Mitochondrial ribosomal protein L3

MRPL3
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3J7Y, 3J9M
Identifiers
Aliases	MRPL3, COXPD9, MRL3, RPML3, mitochondrial ribosomal protein L3
External IDs	OMIM: 607118 MGI: 2137204 HomoloGene: 31431 GeneCards: MRPL3
Gene location (Human)
Chr.	Chromosome 3 (human)
End	131,502,983 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	104,957,087 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; tibia; ; corpus epididymis; ; caput epididymis; ; sperm; ; right ventricle; ; germinal epithelium; ; kidney tubule; ; palpebral conjunctiva; ; parietal pleura;
	Top expressed in
	endocardial cushion; ; atrioventricular valve; ; hair follicle; ; Paneth cell; ; ureter; ; medullary collecting duct; ; primitive streak; ; soleus muscle; ; renal corpuscle; ; spermatocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	structural constituent of ribosome; RNA binding;
Cellular component	mitochondrial inner membrane; ribosome; intracellular anatomical structure; mitochondrion; mitochondrial large ribosomal subunit;
Biological process	mitochondrial translational elongation; mitochondrial translational termination; protein biosynthesis;
	Sources:Amigo / QuickGO
Orthologs
	11222
	94062
	ENSG00000114686
	ENSMUSG00000032563
	P09001
	Q99N95
	NM_007208
	NM_053159; NM_001364512; NM_001364513
	NP_009139
	NP_444389; NP_001351441; NP_001351442
	Wikidata
View/Edit Human	View/Edit Mouse

Mitochondrial ribosomal protein L3 is a protein that in humans is encoded by the MRPL3 gene.^[5]

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 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008].^[5]

Clinical relevance

Mutations in this gene have been shown to cause mitochondrial cardiomyopathy.^[6]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000114686 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032563 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "Entrez Gene: Mitochondrial ribosomal protein L3". Retrieved 2011-12-30.
↑ Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A (November 2011). "Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy". Hum. Mutat. 32 (11): 1225–31. doi:10.1002/humu.21562. PMID 21786366. S2CID 46713472.

External links

Overview of all the structural information available in the PDB for UniProt: P09001 (39S ribosomal protein L3, mitochondrial) at the PDBe-KB.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000114686 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032563 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene: Mitochondrial ribosomal protein L3". Retrieved 2011-12-30.

[pmid21786366-6] Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A (November 2011). "Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy". Hum. Mutat. 32 (11): 1225–31. doi:10.1002/humu.21562. PMID 21786366. S2CID 46713472.

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[5]

[6]

Clinical relevance

References

Further reading

External links