NP_001017.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
40S ribosomal protein S24 isoform c
NCBI Official Synonym Full Names
ribosomal protein S24
NCBI Official Synonym Symbols
NCBI Protein Information
40S ribosomal protein S24
UniProt Protein Name
40S ribosomal protein S24
UniProt Synonym Protein Names
Small ribosomal subunit protein eS24
NCBI Summary for RS24
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 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]
UniProt Comments for RS24
RPS24: Required for processing of pre-rRNA and maturation of 40S ribosomal subunits. Defects in RPS24 are the cause of Diamond-Blackfan anemia type 3 (DBA3). DBA3 is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Belongs to the ribosomal protein S24e family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: RNA-binding; Ribosomal; Translation
Chromosomal Location of Human Ortholog: 10q22.3
Cellular Component: cytosol; membrane; nucleoplasm; nucleus; small ribosomal subunit
Molecular Function: RNA binding; translation initiation factor binding
Biological Process: erythrocyte homeostasis; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit biogenesis and assembly; rRNA processing; SRP-dependent cotranslational protein targeting to membrane; translation; translational initiation; viral transcription
Disease: Diamond-blackfan Anemia 3
Research Articles on RS24
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Products associated with RS24 recombinant protein
Pathways associated with RS24 recombinant protein
Diseases associated with RS24 recombinant protein
Organs/Tissues associated with RS24 recombinant protein
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