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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6123
Gene name	Ribosomal protein L3 like
Gene symbol	RPL3L
Synonyms (NCBI Gene)	CMD2D
Chromosome	16
Chromosome location	16p13.3
Summary	This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of exp

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miRTarBase ID	miRNA	Experiments	Reference
MIRT621012	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT611851	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT611850	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT611849	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT611856	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611855	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611854	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611853	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611852	hsa-miR-548z	HITS-CLIP	23824327
MIRT621012	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT621011	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT621010	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT621009	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT621008	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT621007	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT611851	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT611850	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT611849	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT611856	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611855	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611854	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611853	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611852	hsa-miR-548z	HITS-CLIP	23824327
MIRT611851	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT611850	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT611849	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT621012	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT611851	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT611850	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT611849	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT611856	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611855	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611854	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611853	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611852	hsa-miR-548z	HITS-CLIP	23824327
MIRT621012	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT621011	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT621010	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT621009	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT621008	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT621007	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT611851	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT611850	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT611849	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT611856	hsa-miR-548ac	HITS-CLIP	23824327
MIRT611855	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT611854	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT611853	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT611852	hsa-miR-548z	HITS-CLIP	23824327
MIRT611851	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT611850	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT611849	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT2094119	hsa-miR-1324	CLIP-seq
MIRT2094120	hsa-miR-3166	CLIP-seq
MIRT2094121	hsa-miR-4260	CLIP-seq
MIRT2094122	hsa-miR-4267	CLIP-seq
MIRT2094123	hsa-miR-486-3p	CLIP-seq
MIRT2094119	hsa-miR-1324	CLIP-seq
MIRT2318722	hsa-miR-25	CLIP-seq
MIRT2094120	hsa-miR-3166	CLIP-seq
MIRT2318723	hsa-miR-32	CLIP-seq
MIRT2318724	hsa-miR-363	CLIP-seq
MIRT2318725	hsa-miR-367	CLIP-seq
MIRT2094121	hsa-miR-4260	CLIP-seq
MIRT2318726	hsa-miR-4684-5p	CLIP-seq
MIRT2318727	hsa-miR-4768-5p	CLIP-seq
MIRT2094123	hsa-miR-486-3p	CLIP-seq
MIRT2318728	hsa-miR-92a	CLIP-seq
MIRT2318729	hsa-miR-92b	CLIP-seq
MIRT2094119	hsa-miR-1324	CLIP-seq
MIRT2094120	hsa-miR-3166	CLIP-seq
MIRT2094121	hsa-miR-4260	CLIP-seq
MIRT2094123	hsa-miR-486-3p	CLIP-seq
MIRT2094119	hsa-miR-1324	CLIP-seq
MIRT2094120	hsa-miR-3166	CLIP-seq
MIRT2094121	hsa-miR-4260	CLIP-seq
MIRT2094123	hsa-miR-486-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	TAS	8921388
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	IEA
GO:0003735	Function	Structural constituent of ribosome	NAS	12962325
GO:0003735	Function	Structural constituent of ribosome	TAS	8921388
GO:0005840	Component	Ribosome	IEA
GO:0005840	Component	Ribosome	TAS	8921388
GO:0006412	Process	Translation	IBA
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	12962325
GO:0006412	Process	Translation	TAS	8921388
GO:0010832	Process	Negative regulation of myotube differentiation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016202	Process	Regulation of striated muscle tissue development	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	IEA
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
617416	10351	ENSG00000140986

Q92901

Protein name

Ribosomal protein uL3-like (60S ribosomal protein L3-like) (Large ribosomal subunit protein uL3-like)

Protein function

Heart- and skeletal muscle-specific component of the ribosome, which regulates muscle function. Component of the large ribosomal subunit in striated muscle cells: replaces the RPL3 paralog in the ribosome in these cells. The ribosome is a large

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00297	Ribosomal_L3	1 → 375	Ribosomal protein L3	Family

Sequence

MSHRKFSAPRHGHLGFLPHKRSHRHRGKVKTWPRDDPSQPVHLTAFLGYKAGMTHTLREV
HRPGLKISKREEVEAVTIVETPPLVVVGVVGYVATPRGLRSFKTIFAEHLSDECRRRFYK
DWHKSKKKAFTKACKRWRDTDGKKQLQKDFAAMKKYCKVIRVIVHTQMKLLPFRQKKAHI
MEIQLNGGTVAEKVAWAQARLEKQVPVHSVFSQSEVIDVIAVTKGRGVKGVTSRWHTKKL
PRKTHKGLRKVACIGAWHPARVGCSIARAGQKGYHHRTELNKKIFRIGRGPHMEDGKLVK
NNASTSYDVTAKSITPLGGFPHYGEVNNDFVMLKGCIAGTKKRVITLRKSLLVHHSRQAV
ENIELKFIDTTSKFGHGRFQTAQEKRAFMGPQKKHLEKETPETSGDL

Sequence length

407

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy, dilated, 2D	Pathogenic	rs2150861462, rs1465045317, rs924125081, rs143544112, rs376654625	RCV001507077 RCV001507078 RCV001507079 RCV001507082 RCV001507083	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

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.
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	Pubtator	36589848	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	32514796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35712285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33078831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	8921388		★★★★★ ★☆☆☆☆ Found in Text Mining only

RPL3L (ribosomal protein L3 like)