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	6137
Gene name	Ribosomal protein L13
Gene symbol	RPL13
Synonyms (NCBI Gene)	BBC1D16S444ED16S44EL13SEMDISTeL13
Chromosome	16
Chromosome location	16q24.3\|17p11.2
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 (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1597675888	G>A,T	Pathogenic	Splice donor variant
rs1597675890	T>C	Pathogenic	Splice donor variant
rs1597676540	G>C,T	Pathogenic	Coding sequence variant, missense variant

198

Show/Hide all (198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031830	hsa-miR-16-5p	Proteomics	18668040
MIRT050197	hsa-miR-26a-5p	CLASH	23622248
MIRT039784	hsa-miR-615-3p	CLASH	23622248
MIRT039784	hsa-miR-615-3p	CLASH	23622248
MIRT037675	hsa-miR-744-5p	CLASH	23622248
MIRT1315862	hsa-miR-1260	CLIP-seq
MIRT1315863	hsa-miR-1260b	CLIP-seq
MIRT1315864	hsa-miR-188-3p	CLIP-seq
MIRT1315865	hsa-miR-1915	CLIP-seq
MIRT1315866	hsa-miR-224	CLIP-seq
MIRT1315867	hsa-miR-3150a-5p	CLIP-seq
MIRT1315868	hsa-miR-3150b-5p	CLIP-seq
MIRT1315869	hsa-miR-3156-3p	CLIP-seq
MIRT1315870	hsa-miR-3189-5p	CLIP-seq
MIRT1315871	hsa-miR-329	CLIP-seq
MIRT1315872	hsa-miR-338-3p	CLIP-seq
MIRT1315873	hsa-miR-3607-3p	CLIP-seq
MIRT1315874	hsa-miR-362-3p	CLIP-seq
MIRT1315875	hsa-miR-3686	CLIP-seq
MIRT1315876	hsa-miR-3691-3p	CLIP-seq
MIRT1315877	hsa-miR-4323	CLIP-seq
MIRT1315878	hsa-miR-4519	CLIP-seq
MIRT1315879	hsa-miR-4714-5p	CLIP-seq
MIRT1315880	hsa-miR-4726-3p	CLIP-seq
MIRT1315881	hsa-miR-4786-3p	CLIP-seq
MIRT1315882	hsa-miR-662	CLIP-seq
MIRT1315883	hsa-miR-1207-5p	CLIP-seq
MIRT1315862	hsa-miR-1260	CLIP-seq
MIRT1315863	hsa-miR-1260b	CLIP-seq
MIRT1315884	hsa-miR-1269	CLIP-seq
MIRT1315885	hsa-miR-1269b	CLIP-seq
MIRT1315886	hsa-miR-1288	CLIP-seq
MIRT1315887	hsa-miR-1537	CLIP-seq
MIRT1315864	hsa-miR-188-3p	CLIP-seq
MIRT1315865	hsa-miR-1915	CLIP-seq
MIRT1315866	hsa-miR-224	CLIP-seq
MIRT1315888	hsa-miR-2355-5p	CLIP-seq
MIRT1315867	hsa-miR-3150a-5p	CLIP-seq
MIRT1315868	hsa-miR-3150b-5p	CLIP-seq
MIRT1315869	hsa-miR-3156-3p	CLIP-seq
MIRT1315889	hsa-miR-3158-3p	CLIP-seq
MIRT1315870	hsa-miR-3189-5p	CLIP-seq
MIRT1315871	hsa-miR-329	CLIP-seq
MIRT1315890	hsa-miR-331-3p	CLIP-seq
MIRT1315873	hsa-miR-3607-3p	CLIP-seq
MIRT1315874	hsa-miR-362-3p	CLIP-seq
MIRT1315875	hsa-miR-3686	CLIP-seq
MIRT1315876	hsa-miR-3691-3p	CLIP-seq
MIRT1315891	hsa-miR-4286	CLIP-seq
MIRT1315877	hsa-miR-4323	CLIP-seq
MIRT1315892	hsa-miR-4422	CLIP-seq
MIRT1315893	hsa-miR-4459	CLIP-seq
MIRT1315894	hsa-miR-451	CLIP-seq
MIRT1315895	hsa-miR-4515	CLIP-seq
MIRT1315878	hsa-miR-4519	CLIP-seq
MIRT1315896	hsa-miR-4529-3p	CLIP-seq
MIRT1315897	hsa-miR-4685-5p	CLIP-seq
MIRT1315898	hsa-miR-4704-3p	CLIP-seq
MIRT1315879	hsa-miR-4714-5p	CLIP-seq
MIRT1315899	hsa-miR-4721	CLIP-seq
MIRT1315900	hsa-miR-4722-5p	CLIP-seq
MIRT1315880	hsa-miR-4726-3p	CLIP-seq
MIRT1315901	hsa-miR-4736	CLIP-seq
MIRT1315902	hsa-miR-4740-5p	CLIP-seq
MIRT1315903	hsa-miR-4763-3p	CLIP-seq
MIRT1315904	hsa-miR-4779	CLIP-seq
MIRT1315881	hsa-miR-4786-3p	CLIP-seq
