RPS19 (ribosomal protein S19)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6223 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Ribosomal protein S19 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
RPS19 |
SynonymsGene synonyms aliases
|
DBA, DBA1, LOH19CR1, S19, eS19 |
ChromosomeChromosome number
|
19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19q13.2 |
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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal pro |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs104894716 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs104894717 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant |
rs138938035 |
G>A,T |
Pathogenic |
Initiator codon variant, missense variant |
rs143477104 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs146366047 |
G>A,C |
Likely-pathogenic |
Splice acceptor variant |
rs147508369 |
C>T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
rs782329429 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1555839154 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555839161 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000028 |
Process |
Ribosomal small subunit assembly |
IBA |
21873635 |
GO:0000028 |
Process |
Ribosomal small subunit assembly |
IMP |
17053056 |
GO:0000184 |
Process |
Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
TAS |
|
GO:0000462 |
Process |
Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) |
IMP |
16990592, 17053056 |
GO:0002548 |
Process |
Monocyte chemotaxis |
IDA |
11226885 |
GO:0003723 |
Function |
RNA binding |
HDA |
22681889 |
GO:0003723 |
Function |
RNA binding |
IBA |
21873635 |
GO:0003735 |
Function |
Structural constituent of ribosome |
HDA |
15883184 |
GO:0003735 |
Function |
Structural constituent of ribosome |
IBA |
21873635 |
GO:0003735 |
Function |
Structural constituent of ribosome |
IMP |
18697920 |
GO:0005515 |
Function |
Protein binding |
IPI |
16266891, 24965446, 32296183, 32814053 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005730 |
Component |
Nucleolus |
IDA |
12586610, 16289379, 17517689 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
17517689 |
GO:0005829 |
Component |
Cytosol |
IDA |
11716516 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005840 |
Component |
Ribosome |
IDA |
17517689 |
GO:0005925 |
Component |
Focal adhesion |
HDA |
21423176 |
GO:0006364 |
Process |
RRNA processing |
IMP |
18697920 |
GO:0006412 |
Process |
Translation |
IC |
8706699 |
GO:0006413 |
Process |
Translational initiation |
TAS |
|
GO:0006614 |
Process |
SRP-dependent cotranslational protein targeting to membrane |
TAS |
|
GO:0007000 |
Process |
Nucleolus organization |
IMP |
17053056 |
GO:0009991 |
Process |
Response to extracellular stimulus |
TAS |
16289379 |
GO:0014069 |
Component |
Postsynaptic density |
EXP |
21170055 |
GO:0014069 |
Component |
Postsynaptic density |
IDA |
21170055 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0017134 |
Function |
Fibroblast growth factor binding |
IPI |
11716516 |
GO:0019083 |
Process |
Viral transcription |
TAS |
|
GO:0019901 |
Function |
Protein kinase binding |
IPI |
16266891 |
GO:0022627 |
Component |
Cytosolic small ribosomal subunit |
HDA |
15883184 |
GO:0022627 |
Component |
Cytosolic small ribosomal subunit |
IBA |
21873635 |
GO:0022627 |
Component |
Cytosolic small ribosomal subunit |
IDA |
8706699 |
GO:0030218 |
Process |
Erythrocyte differentiation |
IMP |
16289379 |
GO:0030490 |
Process |
Maturation of SSU-rRNA |
IMP |
16990592, 17053056 |
GO:0031640 |
Process |
Killing of cells of other organism |
IDA |
