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RPS17 (ribosomal protein S17)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6218
Gene nameGene Name - the full gene name approved by the HGNC.
Ribosomal protein S17
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RPS17
SynonymsGene synonyms aliases
DBA4, RPS17L, RPS17L1, RPS17L2, S17, eS17
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs6991 A>C,G Pathogenic, uncertain-significance Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs116840811 A>C Pathogenic Initiator codon variant, non coding transcript variant, missense variant
rs116840812 CT>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051166 hsa-miR-16-5p CLASH 23622248
MIRT049945 hsa-miR-30a-5p CLASH 23622248
MIRT048036 hsa-miR-148a-3p CLASH 23622248
MIRT047810 hsa-miR-30d-5p CLASH 23622248
MIRT046624 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003735 Function Structural constituent of ribosome HDA 15883184
GO:0003735 Function Structural constituent of ribosome IMP 18697920
GO:0003735 Function Structural constituent of ribosome NAS 17647292, 18412286
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P08708
Protein name Small ribosomal subunit protein eS17 (40S ribosomal protein S17)
Protein function Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Part of the small subunit (SSU) processome, first precursor of
PDB 4UG0 , 4V6X , 5A2Q , 5AJ0 , 5FLX , 5LKS , 5OA3 , 5T2C , 5VYC , 6FEC , 6G18 , 6G4S , 6G4W , 6G51 , 6G53 , 6G5H , 6G5I , 6IP5 , 6IP6 , 6IP8 , 6OLE , 6OLF , 6OLG , 6OLI , 6OLZ , 6OM0 , 6OM7 , 6QZP , 6XA1 , 6Y0G , 6Y2L , 6Y57 , 6YBD , 6YBS , 6YBW , 6Z6L , 6Z6M , 6Z6N , 6ZLW , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 6ZMT , 6ZMW , 6ZN5 , 6ZOJ , 6ZOK , 6ZOL , 6ZON , 6ZP4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00833 Ribosomal_S17e
1 122
Ribosomal S17
Family
Sequence
Sequence length 135
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Ribosome
Coronavirus disease - COVID-19
  L13a-mediated translational silencing of Ceruloplasmin expression
SRP-dependent cotranslational protein targeting to membrane
Viral mRNA Translation
Major pathway of rRNA processing in the nucleolus and cytosol
Translation initiation complex formation
Formation of a pool of free 40S subunits
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Macrocytic, Anemia, Diamond-Blackfan rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 17647292, 28297620
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Diamond-blackfan anemia Diamond-Blackfan Anemia 4 rs121434389, rs1570566590, rs151155897, rs143951267, rs267607023, rs786200892, rs148622862, rs397507554, rs121434405, rs1571026775, rs142156224, rs267607021, rs1581931541, rs267607022, rs61762293, rs104894711, rs104894716, rs121908649, rs786200935, rs786200936, rs104894188, rs104894189, rs116840806, rs116840811, rs116840812, rs116840808, rs116840809, rs397518451, rs6991, rs587777117, rs587777118, rs587777119, rs587777120, rs587777568, rs587777569, rs148942765, rs786203998, rs797045919, rs878854146, rs886039545, rs1057519624, rs144337183, rs138938035, rs1057520746, rs1060503527, rs1060503688, rs1085307115, rs1085307119, rs1064794604, rs1555841379, rs1553121909, rs1555208596, rs1555841301, rs1555841356, rs1553121678, rs1553121795, rs1553121684, rs1553811551, rs1554841994, rs1555524370, rs1555524354, rs1558283792, rs1558283853, rs1558284033, rs1558284062, rs1560120302, rs869066130, rs1568796003, rs1567287990, rs1568425218, rs1564307664, rs1570566592, rs148673599, rs1571024385, rs1571024430, rs1581931439, rs1589326484, rs1570569383, rs146366047, rs111833764, rs1571032029, rs1572360944, rs1581106084, rs138979590, rs1644516691, rs1686990557, rs1686990676, rs149420497, rs1765648528, rs113752862, rs1704930969, rs1553284997 22045982, 23812780, 19061985
Leukemia Acute leukemia rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601
Unknown
Disease name Disease term dbSNP ID References
Blackfan-diamond anemia Blackfan-Diamond anemia
Dwarfism Dwarfism
Erythroid hypoplasia Erythroid hypoplasia

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