Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
65993
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrial ribosomal protein S34
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MRPS34
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD32, MRP-S12, MRP-S34, MRPS12, mS34
Disease Acronyms (UniProt) Disease acronyms from UniProt database
COXPD32
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003735 Function Structural constituent of ribosome IBA 21873635
GO:0003735 Function Structural constituent of ribosome IMP 28777931
GO:0005739 Component Mitochondrion IDA
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0005763 Component Mitochondrial small ribosomal subunit IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611994 16618 ENSG00000074071
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Combined oxidative phosphorylation deficiency COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517
View all (155 more)
28777931
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Leigh syndrome Leigh Disease rs267606829, rs137852863, rs121908577, rs1445075330, rs121908985, rs104893898, rs28939679, rs104894705, rs1568985256, rs199476144, rs199474672, rs118192098, rs118192100, rs199476133, rs199476135
View all (107 more)
2877793
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Leigh Syndrome Leigh syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Cholangiocarcinoma Associate 35841118
Leigh Disease Associate 28777931
Mitochondrial Diseases Associate 28777931