15019208 |
GO:0042274 |
Process |
Ribosomal small subunit biogenesis |
IMP |
18697920 |
GO:0042802 |
Function |
Identical protein binding |
IPI |
11226885 |
GO:0050829 |
Process |
Defense response to Gram-negative bacterium |
IDA |
15019208 |
GO:0051272 |
Process |
Positive regulation of cellular component movement |
TAS |
16289379 |
GO:0060265 |
Process |
Positive regulation of respiratory burst involved in inflammatory response |
IDA |
15750715 |
GO:0060266 |
Process |
Negative regulation of respiratory burst involved in inflammatory response |
IDA |
15750715 |
GO:0061844 |
Process |
Antimicrobial humoral immune response mediated by antimicrobial peptide |
IDA |
15019208 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
20458337 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P39019 |
Protein name |
Small ribosomal subunit protein eS19 (40S ribosomal protein S19) |
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). Required for pre-rRNA processing and maturation of 40S ribosom |
PDB |
4UG0
,
4V6X
,
5A2Q
,
5AJ0
,
5FLX
,
5LKS
,
5OA3
,
5T2C
,
5VYC
,
6G18
,
6G4S
,
6G4W
,
6G51
,
6G53
,
6G5H
,
6G5I
,
6IP5
,
6IP6
,
6IP8
,
6OLE
,
6OLF
,
6OLG
,
6OLI
,
6OLZ
,
6OM0
,
6OM7
,
6QZP
,
6XA1
,
6Y0G
,
6Y2L
,
6Y57
,
6YBS
,
6Z6L
,
6Z6M
,
6Z6N
,
6ZLW
,
6ZM7
,
6ZME
,
6ZMI
,
6ZMO
,
6ZMT
,
6ZMW
,
6ZN5
,
6ZOJ
,
6ZOL
,
6ZON
,
6ZP4
,
6ZUO
,
6ZV6
,
6ZVH
,
6ZVJ
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01090 |
Ribosomal_S19e |
5 → 141 |
Ribosomal protein S19e |
Family |
|
Sequence |
|
Sequence length |
145 |
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 |
11112378, 28297620, 15384984, 15059149, 10590074, 9988267, 15075082, 25946618 |
Colonic neoplasms |
Malignant tumor of colon |
rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 |
|
Diamond-blackfan anemia |
Diamond-Blackfan Anemia 1 |
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 |
17517689, 9988267, 15384984, 10590074, 18412286, 12750732, 1746615, 12586610, 11112378 |
Gastric cancer |
Hereditary Diffuse Gastric Cancer |
rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208 |
21364753 |
Leukemia |
Acute leukemia |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
|
Migraine |
Migraine Disorders |
rs794727411 |
|
Myelodysplasia |
Myelodysplasia |
rs141601766, rs1261178797 |
|
Myelodysplastic syndrome |
MYELODYSPLASTIC SYNDROME |
rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587 |
|
Parietal foramina |
PARIETAL FORAMINA |
rs104894191, rs104894192, rs104894193, rs587776614, rs104894196, rs104894197, rs387906325, rs2113498725, rs104893896, rs121912971, rs121912972, rs1561643060, rs587777700, rs587777702 |
|
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
17199135 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Aortic coarctation |
Aortic coarctation |
|
|
Blackfan-diamond anemia |
Blackfan-Diamond anemia |
|
|
Congenital hypoplasia of radius |
Congenital hypoplasia of radius |
|
|
Congenital hypoplastic anemia |
Congenital hypoplastic anemia |
|
|
Congestive heart failure |
Congestive heart failure |
rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 |
|
Dwarfism |
Dwarfism |
|
|
High palate |
Byzanthine arch palate |
|
|
Hypoplasia of thumb |
Hypoplasia of thumb |
|
15384984, 1746615 |
Micrognathism |
Micrognathism |
|
|
Neck webbing |
Neck webbing |
|
|
Osteosarcoma |
Osteosarcoma |
|
|
Prostatic neoplasms |
Prostatic Neoplasms |
|
17199135 |
Stomach neoplasms |
Malignant neoplasm of stomach, Stomach Neoplasms |
|
21364753 |
Strabismus |
Strabismus |
|
|
Thrombocytosis |
Thrombocytosis |
|
|
Thumb aplasia |
Thumb aplasia |
|
1746615, 15384984 |
|
|
|