NP_001012.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
15,550 Da
NCBI Official Full Name
40S ribosomal protein S17
NCBI Official Synonym Full Names
ribosomal protein S17
NCBI Official Synonym Symbols
S17; DBA4; RPS17L; RPS17L1; RPS17L2 [Similar Products]
NCBI Protein Information
40S ribosomal protein S17
UniProt Protein Name
40S ribosomal protein S17
UniProt Entry Name
RS17_HUMAN
NCBI Summary for RPS17
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four 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 S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]
UniProt Comments for RPS17
RPS17: Defects in RPS17 are the cause of Diamond-Blackfan anemia type 4 (DBA4). DBA4 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 S17e family.
Protein type: Ribosomal; Translation
Chromosomal Location of Human Ortholog: 15q
Cellular Component: focal adhesion; membrane; ribosome; cytosol
Molecular Function: structural constituent of ribosome
Biological Process: SRP-dependent cotranslational protein targeting to membrane; translation; viral reproduction; translational termination; viral infectious cycle; erythrocyte homeostasis; ribosomal small subunit biogenesis and assembly; cellular protein metabolic process; translational elongation; translational initiation; mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit assembly and maintenance; viral transcription; gene expression; rRNA processing
Disease: Diamond-blackfan Anemia 4
Research Articles on RPS17
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with RPS17 elisa kit
Pathways associated with RPS17 elisa kit
Diseases associated with RPS17 elisa kit
Organs/Tissues associated with RPS17 elisa kit
|