MRPL44
entrez
65080
canonical
uniprot
Q9H9J2
canonical
ensembl
ENSG00000135900
resolver
ensp
ENSP00000258383
resolver
ensp
ENSP00000595282
resolver
enst
ENST00000258383
resolver
enst
ENST00000925223
resolver
genesymbol
MRPL44
resolver
hgnc
HGNC:16650
resolver
uniprot
Q53S16
resolver
uniprot
Q6IA62
resolver
uniprot
Q9H821
resolver
uniprot_entry
RM44_HUMAN
resolver
uniprot_sec
Q53S16
resolver
uniprot_sec
Q6IA62
resolver
uniprot_sec
Q9H821
resolver
amino_acid_sequence
MASGLVRLLQQGHRCLLAPVAPKLVPPVRGVKKGFRAAFRFQKELERQRLLRCPPPPVRRSEKPNWDYHAEIQAFGHRLQENFSLDLLKTAFVNSCYIKSEEAKRQQLGIEKEAVLLNLKSNQELSEQGTSFSQTCLTQFLEDEYPDMPTEGIKNLVDFLTGEEVVCHVARNLAVEQLTLSEEFPVPPAVLQQTFFAVIGALLQSSGPERTALFIRDFLITQMTGKELFEMWKIINPMGLLVEELKKRNVSAPESRLTRQSGGTTALPLYFVGLYCDKKLIAEGPGETVLVAEEEAARVALRKLYGFTENRRPWNYSKPKETLRAEKSITAS
uniprot
proteins
disease_involvement
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.
uniprot
proteins
function
FUNCTION: Component of the 39S subunit of mitochondrial ribosome (PubMed:23315540). May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome (PubMed:23315540). {ECO:0000250|UniProtKB:Q9CY73, ECO:0000269|PubMed:23315540}.
uniprot
proteins
mass_dalton
37535
uniprot
proteins
protein_family
Mitochondrion-specific ribosomal protein mL44 subfamily
uniprot
proteins
protein_family
Ribonuclease III family
uniprot
proteins
pubmed
11551941
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23315540
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25278503
uniprot
proteins
pubmed
25838379
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28892042
uniprot
proteins
pubmed
35177605
uniprot
proteins
sequence_length
332
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}. Mitochondrion matrix {ECO:0000250|UniProtKB:Q9CY73}.
uniprot
proteins