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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11222
Gene name Gene Name - the full gene name approved by the HGNC.	Mitochondrial ribosomal protein L3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MRPL3
Synonyms (NCBI Gene) Gene synonyms aliases	COXPD9, MRL3, RPML3, uL3m
Disease Acronyms (UniProt) Disease acronyms from UniProt database	COXPD9
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	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(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003735	Function	Structural constituent of ribosome	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	28892042
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005762	Component	Mitochondrial large ribosomal subunit	IBA	21873635
GO:0005762	Component	Mitochondrial large ribosomal subunit	IDA	20186120, 25278503, 28892042
GO:0006412	Process	Translation	TAS	2891103
GO:0070125	Process	Mitochondrial translational elongation	TAS
GO:0070126	Process	Mitochondrial translational termination	TAS

MIM	HGNC	e!Ensembl
607118	10379	ENSG00000114686

Protein

UniProt ID

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

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, Combined oxidative phosphorylation defect type 9	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517 View all (155 more)	21786366, 27815843
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377 View all (752 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Mitochondrial Diseases	mitochondrial disease			GenCC

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
Altitude Sickness	Associate	32299499
Amyotrophic Lateral Sclerosis	Associate	39252332
Breast Neoplasms	Associate	34341433
Colorectal Neoplasms	Associate	24146633
Multiple Organ Failure	Associate	37533854
Neoplasms	Associate	34341433
Pancreatic Neoplasms	Associate	31102348

MRPL3 (mitochondrial ribosomal protein L3)