gene 1,172 words KG: RPS14
Contents

RPS14 Gene - Ribosomal Protein S14

🧬 Gene Info
Gene SymbolRPS14
Chromosome5q
Functionencodes an essential ribosomal protein component of the 40S small ribosomal subunit.
Molecular Weight16 kDa
Amino Acids151 aa
Ensembl IDENSG00000129864
GeneCardsRPS14
Human Protein AtlasRPS14
rRNA binding and stabilizationRPS14 interacts with 18S rRNA, stabilizing the rRNA structure
mRNA bindingThe protein participates in the mRNA entry channel, facilitating mRNA binding and scanning
Translation initiationRPS14 contributes to the formation of the pre-initiation complex (43S PIC)
Small subunit assemblyProper RPS14 incorporation is essential for 40S biogenesis
HaploinsufficiencyMost pathogenic RPS14 variants create null alleles, leading to reduced RPS14 protein levels
Impaired ribosome biogenesisReduced RPS14 availability compromises 40S ribosomal subunit assembly
Selective translational defectErythroid progenitor cells are particularly sensitive to ribosomal stress due to high translational demands
Associated Diseasesneurodegeneration
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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