MRPL3
entrez
11222
canonical
uniprot
P09001
canonical
ensembl
ENSG00000114686
resolver
ensp
ENSP00000264995
resolver
enst
ENST00000264995
resolver
genesymbol
MRPL3
resolver
genesymbol_syn
MRL3
resolver
genesymbol_syn
RPML3
resolver
hgnc
HGNC:10379
resolver
uniprot
Q6IBT2
resolver
uniprot_entry
RM03_HUMAN
resolver
uniprot_sec
Q6IBT2
resolver
amino_acid_sequence
MPGWRLLTQVGAQVLGRLGDGLGAALGPGNRTHIWLFVRGLHGKSGTWWDEHLSEENVPFIKQLVSDEDKAQLASKLCPLKDEPWPIHPWEPGSFRVGLIALKLGMMPLWTKDGQKHVVTLLQVQDCHVLKYTSKENCNGKMATLSVGGKTVSRFRKATSILEFYRELGLPPKQTVKIFNITDNAAIKPGTPLYAAHFRPGQYVDVTAKTIGKGFQGVMKRWGFKGQPATHGQTKTHRRPGAVATGDIGRVWPGTKMPGKMGNIYRTEYGLKVWRINTKHNIIYVNGSVPGHKNCLVKVKDSKLPAYKDLGKNLPFPTYFPDGDEEELPEDLYDENVCQPGAPSITFA
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 9 (COXPD9) [MIM:614582]: A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases. {ECO:0000269|PubMed:21786366}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
38633
uniprot
proteins
protein_family
Universal ribosomal protein uL3 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21786366
uniprot
proteins
pubmed
25278503
uniprot
proteins
pubmed
25838379
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28892042
uniprot
proteins
pubmed
2891103
uniprot
proteins
pubmed
35177605
uniprot
proteins
sequence_length
348
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}.
uniprot
proteins