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	122704
Gene name	Mitochondrial ribosomal protein L52
Gene symbol	MRPL52
Synonyms (NCBI Gene)	mL52
Chromosome	14
Chromosome location	14q11.2
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
MIRT515364	hsa-miR-4438	PAR-CLIP	23446348
MIRT515363	hsa-miR-4695-5p	PAR-CLIP	23446348
MIRT515362	hsa-miR-4779	PAR-CLIP	23446348
MIRT515361	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT515360	hsa-miR-500b-3p	PAR-CLIP	23446348
MIRT515359	hsa-miR-5095	PAR-CLIP	23446348
MIRT515358	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515357	hsa-miR-4266	PAR-CLIP	23446348
MIRT515356	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT454124	hsa-miR-6813-3p	PAR-CLIP	23592263
MIRT454123	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT454122	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT454121	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT454120	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT454119	hsa-miR-3666	PAR-CLIP	23592263
MIRT454118	hsa-miR-4295	PAR-CLIP	23592263
MIRT454117	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT454116	hsa-miR-4726-3p	PAR-CLIP	23592263
MIRT454115	hsa-miR-6759-3p	PAR-CLIP	23592263
MIRT454114	hsa-miR-504-3p	PAR-CLIP	23592263
MIRT454113	hsa-miR-122-5p	PAR-CLIP	23592263
MIRT454112	hsa-miR-3650	PAR-CLIP	23592263
MIRT454111	hsa-miR-7973	PAR-CLIP	23592263
MIRT454110	hsa-miR-106a-3p	PAR-CLIP	23592263
MIRT454109	hsa-miR-3198	PAR-CLIP	23592263
MIRT454108	hsa-miR-4309	PAR-CLIP	23592263
MIRT454107	hsa-miR-6808-3p	PAR-CLIP	23592263
MIRT515364	hsa-miR-4438	PAR-CLIP	23446348
MIRT515363	hsa-miR-4695-5p	PAR-CLIP	23446348
MIRT515362	hsa-miR-4779	PAR-CLIP	23446348
MIRT515361	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT515360	hsa-miR-500b-3p	PAR-CLIP	23446348
MIRT515359	hsa-miR-5095	PAR-CLIP	23446348
MIRT515358	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515357	hsa-miR-4266	PAR-CLIP	23446348
MIRT515356	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT454124	hsa-miR-6813-3p	PAR-CLIP	23592263
MIRT454123	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT454122	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT454121	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT454120	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT454119	hsa-miR-3666	PAR-CLIP	23592263
MIRT454118	hsa-miR-4295	PAR-CLIP	23592263
MIRT454117	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT454116	hsa-miR-4726-3p	PAR-CLIP	23592263
MIRT454115	hsa-miR-6759-3p	PAR-CLIP	23592263
MIRT454114	hsa-miR-504-3p	PAR-CLIP	23592263
MIRT454113	hsa-miR-122-5p	PAR-CLIP	23592263
MIRT454112	hsa-miR-3650	PAR-CLIP	23592263
MIRT454111	hsa-miR-7973	PAR-CLIP	23592263
MIRT454110	hsa-miR-106a-3p	PAR-CLIP	23592263
MIRT454109	hsa-miR-3198	PAR-CLIP	23592263
MIRT454108	hsa-miR-4309	PAR-CLIP	23592263
MIRT454107	hsa-miR-6808-3p	PAR-CLIP	23592263
MIRT1159559	hsa-miR-1292	CLIP-seq
MIRT1159560	hsa-miR-1913	CLIP-seq
MIRT1159561	hsa-miR-2110	CLIP-seq
MIRT1159562	hsa-miR-324-3p	CLIP-seq
MIRT1159563	hsa-miR-4271	CLIP-seq
MIRT1159564	hsa-miR-4493	CLIP-seq
MIRT1159565	hsa-miR-4707-3p	CLIP-seq
MIRT1159566	hsa-miR-4725-3p	CLIP-seq
MIRT1159567	hsa-miR-581	CLIP-seq
MIRT1159568	hsa-miR-122	CLIP-seq
MIRT1159569	hsa-miR-1249	CLIP-seq
MIRT1159570	hsa-miR-130a	CLIP-seq
MIRT1159571	hsa-miR-130b	CLIP-seq
MIRT1159572	hsa-miR-139-3p	CLIP-seq
MIRT1159573	hsa-miR-146b-3p	CLIP-seq
MIRT1159574	hsa-miR-301a	CLIP-seq
MIRT1159575	hsa-miR-301b	CLIP-seq
MIRT1159576	hsa-miR-339-5p	CLIP-seq
MIRT1159577	hsa-miR-3672	CLIP-seq
MIRT1159578	hsa-miR-4294	CLIP-seq
MIRT1159579	hsa-miR-454	CLIP-seq
MIRT2045817	hsa-miR-548a-3p	CLIP-seq
MIRT2045818	hsa-miR-548e	CLIP-seq
MIRT2045819	hsa-miR-548f	CLIP-seq
MIRT2573764	hsa-miR-1200	CLIP-seq
MIRT2573765	hsa-miR-1976	CLIP-seq
MIRT2573766	hsa-miR-4279	CLIP-seq
MIRT2573767	hsa-miR-4324	CLIP-seq
MIRT2573768	hsa-miR-4503	CLIP-seq
MIRT2573769	hsa-miR-4722-3p	CLIP-seq
MIRT2573770	hsa-miR-4740-3p	CLIP-seq
MIRT2573771	hsa-miR-544b	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003735	Function	Structural constituent of ribosome	IEA
GO:0003735	Function	Structural constituent of ribosome	ISS
GO:0005515	Function	Protein binding	IPI	30021884, 33961781
GO:0005654	Component	Nucleoplasm	IDA
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	IEA
GO:0005762	Component	Mitochondrial large ribosomal subunit	ISS
GO:0005762	Component	Mitochondrial large ribosomal subunit	NAS	25278503
GO:0005840	Component	Ribosome	IEA
GO:0006412	Process	Translation	IBA
GO:0006412	Process	Translation	ISS
GO:0032543	Process	Mitochondrial translation	IEA
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
611856	16655	ENSG00000172590

Q86TS9

Protein name

Large ribosomal subunit protein mL52 (39S ribosomal protein L52, mitochondrial) (L52mt) (MRP-L52)

PDB

3J7Y , 5OOL , 5OOM , 6NU2 , 6NU3 , 6ZM5 , 6ZM6 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5J , 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 , 7QH7 , 7QI4 , 7QI5 , 7QI6 , 8ANY , 8OIR , 8OIT , 8PK0 , 8QSJ , 8QU5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18699	MRPL52	24 → 114	Mitoribosomal protein mL52	Family

Sequence

MAALGTVLFTGVRRLHCSVAAWAGGQWRLQQGLAANPSGYGPLTELPDWSYADGRPAPPM
KGQLRRKAERETFARRVVLLSQEMDAGLQAWQLRQQKLQEEQRKQENALKPKGASLKSPL
PSQ

Sequence length

123

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 (2)

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.
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Stimulate	34158854	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis Cutis	Stimulate	34158854	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	27609023	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Associate	34158854	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia Brain	Stimulate	34158854	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Inhibit	34158854	★★★★★ ★☆☆☆☆ Found in Text Mining only

MRPL52 (mitochondrial ribosomal protein L52)