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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11222
Gene name	Mitochondrial ribosomal protein L3
Gene symbol	MRPL3
Synonyms (NCBI Gene)	COXPD9MRL3RPML3uL3m
Chromosome	3
Chromosome location	3q22.1
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

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs148679749	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs387906962	G>C	Pathogenic	Missense variant, coding sequence variant
rs780595770	C>G,T	Pathogenic	Splice donor variant

Show/Hide all (95)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031613	hsa-miR-16-5p	Proteomics	18668040
MIRT049158	hsa-miR-92a-3p	CLASH	23622248
MIRT041694	hsa-miR-484	CLASH	23622248
MIRT484451	hsa-miR-4252	PAR-CLIP	23592263
MIRT447606	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447605	hsa-miR-548ag	PAR-CLIP	22100165
MIRT447604	hsa-miR-548ai	PAR-CLIP	22100165
MIRT447603	hsa-miR-548ba	PAR-CLIP	22100165
MIRT447602	hsa-miR-570-5p	PAR-CLIP	22100165
MIRT447600	hsa-miR-4680-5p	PAR-CLIP	22100165
MIRT447601	hsa-miR-4533	PAR-CLIP	22100165
MIRT447599	hsa-miR-3202	PAR-CLIP	22100165
MIRT447598	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT447597	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT484451	hsa-miR-4252	PAR-CLIP	23592263
MIRT447606	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT447605	hsa-miR-548ag	PAR-CLIP	22100165
MIRT447604	hsa-miR-548ai	PAR-CLIP	22100165
MIRT447603	hsa-miR-548ba	PAR-CLIP	22100165
MIRT447602	hsa-miR-570-5p	PAR-CLIP	22100165
MIRT447600	hsa-miR-4680-5p	PAR-CLIP	22100165
MIRT447601	hsa-miR-4533	PAR-CLIP	22100165
MIRT447599	hsa-miR-3202	PAR-CLIP	22100165
MIRT447598	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT447597	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT1159137	hsa-miR-149	CLIP-seq
MIRT1159138	hsa-miR-2355-3p	CLIP-seq
MIRT1159139	hsa-miR-24	CLIP-seq
MIRT1159140	hsa-miR-3064-5p	CLIP-seq
MIRT1159141	hsa-miR-3121-5p	CLIP-seq
MIRT1159142	hsa-miR-3124-3p	CLIP-seq
MIRT1159143	hsa-miR-323-5p	CLIP-seq
MIRT1159144	hsa-miR-34c-3p	CLIP-seq
MIRT1159145	hsa-miR-380	CLIP-seq
MIRT1159146	hsa-miR-4263	CLIP-seq
MIRT1159147	hsa-miR-4282	CLIP-seq
MIRT1159148	hsa-miR-4284	CLIP-seq
MIRT1159149	hsa-miR-4299	CLIP-seq
MIRT1159150	hsa-miR-4428	CLIP-seq
MIRT1159151	hsa-miR-4456	CLIP-seq
MIRT1159152	hsa-miR-4495	CLIP-seq
MIRT1159153	hsa-miR-4506	CLIP-seq
MIRT1159154	hsa-miR-4536	CLIP-seq
MIRT1159155	hsa-miR-4639-3p	CLIP-seq
MIRT1159156	hsa-miR-4646-3p	CLIP-seq
MIRT1159157	hsa-miR-4727-5p	CLIP-seq
MIRT1159158	hsa-miR-4764-3p	CLIP-seq
MIRT1159159	hsa-miR-4769-3p	CLIP-seq
MIRT1159160	hsa-miR-4775	CLIP-seq
MIRT1159161	hsa-miR-4794	CLIP-seq
MIRT1159162	hsa-miR-495	CLIP-seq
MIRT1159163	hsa-miR-511	CLIP-seq
MIRT1159164	hsa-miR-548q	CLIP-seq
MIRT1159165	hsa-miR-576-5p	CLIP-seq
MIRT1159166	hsa-miR-590-3p	CLIP-seq
MIRT1159167	hsa-miR-876-3p	CLIP-seq
MIRT1159137	hsa-miR-149	CLIP-seq
MIRT1159139	hsa-miR-24	CLIP-seq
MIRT1159140	hsa-miR-3064-5p	CLIP-seq
MIRT1159143	hsa-miR-323-5p	CLIP-seq
MIRT1159144	hsa-miR-34c-3p	CLIP-seq
MIRT2045631	hsa-miR-3692	CLIP-seq
MIRT1159145	hsa-miR-380	CLIP-seq
MIRT1159148	hsa-miR-4284	CLIP-seq
MIRT1159149	hsa-miR-4299	CLIP-seq
MIRT1159151	hsa-miR-4456	CLIP-seq
MIRT1159152	hsa-miR-4495	CLIP-seq
MIRT2045632	hsa-miR-452	CLIP-seq
MIRT1159155	hsa-miR-4639-3p	CLIP-seq
MIRT2045633	hsa-miR-4676-3p	CLIP-seq
MIRT1159161	hsa-miR-4794	CLIP-seq
MIRT2045634	hsa-miR-513b	CLIP-seq
MIRT1159164	hsa-miR-548q	CLIP-seq
MIRT1159167	hsa-miR-876-3p	CLIP-seq
MIRT1159137	hsa-miR-149	CLIP-seq
MIRT1159138	hsa-miR-2355-3p	CLIP-seq
MIRT1159139	hsa-miR-24	CLIP-seq
MIRT1159140	hsa-miR-3064-5p	CLIP-seq
MIRT1159141	hsa-miR-3121-5p	CLIP-seq
MIRT1159142	hsa-miR-3124-3p	CLIP-seq
MIRT2274607	hsa-miR-3143	CLIP-seq
MIRT2274608	hsa-miR-3153	CLIP-seq
MIRT1159144	hsa-miR-34c-3p	CLIP-seq
MIRT2274609	hsa-miR-3668	CLIP-seq
MIRT2274610	hsa-miR-3686	CLIP-seq
MIRT1159145	hsa-miR-380	CLIP-seq
MIRT1159148	hsa-miR-4284	CLIP-seq
MIRT1159152	hsa-miR-4495	CLIP-seq
MIRT1159155	hsa-miR-4639-3p	CLIP-seq
MIRT1159156	hsa-miR-4646-3p	CLIP-seq
MIRT2274611	hsa-miR-4652-3p	CLIP-seq
MIRT2274612	hsa-miR-4662a-3p	CLIP-seq
MIRT2274613	hsa-miR-4668-5p	CLIP-seq
MIRT1159161	hsa-miR-4794	CLIP-seq
MIRT1159163	hsa-miR-511	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	TAS	2891103
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	IEA
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	20186120, 25278503, 28892042
GO:0005762	Component	Mitochondrial large ribosomal subunit	NAS	25278503
GO:0005840	Component	Ribosome	IEA
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	TAS	2891103
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
607118	10379	ENSG00000114686

