MRPL12 (mitochondrial ribosomal protein L12)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6182
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrial ribosomal protein L12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MRPL12
Synonyms (NCBI Gene) Gene synonyms aliases
5c5-2, L12mt, MRP-L31/34, MRPL7, MRPL7/L12, RPML12, bL12m
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(351)
miRTarBase ID miRNA Experiments Reference
MIRT027400 hsa-miR-98-5p Microarray 19088304
MIRT031389 hsa-miR-16-5p Proteomics 18668040
MIRT048289 hsa-miR-107 CLASH 23622248
MIRT043855 hsa-miR-340-3p CLASH 23622248
MIRT042624 hsa-miR-423-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding TAS 8626705
GO:0003729 Function MRNA binding IBA
GO:0003735 Function Structural constituent of ribosome IBA
GO:0003735 Function Structural constituent of ribosome IEA
GO:0003735 Function Structural constituent of ribosome TAS 9169145
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602375 10378 ENSG00000262814
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P52815
Protein name Large ribosomal subunit protein bL12m (39S ribosomal protein L12, mitochondrial) (L12mt) (MRP-L12) (5c5-2) [Cleaved into: Large ribosomal subunit protein bL12m, long mature form; Large ribosomal subunit protein bL12m, short mature form]
Protein function As a component of the mitochondrial large ribosomal subunit, plays a role in mitochondrial translation (PubMed:23603806). When present in mitochondria as a free protein not associated with the ribosome, associates with mitochondrial RNA polymera
PDB 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7L08 , 7L20 , 7O9K , 7O9M , 7OG4 , 7PO2 , 7PO4 , 7QI4 , 7QI5 , 7QI6 , 8ANY , 8OIR , 8OIT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16320 Ribosomal_L12_N 63 → 116 Ribosomal protein L7/L12 dimerisation domain Domain
PF00542 Ribosomal_L12 130 → 198 Ribosomal protein L7/L12 C-terminal domain Domain
Sequence
Sequence length 198
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene 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 miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation deficiency 45 N/A N/A GenCC
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Stimulate 36769082
Adenocarcinoma of Lung Associate 38015097
Diabetic Nephropathies Associate 37526061
Growth Disorders Associate 23603806
Mitochondrial Diseases Associate 23603806, 37526061
Neoplasms Associate 36769082
Nervous System Diseases Associate 23603806
Primary Ovarian Insufficiency Associate 39379953