MRPL40

From Wikipedia, the free encyclopedia

Mitochondrial ribosomal protein L40

Identifiers

MRPL40; FLJ41774; MGC9400; MRP-L22; NLVCF; URIM

External IDs

OMIM: 605089 MGI: 1332635 HomoloGene: 2800

Gene ontology
Molecular Function:	• molecular_function
Cellular Component:	• nucleus • mitochondrion • mitochondrial ribosome • ribonucleoprotein complex
Biological Process:	• anatomical structure morphogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_003776 (mRNA)
NP_003767 (protein)

NM_010922 (mRNA)
NP_035052 (protein)

Location

Chr 22: 17.8 - 17.8 Mb

Chr 16: 18.79 - 18.79 Mb

Pubmed search

[1]

[2]

Mitochondrial ribosomal protein L40, also known as MRPL40, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: MRPL40 mitochondrial ribosomal protein L40.

[edit] Further reading

Funke B, Puech A, Saint-Jore B, et al. (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.
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. 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.
Kenmochi N, Suzuki T, Uechi T, et al. (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.
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. 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. 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. 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. PMID 15489334.