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	6154
Gene name	Ribosomal protein L26
Gene symbol	RPL26
Synonyms (NCBI Gene)	DBA11L26uL24
Chromosome	17
Chromosome location	17p13.1
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs397518451	CT>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050299	hsa-miR-25-3p	CLASH	23622248
MIRT048514	hsa-miR-100-5p	CLASH	23622248
MIRT043686	hsa-miR-342-3p	CLASH	23622248
MIRT042470	hsa-miR-423-3p	CLASH	23622248
MIRT041355	hsa-miR-193b-3p	CLASH	23622248
MIRT040759	hsa-miR-18a-3p	CLASH	23622248
MIRT039470	hsa-miR-652-3p	CLASH	23622248
MIRT036674	hsa-miR-935	CLASH	23622248
MIRT1316407	hsa-miR-1297	CLIP-seq
MIRT1316408	hsa-miR-26a	CLIP-seq
MIRT1316409	hsa-miR-26b	CLIP-seq
MIRT1316410	hsa-miR-330-3p	CLIP-seq
MIRT1316411	hsa-miR-410	CLIP-seq
MIRT1316412	hsa-miR-4465	CLIP-seq
MIRT1316413	hsa-miR-498	CLIP-seq
MIRT1316414	hsa-miR-568	CLIP-seq
MIRT1316415	hsa-miR-643	CLIP-seq
MIRT1316410	hsa-miR-330-3p	CLIP-seq
MIRT1316411	hsa-miR-410	CLIP-seq
MIRT1316414	hsa-miR-568	CLIP-seq
MIRT1316415	hsa-miR-643	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002181	Process	Cytoplasmic translation	IBA
GO:0002181	Process	Cytoplasmic translation	IC	23636399
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	8479925
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	8479925
GO:0005515	Function	Protein binding	IPI	16213212, 24965446, 26100019
GO:0005654	Component	Nucleoplasm	IDA	16213212
GO:0005730	Component	Nucleolus	IDA	16213212
GO:0005737	Component	Cytoplasm	IDA	16213212
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IEA
GO:0006364	Process	RRNA processing	IMP	18697920
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	12962325
GO:0006412	Process	Translation	TAS	8479925
GO:0015934	Component	Large ribosomal subunit	IEA
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	TAS	8479925
GO:0022626	Component	Cytosolic ribosome	IDA	16213212, 23636399
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IMP	16213212
GO:0034644	Process	Cellular response to UV	IMP	16213212
GO:0042273	Process	Ribosomal large subunit biogenesis	IBA
GO:0042273	Process	Ribosomal large subunit biogenesis	IMP	18697920
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP	16213212
GO:0045727	Process	Positive regulation of translation	IMP	16213212
GO:0048027	Function	MRNA 5'-UTR binding	IMP	16213212
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071480	Process	Cellular response to gamma radiation	IDA	16213212
GO:1902167	Process	Positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP	16213212
GO:1904803	Process	Regulation of translation involved in cellular response to UV	IMP	16213212
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:1990904	Component	Ribonucleoprotein complex	IMP	16213212

MIM	HGNC	e!Ensembl
603704	10327	ENSG00000161970

P61254

Protein name

Large ribosomal subunit protein uL24 (60S ribosomal protein L26)

Protein function

Component of the large ribosomal subunit (PubMed:23636399, PubMed:26100019, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:26100019, PubMed:32669

PDB

4UG0 , 4V6X , 5AJ0 , 5LKS , 5T2C , 6IP5 , 6IP6 , 6IP8 , 6LQM , 6LSR , 6LSS , 6LU8 , 6OLE , 6OLF , 6OLG , 6OLI , 6OLZ , 6OM0 , 6OM7 , 6QZP , 6SXO , 6W6L , 6XA1 , 6Y0G , 6Y2L , 6Y57 , 6Y6X , 6Z6L , 6Z6M , 6Z6N , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 7BHP , 7F5S , 7OW7 , 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
PF16906	Ribosomal_L26	8 → 122	Ribosomal proteins L26 eukaryotic, L24P archaeal	Family
PF00467	KOW	51 → 97	KOW motif	Family

Sequence

MKFNPFVTSDRSKNRKRHFNAPSHIRRKIMSSPLSKELRQKYNVRSMPIRKDDEVQVVRG
HYKGQQIGKVVQVYRKKYVIYIERVQREKANGTTVHVGIHPSKVVITRLKLDKDRKKILE
RKAKSRQVGKEKGKYKEETIEKMQE

Sequence length

145

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diamond-Blackfan anemia 11	Likely pathogenic; Pathogenic	rs2544010895, rs2544009466, rs2544009221, rs397518451	RCV004527282 RCV004527283 RCV004527284 RCV000032955

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Diamond-Blackfan anemia	Uncertain significance; Likely benign; Benign	rs1907207139, rs746381469, rs750540417, rs201307266, rs149055327, rs755255765, rs763691423, rs2151675473, rs1193599772, rs747386536, rs2151675468, rs368557278, rs573206384, rs769458257, rs747836389 View all (45 more)	RCV001324526 RCV001340451 RCV001400125 RCV001436665 RCV001444757 RCV001510863 RCV001872142 RCV001995046 RCV001981890 RCV002041547 RCV001877614 RCV002130782 RCV002076044 RCV002382760 RCV003052756 RCV003068925 RCV003078188 RCV003091259 RCV002614902 RCV002606906 RCV002640311 RCV002625096 RCV002637352 RCV002624387 RCV002629452 RCV003115827 RCV002593399 RCV002635714 RCV002680741 RCV002696279 RCV002754937 RCV002785808 RCV002937278 RCV002932700 RCV002979539 RCV002962963 RCV003005897 RCV003018062 RCV003042843 RCV000230178 RCV003508401 RCV003508205 RCV003508724 RCV003508550 RCV003508588 RCV003506896 RCV003507828 RCV003616047 RCV003616375 RCV003616642 RCV003617091 RCV003617213 RCV003615669 RCV003823598 RCV003838510 RCV003848952 RCV003872182 RCV000535338 RCV000809374 RCV000870327 RCV003103882 RCV001215912
Lung cancer	Benign	rs365897	RCV005918747
Malignant tumor of esophagus	Benign	rs365897	RCV005918745
RPL26-related disorder	Likely benign; Uncertain significance	rs149055327, rs2151675473, rs1907452738	RCV003946161 RCV004731217 RCV003898602
Sarcoma	Benign	rs365897	RCV005918746
Uterine corpus endometrial carcinoma	Benign	rs365897	RCV005918748

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	19117641, 34225819, 37545529
Alzheimer Disease	Stimulate	9394977
Anemia	Associate	31595041
Anemia Diamond Blackfan	Associate	22431104, 23482395
Anhedonia	Associate	22431104
Glaucoma	Associate	36450729
Hodgkin Disease	Associate	2297052, 8966716
Huntington Disease	Associate	1987769
Lymphoma	Associate	8013619
Lymphoma Follicular	Associate	1987769
Lymphoma Large Cell Immunoblastic	Associate	6332692
Norrie disease	Associate	19117641
Scabies	Stimulate	9394977
Vitiligo	Associate	33463119

RPL26 (ribosomal protein L26)