MRPL3 (mitochondrial ribosomal protein L3)

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
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607118 10379 ENSG00000114686
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Ribosome   Mitochondrial translation elongation
Mitochondrial translation termination
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation defect type 9 rs387906962, rs1582724664 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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