Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6135
Gene name	Ribosomal protein L11
Gene symbol	RPL11
Synonyms (NCBI Gene)	DBA7GIG34L11uL5
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

Show/Hide all (15)

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

Show/Hide all (10)

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

Show/Hide all (60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000027	Process	Ribosomal large subunit assembly	IMP	24120868
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0002181	Process	Cytoplasmic translation	IDA	25957688
GO:0002181	Process	Cytoplasmic translation	NAS	25901680
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	TAS	7748210
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	IDA	23636399, 32669547
GO:0003735	Function	Structural constituent of ribosome	IEA
GO:0003735	Function	Structural constituent of ribosome	IMP	18697920
GO:0003735	Function	Structural constituent of ribosome	NAS	12962325
GO:0003735	Function	Structural constituent of ribosome	TAS	7748210
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, 30021884, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	23776465, 24120868
GO:0005730	Component	Nucleolus	HDA	16791210
GO:0005730	Component	Nucleolus	IDA	15195100, 23776465
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	HDA	16791210
GO:0005737	Component	Cytoplasm	IDA	15314173, 24120868
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	25901680
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IEA
GO:0006364	Process	RRNA processing	IMP	18697920
GO:0006412	Process	Translation	IBA
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	12962325
GO:0006412	Process	Translation	TAS	7748210
GO:0006605	Process	Protein targeting	IMP	15195100
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:0019843	Function	RRNA binding	IEA
GO:0022625	Component	Cytosolic large ribosomal subunit	HDA	12962325
GO:0022625	Component	Cytosolic large ribosomal subunit	IBA
GO:0022625	Component	Cytosolic large ribosomal subunit	IDA	25957688, 32669547
GO:0022625	Component	Cytosolic large ribosomal subunit	IEA
GO:0022625	Component	Cytosolic large ribosomal subunit	IPI	25901680
GO:0022625	Component	Cytosolic large ribosomal subunit	TAS	7748210
GO:0022626	Component	Cytosolic ribosome	IDA	23636399
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	IEA
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	IEA
GO:0034504	Process	Protein localization to nucleus	ISS
GO:0042273	Process	Ribosomal large subunit biogenesis	IMP	18697920
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:1901798	Process	Positive regulation of signal transduction by p53 class mediator	IEA
GO:1904667	Process	Negative regulation of ubiquitin protein ligase activity	IMP	18560357
GO:1990904	Component	Ribonucleoprotein complex	IEA
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

MIM	HGNC	e!Ensembl
604175	10301	ENSG00000142676

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

Interactions

View interactions

	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 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)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anemia	Likely pathogenic	rs1570566714	RCV001003786	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diamond-Blackfan anemia	Pathogenic; Likely pathogenic	rs2124429127, rs2124429140, rs2124432051, rs2124429146, rs2124430919, rs2124429183, rs2523394868, rs2523400126, rs2523391493, rs2523403053, rs2523404237, rs2523395126, rs151155897, rs2523398100, rs2523400044 View all (12 more)	RCV001388016 RCV001381985 RCV002359168 RCV001966162 RCV001989229 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan anemia 7	Pathogenic; Likely pathogenic	rs587777119, rs587777120, rs2523395201, rs2523395096, rs2523391493, rs121434389, rs1570566590, rs151155897, rs2523395104, rs1553121689, rs1553121678, rs1644530053	RCV000087040 RCV000087041 RCV002283845 RCV002287313 RCV005635519 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Reticulocytopenia	Likely pathogenic	rs1570566714	RCV001003786	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RPL11-related disorder	Pathogenic	rs1570566590	RCV003415663	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANEMIA, DIAMOND-BLACKFAN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35766008, 38176923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	19061985, 19191325, 19773262, 20378560, 21435509, 22510774, 22833095, 24341334, 25058426, 25132370, 28742285, 29225165, 30700418		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	LHGDN	19061985		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	19061985, 19191325, 23812780, 28297620		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	CLINVAR_DG	19061985, 19773262		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Macrocytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	28595297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29081411, 33305312, 36984424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32316188, 34433556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26892688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	19061985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26892688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	35154512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diamond-Blackfan Anemia 1	Diamond-Blackfan anemia	BEFREE	24341334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diamond-Blackfan Anemia 7	Diamond-Blackfan anemia	UNIPROT_DG	19061985, 19191325		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 7	Diamond-Blackfan anemia	GENOMICS_ENGLAND_DG	19061985, 19191325, 23812780		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 7	Diamond-Blackfan anemia	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 7	Diamond-Blackfan anemia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	19773262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26892688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26892688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	GENOMICS_ENGLAND_DG	19061985, 19191325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26892688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29662167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24045667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31022952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36107539	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27856536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28122227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29662167		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24045667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24045667	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33305312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

RPL11 (ribosomal protein L11)