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	54534
Gene name	Mitochondrial ribosomal protein L50
Gene symbol	MRPL50
Synonyms (NCBI Gene)	MRP-L50mL50
Chromosome	9
Chromosome location	9q31.1
Summary	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% prot

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024492	hsa-miR-215-5p	Microarray	19074876
MIRT026300	hsa-miR-192-5p	Microarray	19074876
MIRT045737	hsa-miR-125a-5p	CLASH	23622248
MIRT1159516	hsa-miR-223	CLIP-seq
MIRT1159517	hsa-miR-23a	CLIP-seq
MIRT1159518	hsa-miR-23b	CLIP-seq
MIRT1159519	hsa-miR-23c	CLIP-seq
MIRT1159520	hsa-miR-3121-3p	CLIP-seq
MIRT1159521	hsa-miR-3156-5p	CLIP-seq
MIRT1159522	hsa-miR-3647-3p	CLIP-seq
MIRT1159523	hsa-miR-374c	CLIP-seq
MIRT1159524	hsa-miR-4291	CLIP-seq
MIRT1159525	hsa-miR-4307	CLIP-seq
MIRT1159526	hsa-miR-4468	CLIP-seq
MIRT1159527	hsa-miR-4517	CLIP-seq
MIRT1159528	hsa-miR-4697-3p	CLIP-seq
MIRT1159529	hsa-miR-4717-3p	CLIP-seq
MIRT1159530	hsa-miR-4731-3p	CLIP-seq
MIRT1159531	hsa-miR-4799-5p	CLIP-seq
MIRT1159532	hsa-miR-4801	CLIP-seq
MIRT1159533	hsa-miR-545	CLIP-seq
MIRT1159534	hsa-miR-548a-5p	CLIP-seq
MIRT1159535	hsa-miR-548ab	CLIP-seq
MIRT1159536	hsa-miR-548ak	CLIP-seq
MIRT1159537	hsa-miR-548b-5p	CLIP-seq
MIRT1159538	hsa-miR-548c-5p	CLIP-seq
MIRT1159539	hsa-miR-548d-5p	CLIP-seq
MIRT1159540	hsa-miR-548h	CLIP-seq
MIRT1159541	hsa-miR-548i	CLIP-seq
MIRT1159542	hsa-miR-548j	CLIP-seq
MIRT1159543	hsa-miR-548k	CLIP-seq
MIRT1159544	hsa-miR-548l	CLIP-seq
MIRT1159545	hsa-miR-548w	CLIP-seq
MIRT1159546	hsa-miR-548y	CLIP-seq
MIRT1159547	hsa-miR-559	CLIP-seq
MIRT1159548	hsa-miR-578	CLIP-seq
MIRT1159549	hsa-miR-606	CLIP-seq
MIRT1159550	hsa-miR-618	CLIP-seq
MIRT1159551	hsa-miR-655	CLIP-seq
MIRT1159552	hsa-miR-891b	CLIP-seq
MIRT1159527	hsa-miR-4517	CLIP-seq
MIRT2045793	hsa-miR-139-5p	CLIP-seq
MIRT2045794	hsa-miR-181a	CLIP-seq
MIRT2045795	hsa-miR-181b	CLIP-seq
MIRT2045796	hsa-miR-181c	CLIP-seq
MIRT2045797	hsa-miR-181d	CLIP-seq
MIRT1159516	hsa-miR-223	CLIP-seq
MIRT2045798	hsa-miR-331-5p	CLIP-seq
MIRT1159523	hsa-miR-374c	CLIP-seq
MIRT2045799	hsa-miR-4262	CLIP-seq
MIRT1159525	hsa-miR-4307	CLIP-seq
MIRT2045800	hsa-miR-4678	CLIP-seq
MIRT1159528	hsa-miR-4697-3p	CLIP-seq
MIRT1159530	hsa-miR-4731-3p	CLIP-seq
MIRT2045801	hsa-miR-4796-3p	CLIP-seq
MIRT1159532	hsa-miR-4801	CLIP-seq
MIRT2045802	hsa-miR-548t	CLIP-seq
MIRT2045803	hsa-miR-629	CLIP-seq
MIRT1159551	hsa-miR-655	CLIP-seq
MIRT2274859	hsa-miR-1178	CLIP-seq
MIRT2274860	hsa-miR-1266	CLIP-seq
MIRT1159516	hsa-miR-223	CLIP-seq
MIRT2274861	hsa-miR-3153	CLIP-seq
MIRT1159521	hsa-miR-3156-5p	CLIP-seq
MIRT1159523	hsa-miR-374c	CLIP-seq
MIRT2274862	hsa-miR-3943	CLIP-seq
MIRT2274863	hsa-miR-4270	CLIP-seq
MIRT2274864	hsa-miR-4313	CLIP-seq
MIRT2274865	hsa-miR-4441	CLIP-seq
MIRT1159526	hsa-miR-4468	CLIP-seq
MIRT2274866	hsa-miR-4518	CLIP-seq
MIRT1159528	hsa-miR-4697-3p	CLIP-seq
MIRT1159530	hsa-miR-4731-3p	CLIP-seq
MIRT1159532	hsa-miR-4801	CLIP-seq
MIRT1159551	hsa-miR-655	CLIP-seq
MIRT2573747	hsa-miR-1323	CLIP-seq
MIRT2573748	hsa-miR-192	CLIP-seq
MIRT2573749	hsa-miR-2054	CLIP-seq
MIRT2573750	hsa-miR-215	CLIP-seq
MIRT2573751	hsa-miR-2355-3p	CLIP-seq
MIRT1159520	hsa-miR-3121-3p	CLIP-seq
MIRT1159522	hsa-miR-3647-3p	CLIP-seq
MIRT2573752	hsa-miR-371-5p	CLIP-seq
MIRT2573753	hsa-miR-371b-3p	CLIP-seq
MIRT2573754	hsa-miR-371b-5p	CLIP-seq
MIRT2573755	hsa-miR-4290	CLIP-seq
MIRT1159524	hsa-miR-4291	CLIP-seq
MIRT1159527	hsa-miR-4517	CLIP-seq
MIRT2573756	hsa-miR-4645-3p	CLIP-seq
MIRT2573757	hsa-miR-4646-3p	CLIP-seq
MIRT2573758	hsa-miR-4729	CLIP-seq
MIRT2573759	hsa-miR-522	CLIP-seq
MIRT1159533	hsa-miR-545	CLIP-seq
MIRT2573760	hsa-miR-548o	CLIP-seq
MIRT2573761	hsa-miR-579	CLIP-seq
MIRT2573747	hsa-miR-1323	CLIP-seq
MIRT2573748	hsa-miR-192	CLIP-seq
MIRT2573750	hsa-miR-215	CLIP-seq
MIRT1159520	hsa-miR-3121-3p	CLIP-seq
MIRT1159522	hsa-miR-3647-3p	CLIP-seq
MIRT2573752	hsa-miR-371-5p	CLIP-seq
MIRT2573753	hsa-miR-371b-3p	CLIP-seq
MIRT2573754	hsa-miR-371b-5p	CLIP-seq
MIRT2573755	hsa-miR-4290	CLIP-seq
MIRT1159524	hsa-miR-4291	CLIP-seq
MIRT1159527	hsa-miR-4517	CLIP-seq
MIRT2573756	hsa-miR-4645-3p	CLIP-seq
MIRT2573758	hsa-miR-4729	CLIP-seq
MIRT2573759	hsa-miR-522	CLIP-seq
MIRT1159533	hsa-miR-545	CLIP-seq
MIRT2573760	hsa-miR-548o	CLIP-seq
MIRT2573761	hsa-miR-579	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	28892042
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	27023846
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005762	Component	Mitochondrial large ribosomal subunit	IBA
GO:0005762	Component	Mitochondrial large ribosomal subunit	IDA	25278503, 28892042
GO:0005762	Component	Mitochondrial large ribosomal subunit	NAS	25278503
GO:0005829	Component	Cytosol	IDA
GO:0005840	Component	Ribosome	IEA
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
611854	16654	ENSG00000136897

