MRPL40

39S ribosomal protein L40, mitochondrial is a protein that in humans is encoded by the MRPL40 gene.[4][5][6]

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)[1] Band 22q11.21 Start 19,431,902 bp[1] End 19,436,075 bp[1]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • RNA binding Cellular component • mitochondrial inner membrane • ribosome • cell nucleus • mitochondrion • mitochondrial large ribosomal subunit • mitochondrial ribosome Biological process • anatomical structure morphogenesis • mitochondrial translational elongation • mitochondrial translational termination Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	64976	18100
Ensembl	ENSG00000185608	n/a
UniProt	Q9NQ50	Q9Z2Q5
RefSeq (mRNA)	NM_003776 NM_001318151 NM_001318152	NM_010922
RefSeq (protein)	NP_001305080 NP_001305081 NP_003767	NP_035052
Location (UCSC)	Chr 22: 19.43 – 19.44 Mb	n/a
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

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.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000185608 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. 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.
5. 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.
6. "Entrez Gene: MRPL40 mitochondrial ribosomal protein L40".

Further reading

• 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. 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.