60S ribosomal protein L38

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RPL38
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRPL38, L38, ribosomal protein L38
External IDsOMIM: 604182 MGI: 1914921 HomoloGene: 87098 GeneCards: RPL38
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for RPL38
Genomic location for RPL38
Band17q25.1Start74,203,582 bp[1]
End74,210,655 bp[1]
RNA expression pattern
PBB GE RPL38 202029 x at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001035258
NM_000999

NM_001048057
NM_001048058
NM_023372
NM_001362918

RefSeq (protein)

NP_000990
NP_001030335

NP_001041522
NP_001041523
NP_075861
NP_001349847

Location (UCSC)Chr 17: 74.2 – 74.21 MbChr 11: 114.67 – 114.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

60S ribosomal protein L38 is a protein that in humans is encoded by the RPL38 gene.[5][6]

Gene[edit]

The human RPL38 gene resides on the long arm of chromosome 17 at 17q25.1. It consists of five exons spread out over a distance of 6223 bp. The 213 nucleotide open reading frame encodes a 70 amino acid protein. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the angiotensin II receptor type 1 gene.[6]

Function[edit]

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L38E family of ribosomal proteins. It is located in the cytoplasm.[6]

Genetics[edit]

An ~18kbp deletion, encompassing the entire Rpl38 locus underlies the phenotype in the Tail-short (Ts) mutant mouse. In homozygous state, Ts mice die at around 3–4 days of gestation. Ts/+ heterozygous embryos undergo an anemia and develop skeletal malformations. During the perinatal period ~30% of the heterozygotes die. The surviving heterozygous Ts exhibit great variations of shortened, kinked and otherwise malformed tails.[7] They also weigh less than their wild-type littermates but have otherwise a normal life span. Additionally, Ts mice develop a conductive hearing loss shortly after the onset of hearing at around 3–4 weeks of age. The hearing loss is the result of ectopic ossification along the round window ridge at the outside of the cochlea, massive deposition of cholesterol crystals in the middle ear cavity, an enlarged Eustachian tube and a chronic otitis media with effusion.[8]

In Drosophila melanogaster, loss-of-function alleles of RPL38, cause embryonic lethality in homozygotes and protracted growth and shortened bristles in heterozygotes. Due to the haplo-insufficient nature of the mutation, the phenotype is inherited as a dominant trait.[9]

In humans, mutations in ribosomal proteins cause Diamond-Blackfan Anemia. However, no disease has yet been linked to mutations in human RPL38.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172809 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057322 - 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. ^ Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ, Tanaka T, Page DC (Aug 1998). "A map of 75 human ribosomal protein genes". Genome Res. 8 (5): 509–23. doi:10.1101/gr.8.5.509. PMID 9582194.
  6. ^ a b c "Entrez Gene: RPL38 ribosomal protein L38".
  7. ^ Morgan, WC (1950). "A new tail-short mutation in the mouse whose lethal effects are conditioned by the residual genotypes". The Journal of Heredity. 41 (8): 208–15. PMID 14779008.
  8. ^ Noben-Trauth K, Latoche JR (January 2011). "Ectopic Mineralization in the Middle Ear and Chronic Otitis Media with Effusion Caused by RPL38 Deficiency in the Tail-short (Ts) Mouse". J. Biol. Chem. 286 (4): 3079–3093. doi:10.1074/jbc.M110.184598. PMC 3024801. PMID 21062742.
  9. ^ Marygold, S. J.; Coelho, C.; Leevers, S. (2005). "Genetic Analysis of RpL38 and RpL5, Two Minute Genes Located in the Centric Heterochromatin of Chromosome 2 of Drosophila melanogaster". Genetics. 169 (2): 683–695. doi:10.1534/genetics.104.034124. PMC 1449105. PMID 15520262.

External links[edit]

Further reading[edit]