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.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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.
|
|
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 |
|
Migraine |
Migraine Disorders |
rs794727411 |
|
Neutropenia |
Neutropenia |
rs879253882 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Blackfan-diamond anemia |
Blackfan-Diamond anemia |
|
|
Dwarfism |
Dwarfism |
|
|
Erythroid hypoplasia |
Erythroid hypoplasia |
|
|
|
|
|