RPL26 (ribosomal protein L26)

Gene

• Entrez ID: 6154
• Gene name: Ribosomal protein L26
• Gene symbol: RPL26
• Synonyms (NCBI Gene): DBA11, L26, uL24
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 603704
• HGNC: 10327
• e!Ensembl: ENSG00000161970

Protein

• UniProt ID: 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

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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Diamond-Blackfan anemia 11	Likely pathogenic; Pathogenic	rs2544010895, rs2544009466, rs2544009221, rs397518451	RCV004527282 RCV004527283 RCV004527284 RCV000032955	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA, DIAMOND-BLACKFAN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diamond-Blackfan anemia	Uncertain significance; Likely benign; Benign	ClinVar GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RPL26-related disorder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aase Smith syndrome 2	Aase-Smith syndrome	ORPHANET_DG	22431104		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19117641, 34225819, 37545529	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	9394977	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	31595041	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia of inadequate production	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	22431104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	ORPHANET_DG	22431104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	28297620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Macrocytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	Pubtator	22431104	Associate	★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	30814317	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
DIAMOND-BLACKFAN ANEMIA 11	Diamond-Blackfan anemia	GENOMICS_ENGLAND_DG	22431104		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DIAMOND-BLACKFAN ANEMIA 11	Diamond-Blackfan anemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DIAMOND-BLACKFAN ANEMIA 11	Diamond-Blackfan anemia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	36450729	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	2297052, 8966716	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	1987769	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	8013619	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	1987769	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22868929		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22868929		★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	33463119	Associate	★☆☆☆☆ Found in Text Mining only