 protein induces epithelial to mesenchymal cell transition through the TWIST2/E-cadherin signalling and, consequently, CXCR4-mediated migration of prostate cancer cells.
Title: The MRPS18-2 protein levels correlate with prostate tumor progression and it induces CXCR4-dependent migration of cancer cells.
Evolutionary trace analysis showed that the S18-2 protein is mutated at the higher rate in tumors, compared with S18-1 and S18-3. The one of the most conserved residues in the S18-2 protein sequence, Gly132, is often mutated in colorectal cancer.
Title: S18 family of mitochondrial ribosomal proteins: evolutionary history and Gly132 polymorphism in colon carcinoma.
We conclude that high expression of S18-2 and free E2F...1might be a good set of prognostic markers for endometrial cancer
Title: Mitochondrial ribosomal protein S18-2 is highly expressed in endometrial cancers along with free E2F1.
Studies suggest that mitochondrial ribosomal protein S18-2 protein, together with the retinoblastoma protein (RB), plays a crucial role in the control on cell stemness and differentiation.
Title: Do MRPS18-2 and RB proteins cooperate to control cell stemness and differentiation, preventing cancer development?
S18-2 is a newly identified oncoprotein that may be involved in cancerogenesis
Title: Mitochondrial ribosomal protein S18-2 evokes chromosomal instability and transforms primary rat skin fibroblasts.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
EBNA-6 {ebna-3c} binds to MRPS18-2 , and targets it to the nucleus; binding targets the small pocket of pRb, which is a site of interaction with E2F1. The MRPS18-2 competes with the binding of E2F1 to pRb, thereby raising the level of free E2F1
Title: EBV-encoded EBNA-6 binds and targets MRS18-2 to the nucleus, resulting in the disruption of pRb-E2F1 complexes.

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Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of ribosome	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables structural constituent of ribosome	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial translation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in mitochondrial translation	NAS Non-traceable Author Statement more info	PubMed
involved_in translation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell junction	IDA Inferred from Direct Assay more info
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	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial small ribosomal subunit	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of mitochondrial small ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: small ribosomal subunit protein mS40

Names: 28S ribosomal protein S18-2, mitochondrial; 28S ribosomal protein S18b, mitochondrial; MRP-S18-b; S18mt-b; mitochondrial ribosomal protein S18-2; mitochondrial small ribosomal subunit protein bS18b; mitochondrial small ribosomal subunit protein bS18m-B; mitochondrial small ribosomal subunit protein mS40; mrps18-b; small ribosomal subunit protein bS18b

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.