60S ribosomal protein L38

RPL38
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4V6X, 5AJ0, 4UG0, 3J7R, 4UJD, 3J7P, 4D67, 3J92, 4D5Y, 3J7Q, 4UJE, 3J7O, 4UJC
Identifiers
Aliases	RPL38, L38, ribosomal protein L38
External IDs	OMIM: 604182; MGI: 1914921; HomoloGene: 87098; GeneCards: RPL38; OMA:RPL38 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.1 Start 74,203,582 bp[1] End 74,210,655 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 79.82 cM|11 E2 Start 114,559,350 bp[2] End 114,563,157 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon olfactory bulb left testis right testis vena cava thymus internal globus pallidus middle frontal gyrus skin of thigh beta cell Top expressed in yolk sac striatum of neuraxis adrenal gland urinary bladder islet of Langerhans superior frontal gyrus bone marrow embryo cerebellar cortex lens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA binding structural constituent of ribosome Cellular component ribosome cytosol focal adhesion intracellular anatomical structure eukaryotic 80S initiation complex cytosolic large ribosomal subunit postsynaptic density polysomal ribosome synapse Biological process SRP-dependent cotranslational protein targeting to membrane viral transcription regulation of translation middle ear morphogenesis skeletal system development nuclear-transcribed mRNA catabolic process, nonsense-mediated decay hearing 90S preribosome assembly axial mesoderm development translational initiation ossification rRNA processing protein biosynthesis ribonucleoprotein complex assembly cytoplasmic translation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6169 67671 Ensembl ENSG00000172809 ENSMUSG00000057322 UniProt P63173 Q9JJI8 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 Mb Chr 11: 114.56 – 114.56 Mb PubMed search [3] [4]
Wikidata
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60S ribosomal protein L38 is a protein that in humans is encoded by the RPL38 gene.^[5][6]

Gene

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

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

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

External links

• Human RPL38 genome location and RPL38 gene details page in the UCSC Genome Browser.

Further reading

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

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