UniProt functional annotation for Q9H9J2



	UniProt functional annotation for Q9H9J2

UniProt code: Q9H9J2.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome. {ECO:0000269|PubMed:23315540}.

Subunit: Component of the mitochondrial large ribosomal subunit (mt- LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. {ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}.

Subcellular location: Mitochondrion {ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}.

Disease: Combined oxidative phosphorylation deficiency 16 (COXPD16) [MIM:615395]: An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle. {ECO:0000269|PubMed:23315540}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the ribonuclease III family. Mitochondrion- specific ribosomal protein mL44 subfamily. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome. {ECO:0000269\|PubMed:23315540}.


Subunit:		Component of the mitochondrial large ribosomal subunit (mt- LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. {ECO:0000269\|PubMed:25278503, ECO:0000269\|PubMed:25838379, ECO:0000269\|PubMed:28892042}.
Subcellular location:		Mitochondrion {ECO:0000269\|PubMed:25278503, ECO:0000269\|PubMed:25838379, ECO:0000269\|PubMed:28892042}.
Disease:		Combined oxidative phosphorylation deficiency 16 (COXPD16) [MIM:615395]: An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle. {ECO:0000269\|PubMed:23315540}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the ribonuclease III family. Mitochondrion- specific ribosomal protein mL44 subfamily. {ECO:0000305}.