MRPS34
entrez
65993
canonical
uniprot
P82930
canonical
ensembl
ENSG00000074071
resolver
ensp
ENSP00000177742
resolver
ensp
ENSP00000380531
resolver
enst
ENST00000177742
resolver
enst
ENST00000397375
resolver
genesymbol
MRPS34
resolver
hgnc
HGNC:16618
resolver
uniprot
C9JJ19
resolver
uniprot
Q9BVI7
resolver
uniprot_entry
C9JJ19_HUMAN
resolver
uniprot_entry
RT34_HUMAN
resolver
uniprot_sec
Q9BVI7
resolver
amino_acid_sequence
MARKKVRPRLIAELARRVRALREQLNRPRDSQLYAVDYETLTRPFSGRRLPVRAWADVRRESRLLQLLGRLPLFGLGRLVTRKSWLWQHDEPCYWRLTRVRPDYTAQNLDHGKAWGILTFKGKTESEAREIEHVMYHDWRLVPKHEEEAFTAFTPAPEDSLASVPYPPLLRAMIIAERQKNGDTSTEEPMLNVQRIRMEPWDYPAKQEDKGRAKGTPV
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 32 (COXPD32) [MIM:617664]: An autosomal recessive disorder due to deficiency of mitochondrial respiratory chain complexes, I, III and IV, and characterized by delayed psychomotor development and neurodevelopmental regression. Additional variable symptoms include poor or absent speech, inability to walk, and abnormal movements. {ECO:0000269|PubMed:28777931}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:28777931}.
uniprot
proteins
mass_dalton
25650
uniprot
proteins
protein_family
Mitochondrion-specific ribosomal protein mS34 family
uniprot
proteins
pubmed
11279123
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25838379
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28777931
uniprot
proteins
sequence_length
218
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11279123}.
uniprot
proteins