MIRT1315905	hsa-miR-498	CLIP-seq
MIRT1315906	hsa-miR-499-3p	CLIP-seq
MIRT1315907	hsa-miR-499a-3p	CLIP-seq
MIRT1315908	hsa-miR-511	CLIP-seq
MIRT1315909	hsa-miR-605	CLIP-seq
MIRT1315882	hsa-miR-662	CLIP-seq
MIRT1315910	hsa-miR-665	CLIP-seq
MIRT1315866	hsa-miR-224	CLIP-seq
MIRT1315870	hsa-miR-3189-5p	CLIP-seq
MIRT2093942	hsa-miR-3660	CLIP-seq
MIRT2093943	hsa-miR-3977	CLIP-seq
MIRT2093944	hsa-miR-421	CLIP-seq
MIRT2093945	hsa-miR-4256	CLIP-seq
MIRT1315877	hsa-miR-4323	CLIP-seq
MIRT1315894	hsa-miR-451	CLIP-seq
MIRT1315878	hsa-miR-4519	CLIP-seq
MIRT2093946	hsa-miR-4526	CLIP-seq
MIRT1315898	hsa-miR-4704-3p	CLIP-seq
MIRT2093947	hsa-miR-4709-5p	CLIP-seq
MIRT2093948	hsa-miR-4781-3p	CLIP-seq
MIRT1315881	hsa-miR-4786-3p	CLIP-seq
MIRT1315906	hsa-miR-499-3p	CLIP-seq
MIRT1315907	hsa-miR-499a-3p	CLIP-seq
MIRT2093949	hsa-miR-520f	CLIP-seq
MIRT2093943	hsa-miR-3977	CLIP-seq
MIRT2093944	hsa-miR-421	CLIP-seq
MIRT1315892	hsa-miR-4422	CLIP-seq
MIRT1315898	hsa-miR-4704-3p	CLIP-seq
MIRT2093947	hsa-miR-4709-5p	CLIP-seq
MIRT1315905	hsa-miR-498	CLIP-seq
MIRT1315906	hsa-miR-499-3p	CLIP-seq
MIRT1315907	hsa-miR-499a-3p	CLIP-seq
MIRT2093949	hsa-miR-520f	CLIP-seq
MIRT2318436	hsa-miR-548a-5p	CLIP-seq
MIRT2318437	hsa-miR-548ab	CLIP-seq
MIRT2318438	hsa-miR-548ak	CLIP-seq
MIRT2318439	hsa-miR-548b-5p	CLIP-seq
MIRT2318440	hsa-miR-548c-5p	CLIP-seq
MIRT2318441	hsa-miR-548d-5p	CLIP-seq
MIRT2318442	hsa-miR-548h	CLIP-seq
MIRT2318443	hsa-miR-548i	CLIP-seq
MIRT2318444	hsa-miR-548j	CLIP-seq
MIRT2318445	hsa-miR-548w	CLIP-seq
MIRT2318446	hsa-miR-548y	CLIP-seq
MIRT2318447	hsa-miR-559	CLIP-seq
MIRT2614226	hsa-miR-106a	CLIP-seq
MIRT2614227	hsa-miR-106b	CLIP-seq
MIRT2614228	hsa-miR-1226	CLIP-seq
MIRT2614229	hsa-miR-17	CLIP-seq
MIRT2614230	hsa-miR-20a	CLIP-seq
MIRT2614231	hsa-miR-20b	CLIP-seq
MIRT2614232	hsa-miR-29a	CLIP-seq
MIRT2614233	hsa-miR-29b	CLIP-seq
MIRT2614234	hsa-miR-29c	CLIP-seq
MIRT2614235	hsa-miR-302a	CLIP-seq
MIRT2614236	hsa-miR-302b	CLIP-seq
MIRT2614237	hsa-miR-302c	CLIP-seq
MIRT2614238	hsa-miR-302d	CLIP-seq
MIRT2614239	hsa-miR-302e	CLIP-seq
MIRT2614240	hsa-miR-3152-5p	CLIP-seq
MIRT2614241	hsa-miR-3187-3p	CLIP-seq
MIRT2614242	hsa-miR-3200-3p	CLIP-seq
MIRT2614243	hsa-miR-3545-3p	CLIP-seq
MIRT2614244	hsa-miR-3663-3p	CLIP-seq
MIRT2614245	hsa-miR-3663-5p	CLIP-seq
MIRT2614246	hsa-miR-372	CLIP-seq
MIRT2614247	hsa-miR-373	CLIP-seq
MIRT2614248	hsa-miR-3973	CLIP-seq
MIRT2614249	hsa-miR-4435	CLIP-seq
MIRT2614250	hsa-miR-4635	CLIP-seq
MIRT2614251	hsa-miR-4677-3p	CLIP-seq
MIRT2614252	hsa-miR-4680-5p	CLIP-seq
MIRT2614253	hsa-miR-4690-3p	CLIP-seq
MIRT2614254	hsa-miR-4701-5p	CLIP-seq
MIRT2614255	hsa-miR-4731-3p	CLIP-seq
MIRT2614256	hsa-miR-4731-5p	CLIP-seq
MIRT2614257	hsa-miR-4755-3p	CLIP-seq
MIRT2093948	hsa-miR-4781-3p	CLIP-seq
MIRT2614258	hsa-miR-4801	CLIP-seq
MIRT2614259	hsa-miR-512-3p	CLIP-seq
MIRT2614260	hsa-miR-519d	CLIP-seq
MIRT2614261	hsa-miR-520a-3p	CLIP-seq
MIRT2614262	hsa-miR-520b	CLIP-seq
MIRT2614263	hsa-miR-520c-3p	CLIP-seq
MIRT2614264	hsa-miR-520d-3p	CLIP-seq