P09001

Protein name

Large ribosomal subunit protein uL3m (39S ribosomal protein L3, mitochondrial) (L3mt) (MRP-L3)

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
PF00297	Ribosomal_L3	1 → 118	Ribosomal protein L3	Family
PF00297	Ribosomal_L3	113 → 340	Ribosomal protein L3	Family

Sequence

MPGWRLLTQVGAQVLGRLGDGLGAALGPGNRTHIWLFVRGLHGKSGTWWDEHLSEENVPF
IKQLVSDEDKAQLASKLCPLKDEPWPIHPWEPGSFRVGLIALKLGMMPLWTKDGQKHVVT
LLQVQDCHVLKYTSKENCNGKMATLSVGGKTVSRFRKATSILEFYRELGLPPKQTVKIFN
ITDNAAIKPGTPLYAAHFRPGQYVDVTAKTIGKGFQGVMKRWGFKGQPATHGQTKTHRRP
GAVATGDIGRVWPGTKMPGKMGNIYRTEYGLKVWRINTKHNIIYVNGSVPGHKNCLVKVK
DSKLPAYKDLGKNLPFPTYFPDGDEEELPEDLYDENVCQPGAPSITFA

Sequence length

348

Interactions

View interactions

	KEGG		Reactome
	Ribosome		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 Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation defect type 9	Likely pathogenic; Pathogenic	rs749424539, rs387906962, rs1582724664	RCV003993621 RCV000023618 RCV000850125	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal encephalopathy	Likely pathogenic	rs1256488073	RCV003154306	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MRPL3-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	39252332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34341433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	2891103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24146633	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined oxidative phosphorylation defect type 9	Combined Oxidative Phosphorylation Deficiency	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	21786366, 27815843		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	21786366		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	21786366		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21786366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21786366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial cardiomyopathy	Mitochondrial Cardiomyopathy	BEFREE	21786366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	21786366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31102348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MRPL3 (mitochondrial ribosomal protein L3)