Mitochondrial ribosomal protein L40

MRPL40
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3J7Y, 3J9M
Identifiers
Aliases	MRPL40, MRP-L22, MRPL22, NLVCF, URIM, L40mt, MRP-L40, mitochondrial ribosomal protein L40
External IDs	OMIM: 605089 MGI: 1332635 HomoloGene: 2800 GeneCards: MRPL40
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
	biceps brachii; ; right ventricle; ; gastrocnemius muscle; ; triceps brachii muscle; ; body of tongue; ; vastus lateralis muscle; ; thoracic diaphragm; ; deltoid muscle; ; bronchial epithelial cell; ; parotid gland;
	Top expressed in
	morula; ; epithelium of stomach; ; primitive streak; ; yolk sac; ; otic placode; ; superior surface of tongue; ; interventricular septum; ; gallbladder; ; abdominal wall; ; endocardial cushion;
	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
	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.^[5]^[6]^[7]

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.^[7]

References[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000185608 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b "Entrez Gene: MRPL40 mitochondrial ribosomal protein L40".

Further reading[edit]

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.

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it.

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

[refGRCm38Ensembl-2] 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] "Entrez Gene: MRPL40 mitochondrial ribosomal protein L40".

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Mitochondrial ribosomal protein L40

References[edit]

Further reading[edit]

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