MIRT2614265	hsa-miR-520e	CLIP-seq
MIRT2614266	hsa-miR-520g	CLIP-seq
MIRT2614267	hsa-miR-520h	CLIP-seq
MIRT2614268	hsa-miR-548s	CLIP-seq
MIRT2614269	hsa-miR-588	CLIP-seq
MIRT2614270	hsa-miR-93	CLIP-seq
MIRT2614226	hsa-miR-106a	CLIP-seq
MIRT2614227	hsa-miR-106b	CLIP-seq
MIRT2614229	hsa-miR-17	CLIP-seq
MIRT2614230	hsa-miR-20a	CLIP-seq
MIRT2614231	hsa-miR-20b	CLIP-seq
MIRT2614232	hsa-miR-29a	CLIP-seq
MIRT2614233	hsa-miR-29b	CLIP-seq
MIRT2614234	hsa-miR-29c	CLIP-seq
MIRT2614235	hsa-miR-302a	CLIP-seq
MIRT2614236	hsa-miR-302b	CLIP-seq
MIRT2614237	hsa-miR-302c	CLIP-seq
MIRT2614238	hsa-miR-302d	CLIP-seq
MIRT2614239	hsa-miR-302e	CLIP-seq
MIRT2614241	hsa-miR-3187-3p	CLIP-seq
MIRT2614243	hsa-miR-3545-3p	CLIP-seq
MIRT2614244	hsa-miR-3663-3p	CLIP-seq
MIRT2614245	hsa-miR-3663-5p	CLIP-seq
MIRT2614246	hsa-miR-372	CLIP-seq
MIRT2614247	hsa-miR-373	CLIP-seq
MIRT2614248	hsa-miR-3973	CLIP-seq
MIRT2614249	hsa-miR-4435	CLIP-seq
MIRT2614250	hsa-miR-4635	CLIP-seq
MIRT2614251	hsa-miR-4677-3p	CLIP-seq
MIRT2614252	hsa-miR-4680-5p	CLIP-seq
MIRT2614254	hsa-miR-4701-5p	CLIP-seq
MIRT2614256	hsa-miR-4731-5p	CLIP-seq
MIRT2614257	hsa-miR-4755-3p	CLIP-seq
MIRT2093948	hsa-miR-4781-3p	CLIP-seq
MIRT2614259	hsa-miR-512-3p	CLIP-seq
MIRT2614260	hsa-miR-519d	CLIP-seq
MIRT2614261	hsa-miR-520a-3p	CLIP-seq
MIRT2614262	hsa-miR-520b	CLIP-seq
MIRT2614263	hsa-miR-520c-3p	CLIP-seq
MIRT2614264	hsa-miR-520d-3p	CLIP-seq
MIRT2614265	hsa-miR-520e	CLIP-seq
MIRT2614266	hsa-miR-520g	CLIP-seq
MIRT2614267	hsa-miR-520h	CLIP-seq
MIRT2614268	hsa-miR-548s	CLIP-seq
MIRT2614269	hsa-miR-588	CLIP-seq
MIRT2614270	hsa-miR-93	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001824	Process	Blastocyst development	IEA
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0002181	Process	Cytoplasmic translation	NAS	25901680
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	TAS	9582194
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	31630789
GO:0003735	Function	Structural constituent of ribosome	NAS	12962325
GO:0003735	Function	Structural constituent of ribosome	TAS	9582194
GO:0005515	Function	Protein binding	IPI	17474147, 21044950, 24725412, 24965446, 25416956, 25959826, 28514442, 30021884, 31046837, 32814053, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	25901680
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IMP	31630789
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IEA
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	12962325
GO:0006412	Process	Translation	TAS	9582194
GO:0016020	Component	Membrane	HDA	19946888
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	32669547
GO:0022625	Component	Cytosolic large ribosomal subunit	IEA
GO:0022625	Component	Cytosolic large ribosomal subunit	IPI	25901680
GO:0022626	Component	Cytosolic ribosome	IDA	23636399
GO:0022626	Component	Cytosolic ribosome	TAS	9582194
GO:0045202	Component	Synapse	IEA
GO:0060348	Process	Bone development	IMP	31630789
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
113703	10303	ENSG00000167526

