MRPL40
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMRPL40, MRP-L22, MRPL22, NLVCF, URIM, L40mt, MRP-L40, mitochondrial ribosomal protein L40
External IDsOMIM: 605089 MGI: 1332635 HomoloGene: 2800 GeneCards: MRPL40
Orthologs
SpeciesHumanMouse
Entrez

64976

18100

Ensembl

ENSG00000185608

ENSMUSG00000022706

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 MbChr 16: 18.69 – 18.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000185608 - Ensembl, May 2017
  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.
  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.
  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.
  7. 1 2 "Entrez Gene: MRPL40 mitochondrial ribosomal protein L40".

Further reading


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