Gene Gene information from NCBI Gene database.
Entrez ID 79590
Gene name Mitochondrial ribosomal protein L24
Gene symbol MRPL24
Synonyms (NCBI Gene)
L24mtMRP-L18MRP-L24uL24m
Chromosome 1
Chromosome location 1q23.1
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
miRNA miRNA information provided by mirtarbase database.
7
miRTarBase ID miRNA Experiments Reference
MIRT040830 hsa-miR-18a-3p CLASH 23622248
MIRT052705 hsa-miR-1260b CLASH 23622248
MIRT1158925 hsa-miR-1302 CLIP-seq
MIRT1158926 hsa-miR-3614-3p CLIP-seq
MIRT1158927 hsa-miR-3922-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IEA
GO:0003735 Function Structural constituent of ribosome IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 28892042
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611836 14037 ENSG00000143314
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96A35
Protein name Large ribosomal subunit protein uL24m (39S ribosomal protein L24, mitochondrial) (L24mt) (MRP-L24)
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
PF00467 KOW 58 88 KOW motif Family
PF17136 ribosomal_L24 91 154 Ribosomal proteins 50S L24/mitochondrial 39S L24 Family
Sequence
MRLSALLALASKVTLPPHYRYGMSPPGSVADKRKNPPWIRRRPVVVEPISDEDWYLFCGD
TVEILEGKDAGKQGKVVQVIRQRNWVVV
GGLNTHYRYIGKTMDYRGTMIPSEAPLLHRQV
KLVDPMDRKPTEIEWRFTEAGERVRVSTRSGRII
PKPEFPRADGIVPETWIDGPKDTSVE
DALERTYVPCLKTLQEEVMEAMGIKETRKYKKVYWY
Sequence length 216
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ribosome   Mitochondrial translation elongation
Mitochondrial translation termination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations