MRPL3 (mitochondrial ribosomal protein L3)

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
SNPs SNP information provided by dbSNP.
3
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.
95
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607118 10379 ENSG00000114686
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined oxidative phosphorylation defect type 9 Likely pathogenic; Pathogenic rs749424539, rs387906962, rs1582724664 RCV003993621
RCV000023618
RCV000850125
Neonatal encephalopathy Likely pathogenic rs1256488073 RCV003154306
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs764942168 RCV005927279
Cervical cancer Benign rs77947063 RCV005896591
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs77947063 RCV005896597
Familial prostate cancer Likely benign rs764942168 RCV005927280
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease 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