Gene Gene information from NCBI Gene database.
Entrez ID 65993
Gene name Mitochondrial ribosomal protein S34
Gene symbol MRPS34
Synonyms (NCBI Gene)
COXPD32MRP-S12MRP-S34MRPS12mS34
Chromosome 16
Chromosome location 16p13.3
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.
60
miRTarBase ID miRNA Experiments Reference
MIRT020816 hsa-miR-155-5p Proteomics 18668040
MIRT029599 hsa-miR-26b-5p Microarray 19088304
MIRT050407 hsa-miR-23a-3p CLASH 23622248
MIRT1160391 hsa-miR-1275 CLIP-seq
MIRT1160392 hsa-miR-2355-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0003735 Function Structural constituent of ribosome IBA
GO:0003735 Function Structural constituent of ribosome IEA
GO:0003735 Function Structural constituent of ribosome IMP 28777931
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611994 16618 ENSG00000074071
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P82930
Protein name Small ribosomal subunit protein mS34 (28S ribosomal protein S34, mitochondrial) (MRP-S34) (S34mt)
Protein function Required for mitochondrial translation, plays a role in maintaining the stability of the small ribosomal subunit and the 12S rRNA that are required for mitoribosome formation.
PDB 3J9M , 6NU2 , 6RW4 , 6RW5 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5I , 7A5K , 7L08 , 7OG4 , 7P2E , 7PNX , 7PNY , 7PNZ , 7PO0 , 7PO1 , 7PO2 , 7PO3 , 7QI4 , 7QI5 , 7QI6 , 8ANY , 8CSP , 8CSQ , 8CSR , 8CSS , 8CST , 8CSU , 8K2A , 8OIR , 8OIS , 8QRK , 8QRL , 8QRM , 8QRN , 8RRI , 8XT0 , 8XT2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16053 MRP-S34 61 187 Mitochondrial 28S ribosomal protein S34 Family
Sequence
MARKKVRPRLIAELARRVRALREQLNRPRDSQLYAVDYETLTRPFSGRRLPVRAWADVRR
ESRLLQLLGRLPLFGLGRLVTRKSWLWQHDEPCYWRLTRVRPDYTAQNLDHGKAWGILTF
KGKTESEAREIEHVMYHDWRLVPKHEEEAFTAFTPAPEDSLASVPYPPLLRAMIIAERQK
NGDTSTE
EPMLNVQRIRMEPWDYPAKQEDKGRAKGTPV
Sequence length 218
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Mitochondrial translation elongation
Mitochondrial translation termination
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
30
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined oxidative phosphorylation deficiency 32 Likely pathogenic; Pathogenic rs1313473522, rs750773640, rs1131692037, rs1161932777, rs563189672, rs763672163 RCV002077366
RCV003144025
RCV000505523
RCV000505529
RCV000505515
RCV000505531
Leigh syndrome Likely pathogenic; Pathogenic rs1131692037, rs1161932777 RCV000494696
RCV000585740
MRPS34-related disorder Likely pathogenic; Pathogenic rs1212793496 RCV003412215
Ovarian serous cystadenocarcinoma Pathogenic rs563189672 RCV005900927
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Sarcoma Uncertain significance rs200767849 RCV005930624
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cholangiocarcinoma Associate 35841118
Leigh Disease Associate 28777931
Mitochondrial Diseases Associate 28777931