Q8N5N7

Protein name

Large ribosomal subunit protein mL50 (39S ribosomal protein L50, mitochondrial) (L50mt) (MRP-L50)

PDB

3J7Y , 3J9M , 5OOL , 5OOM , 6I9R , 6NU2 , 6NU3 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5H , 7A5I , 7A5J , 7A5K , 7L08 , 7L20 , 7O9K , 7O9M , 7ODR , 7ODS , 7ODT , 7OF0 , 7OF2 , 7OF3 , 7OF4 , 7OF5 , 7OF6 , 7OF7 , 7OG4 , 7OI6 , 7OI7 , 7OI8 , 7OI9 , 7OIA , 7OIB , 7OIC , 7OID , 7OIE , 7PD3 , 7PO4 , 7QH6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10501	Ribosomal_L50	60 → 155	Ribosomal subunit 39S	Domain

Sequence

MAARSVSGITRRVFMWTVSGTPCREFWSRFRKEKEPVVVETVEEKKEPILVCPPLRSRAY
TPPEDLQSRLESYVKEVFGSSLPSNWQDISLEDSRLKFNLLAHLADDLGHVVPNSRLHQM
CRVRDVLDFYNVPIQDRSKFDELSASNLPPNLKITWSY

Sequence length

158

Interactions

View interactions

	Reactome
			Mitochondrial translation elongation Mitochondrial translation termination

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 Unknown Diseases (3)

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.
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MRPL50 (mitochondrial ribosomal protein L50)