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	26589
Gene name	Mitochondrial ribosomal protein L46
Gene symbol	MRPL46
Synonyms (NCBI Gene)	C15orf4LIECG2P2ECSLmL46
Chromosome	15
Chromosome location	15q25.3
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
MIRT041746	hsa-miR-484	CLASH	23622248
MIRT039917	hsa-miR-615-3p	CLASH	23622248
MIRT039917	hsa-miR-615-3p	CLASH	23622248
MIRT037398	hsa-miR-744-5p	CLASH	23622248
MIRT1159460	hsa-miR-1273e	CLIP-seq
MIRT1159461	hsa-miR-1294	CLIP-seq
MIRT1159462	hsa-miR-1304	CLIP-seq
MIRT1159463	hsa-miR-1827	CLIP-seq
MIRT1159464	hsa-miR-2467-5p	CLIP-seq
MIRT1159465	hsa-miR-3145-3p	CLIP-seq
MIRT1159466	hsa-miR-3188	CLIP-seq
MIRT1159467	hsa-miR-377	CLIP-seq
MIRT1159468	hsa-miR-3975	CLIP-seq
MIRT1159469	hsa-miR-4316	CLIP-seq
MIRT1159470	hsa-miR-4514	CLIP-seq
MIRT1159471	hsa-miR-4660	CLIP-seq
MIRT1159472	hsa-miR-4692	CLIP-seq
MIRT1159473	hsa-miR-4705	CLIP-seq
MIRT1159474	hsa-miR-485-5p	CLIP-seq
MIRT1159475	hsa-miR-556-3p	CLIP-seq
MIRT1159461	hsa-miR-1294	CLIP-seq
MIRT1159463	hsa-miR-1827	CLIP-seq
MIRT1159465	hsa-miR-3145-3p	CLIP-seq
MIRT1159467	hsa-miR-377	CLIP-seq
MIRT1159469	hsa-miR-4316	CLIP-seq
MIRT1159470	hsa-miR-4514	CLIP-seq
MIRT1159471	hsa-miR-4660	CLIP-seq
MIRT1159472	hsa-miR-4692	CLIP-seq
MIRT1159473	hsa-miR-4705	CLIP-seq
MIRT1159475	hsa-miR-556-3p	CLIP-seq
MIRT1159462	hsa-miR-1304	CLIP-seq
MIRT1159464	hsa-miR-2467-5p	CLIP-seq
MIRT1159466	hsa-miR-3188	CLIP-seq
MIRT1159468	hsa-miR-3975	CLIP-seq
MIRT1159470	hsa-miR-4514	CLIP-seq
MIRT1159472	hsa-miR-4692	CLIP-seq
MIRT1159474	hsa-miR-485-5p	CLIP-seq
MIRT2274767	hsa-miR-499a-5p	CLIP-seq
MIRT1159470	hsa-miR-4514	CLIP-seq
MIRT1159471	hsa-miR-4660	CLIP-seq
MIRT1159472	hsa-miR-4692	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	IEA
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	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:0030054	Component	Cell junction	IDA
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
611851	1192	ENSG00000259494

Q9H2W6

Protein name

Large ribosomal subunit protein mL46 (39S ribosomal protein L46, mitochondrial) (L46mt) (MRP-L46) (P2ECSL)

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 , 7OI7 , 7OI8 , 7OI9 , 7OIA , 7OIB , 7OIC , 7OID , 7OIE , 7PD3 , 7PO4 , 7QI4 , 7QI5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11788	MRP-L46	45 → 153	39S mitochondrial ribosomal protein L46	Family

Sequence

MAAPVRRTLLGVAGGWRRFERLWAGSLSSRSLALAAAPSSNGSPWRLLGALCLQRPPVVS
KPLTPLQEEMASLLQQIEIERSLYSDHELRALDENQRLAKKKADLHDEEDEQDILLAQDL
EDMWEQKFLQFKLGARITEADEKNDRTSLNRKLDRNLVLLVREKFGDQDVWILPQAEWQP
GETLRGTAERTLATLSENNMEAKFLGNAPCGHYTFKFPQAMRTESNLGAKVFFFKALLLT
GDFSQAGNKGHHVWVTKDELGDYLKPKYLAQVRRFVSDL

Sequence length

279

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 (6)

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
INTERVERTEBRAL DISC DISPLACEMENT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MRPL46 (mitochondrial ribosomal protein L46)