RPL11 (ribosomal protein L11)

Gene

• Entrez ID: 6135
• Gene name: Ribosomal protein L11
• Gene symbol: RPL11
• Synonyms: DBA7, GIG34, L11, uL5
• Chromosome: 1
• Chromosome location: 1p36.11
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434389	C>T	Pathogenic	Stop gained, coding sequence variant
rs151155897	G>A	Pathogenic	Splice acceptor variant
rs587777119	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777120	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041528	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553121678	CTTCGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553121684	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553121689	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553121795	G>A	Likely-pathogenic	Splice donor variant
rs1570566590	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570566592	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570566714	->CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570568289	->SVA	Pathogenic	Coding sequence variant, inframe indel
rs1570569083	AGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1570569383	A>G	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048974	hsa-miR-92a-3p	CLASH	23622248
MIRT037976	hsa-miR-505-5p	CLASH	23622248
MIRT1315853	hsa-miR-1261	CLIP-seq
MIRT1315854	hsa-miR-4420	CLIP-seq
MIRT1315855	hsa-miR-4681	CLIP-seq
MIRT1315856	hsa-miR-570	CLIP-seq
MIRT1315853	hsa-miR-1261	CLIP-seq
MIRT1315857	hsa-miR-137	CLIP-seq
MIRT1315854	hsa-miR-4420	CLIP-seq
MIRT1315856	hsa-miR-570	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000027	Process	Ribosomal large subunit assembly	IMP	24120868
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS
GO:0002181	Process	Cytoplasmic translation	IDA	25957688
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IBA	21873635
GO:0003735	Function	Structural constituent of ribosome	IBA	21873635
GO:0003735	Function	Structural constituent of ribosome	IMP	18697920
GO:0003735	Function	Structural constituent of ribosome	NAS	12962325
GO:0005515	Function	Protein binding	IPI	15195100, 15314173, 17110929, 17310983, 17373842, 17599065, 18274552, 18560357, 19417104, 19713960, 21145461, 21399665, 21988832, 23507139, 23776465, 24556985, 24965446, 25416956, 25910212, 27829214
GO:0005654	Component	Nucleoplasm	IDA	23776465, 24120868
GO:0005730	Component	Nucleolus	HDA	16791210
GO:0005730	Component	Nucleolus	IDA	15195100, 23776465
GO:0005737	Component	Cytoplasm	HDA	16791210
GO:0005737	Component	Cytoplasm	IDA	15314173, 24120868
GO:0005829	Component	Cytosol	TAS
GO:0006364	Process	RRNA processing	IMP	18697920
GO:0006412	Process	Translation	NAS	12962325
GO:0006413	Process	Translational initiation	TAS
GO:0006605	Process	Protein targeting	IMP	15195100
GO:0006614	Process	SRP-dependent cotranslational protein targeting to membrane	TAS
GO:0008097	Function	5S rRNA binding	IMP	18560357
GO:0010628	Process	Positive regulation of gene expression	IDA	18560357
GO:0016020	Component	Membrane	HDA	19946888
GO:0019083	Process	Viral transcription	TAS
GO:0022625	Component	Cytosolic large ribosomal subunit	HDA	12962325
GO:0022625	Component	Cytosolic large ribosomal subunit	IBA	21873635
GO:0022625	Component	Cytosolic large ribosomal subunit	IDA	25957688
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	18560357
GO:0032092	Process	Positive regulation of protein binding	IMP	18560357
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS
GO:0032991	Component	Protein-containing complex	IDA	15314173
GO:0034504	Process	Protein localization to nucleus	ISS
GO:0042273	Process	Ribosomal large subunit biogenesis	IMP	18697920
GO:0042788	Component	Polysomal ribosome	IDA	25957688
GO:0050821	Process	Protein stabilization	IMP	18560357
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	IMP	24120868
GO:1902255	Process	Positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IEA
GO:1904667	Process	Negative regulation of ubiquitin protein ligase activity	IMP	18560357
GO:1990948	Function	Ubiquitin ligase inhibitor activity	IMP	18560357
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IMP	18560357
GO:2000435	Process	Negative regulation of protein neddylation	IDA	18560357

Other IDs

• MIM: 604175
• HGNC: 10301
• e!Ensembl: ENSG00000142676

Protein

• UniProt ID: P62913
• Protein name: Large ribosomal subunit protein uL5 (60S ribosomal protein L11) (CLL-associated antigen KW-12)
• Protein function: Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:19191325, PubMed:32669547). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded mess
• PDB: 4UG0, 4V6X, 4XXB, 5AJ0, 5LKS, 5T2C, 6IP5, 6IP6, 6IP8, 6LQM, 6LSR, 6LSS, 6LU8, 6OLE, 6OLF, 6OLG, 6OLI, 6OLZ, 6OM0, 6OM7, 6QZP, 6W6L, 6XA1, 6Y0G, 6Y2L, 6Y57, 6Y6X, 6Z6L, 6Z6M, 6Z6N, 6ZM7, 6ZME, 6ZMI, 6ZMO, 7BHP, 7F5S, 7OW7, 7QVP, 7XNX, 7XNY, 8A3D, 8BGU, 8FL0, 8FL2, 8FL3, 8FL4, 8FL6, 8FL7, 8FL9, 8FLA, 8FLB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00281	Ribosomal_L5	10 → 63	Ribosomal protein L5	Domain
  PF00673	Ribosomal_L5_C	67 → 165	ribosomal L5P family C-terminus	Domain

• Sequence:

  MAQDQGEKENPMRELRIRKLCLNICVGESGDRLTRAAKVLEQLTGQTPVFSKARYTVRSF
  GIRRNEKIAVHCTVRGAKAEEILEKGLKVREYELRKNNFSDTGNFGFGIQEHIDLGIKYD
  PSIGIYGLDFYVVLGRPGFSIADKKRRTGCIGAKHRISKEEAMRWFQQKYDGIILPGK

• Sequence length: 178

Pathways

KEGG:

Ribosome
Coronavirus disease - COVID-19

Reactome:

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
Formation of a pool of free 40S subunits
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	23812780, 19191325, 19061985, 28297620, 19773262
Diamond-blackfan anemia	Diamond-Blackfan Anemia 7	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	19191325, 19061985, 23812780
Leukemia	Acute leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601
Migraine	Migraine Disorders	rs794727411
Neutropenia	Neutropenia	rs879253882
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29662167
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease name	Disease term	dbSNP ID	References
Blackfan-diamond anemia	Blackfan-Diamond anemia
Choanal atresia	Choanal Atresia
Dwarfism	Dwarfism
Eosinophilia	Esophagitis
Hypoplasia of thumb	Hypoplasia of thumb		19191325, 19061985
Osteopenia	Osteopenia
Otitis media	Recurrent otitis media	rs601338, rs1047781, rs1800028
Patent foramen ovale	Foramen Ovale, Patent
Prostatic neoplasms	Prostatic Neoplasms		29662167
Secundum atrial septal defect	Ostium secundum atrial septal defect
Sprengel deformity	Sprengel deformity