Mitochondrial ribosomal protein L40

MRPL40
Identifiers
Aliases	MRPL40, MRP-L22, MRPL22, NLVCF, URIM, L40mt, MRP-L40, mitochondrial ribosomal protein L40
External IDs	OMIM: 605089; MGI: 1332635; GeneCards: MRPL40
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3J7Y, 3J9M
Gene location (Human)
Chr.	Chromosome 22 (human)
End	19,436,075 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	18,695,612 bp
RNA expression pattern
	Top expressed in
	Skeletal muscle tissue of rectus abdominis; ; muscle of arm; ; biceps brachii; ; right ventricle; ; Skeletal muscle tissue of biceps brachii; ; olfactory zone of nasal mucosa; ; gastrocnemius muscle; ; triceps brachii muscle; ; body of tongue; ; vastus lateralis muscle;
	Top expressed in
	embryo; ; morula; ; morula; ; epiblast; ; embryo; ; endothelial cell of lymphatic vessel; ; epithelium of stomach; ; primitive streak; ; yolk sac; ; otic placode;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; RNA binding;
Cellular component	mitochondrial inner membrane; ribosome; nucleus; mitochondrion; mitochondrial large ribosomal subunit; mitochondrial ribosome;
Biological process	anatomical structure morphogenesis; mitochondrial translational elongation; mitochondrial translational termination;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	64976
	18100
	ENSG00000185608
	ENSMUSG00000022706
	Q9NQ50
	Q9Z2Q5
	NM_003776; NM_001318151; NM_001318152
	NM_010922
	NP_001305080; NP_001305081; NP_003767
	NP_035052
	Wikidata
View/Edit Human	View/Edit Mouse

39S ribosomal protein L40, mitochondrial is a protein that in humans is encoded by the MRPL40 gene.

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. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000185608 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022706 – 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.
↑ Funke B, Puech A, Saint-Jore B, Pandita R, Skoultchi A, Morrow B (Dec 1998). "Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11". Genomics. 53 (2): 146–54. doi:10.1006/geno.1998.5488. PMID 9790763.
↑ Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, Watanabe K, Tanaka T (Sep 2001). "The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders". Genomics. 77 (1–2): 65–70. doi:10.1006/geno.2001.6622. PMID 11543634.
1 2 "Entrez Gene: MRPL40 mitochondrial ribosomal protein L40".

Goldschmidt-Reisin S, Kitakawa M, Herfurth E, et al. (1999). "Mammalian mitochondrial ribosomal proteins. N-terminal amino acid sequencing, characterization, and identification of corresponding gene sequences". J. Biol. Chem. 273 (52): 34828–36. doi:10.1074/jbc.273.52.34828. PMID 9857009.
Hildebrandt T, Preiherr J, Klostermann S, et al. (1999). "Identification of URIM, a novel gene up-regulated in metastasis". Anticancer Res. 19 (1A): 525–30. PMID 10226592.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Zhang Z, Gerstein M (2003). "Identification and characterization of over 100 mitochondrial ribosomal protein pseudogenes in the human genome". Genomics. 81 (5): 468–80. doi:10.1016/S0888-7543(03)00004-1. PMID 12706105.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10) R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000185608 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022706 – 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.

[pmid9790763-5] Funke B, Puech A, Saint-Jore B, Pandita R, Skoultchi A, Morrow B (Dec 1998). "Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11". Genomics. 53 (2): 146–54. doi:10.1006/geno.1998.5488. PMID 9790763.

[pmid11543634-6] Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, Watanabe K, Tanaka T (Sep 2001). "The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders". Genomics. 77 (1–2): 65–70. doi:10.1006/geno.2001.6622. PMID 11543634.

[entrez-7] 1 2 "Entrez Gene: MRPL40 mitochondrial ribosomal protein L40".

Mitochondrial ribosomal protein L40

References

Further reading