P26373

Protein name

Large ribosomal subunit protein eL13 (60S ribosomal protein L13) (Breast basic conserved protein 1)

Protein function

Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:31630789, PubMed:32669547). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates

PDB

4UG0 , 4V6X , 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 , 8FKP , 8FKQ , 8FKR , 8FKS , 8FKT , 8FKU , 8FKV , 8FKW , 8FKX , 8FKY , 8FKZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01294	Ribosomal_L13e	8 → 187	Ribosomal protein L13e	Family

Tissue specificity

TISSUE SPECIFICITY: Higher levels of expression in benign breast lesions than in carcinomas. {ECO:0000269|PubMed:1301162}.

Sequence

MAPSRNGMVLKPHFHKDWQRRVATWFNQPARKIRRRKARQAKARRIAPRPASGPIRPIVR
CPTVRYHTKVRAGRGFSLEELRVAGIHKKVARTIGISVDPRRRNKSTESLQANVQRLKEY
RSKLILFPRKPSAPKKGDSSAEELKLATQLTGPVMPVRNVYKKEKARVITEEEKNFKAFA
SLRMARANARLFGIRAKRAKEAAEQDVEKKK

Sequence length

211

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spondyloepimetaphyseal dysplasia	Likely pathogenic; Pathogenic	rs1597675888, rs1597675890, rs1597676540	RCV000850627 RCV000850625 RCV000850626 RCV000850628
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type	Likely pathogenic; Pathogenic	rs374646539, rs111631219, rs1597675888, rs1597675890, rs934768094, rs2058757423	RCV002267153 RCV003448923 RCV000991038 RCV000991036 RCV000991037 RCV001175380 RCV001175381

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
RPL13-related disorder	Conflicting classifications of pathogenicity; Likely benign	rs1597676540, rs751199568	RCV003405560 RCV003979208

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	40725227
Alzheimer Disease	Associate	25129075
Anemia Diamond Blackfan	Associate	20116044
Atypical Hemolytic Uremic Syndrome	Associate	37373158
Blount disease	Associate	40725227
Carcinoma Hepatocellular	Associate	28978646
Carcinoma Renal Cell	Associate	25225161
Clear cell metastatic renal cell carcinoma	Associate	25225161
Growth Disorders	Associate	40725227
HEM dysplasia	Associate	40725227
Hypospadias	Associate	40725227
Infertility Male	Associate	36369953
Multiple Sclerosis	Associate	23077530
Multiple Sclerosis Relapsing Remitting	Associate	23077530
Musculoskeletal Diseases	Associate	40725227
Neoplasms	Associate	10027329, 9413939
Neoplasms	Inhibit	10329586
Prostatic Neoplasms	Associate	10027329, 10329586
Retinal Dysplasia	Associate	40725227
Sarcoma Kaposi	Associate	40016701
Spondyloepimetaphyseal Dysplasia X Linked	Associate	40725227
Tibial Neuropathy	Associate	40725227

RPL13 (ribosomal protein L13)