MRPL49
entrez
740
canonical
uniprot
Q13405
canonical
ensembl
ENSG00000149792
resolver
ensp
ENSP00000279242
resolver
ensp
ENSP00000434190
resolver
enst
ENST00000279242
resolver
enst
ENST00000526319
resolver
genesymbol
MRPL49
resolver
genesymbol_syn
C11orf4
resolver
genesymbol_syn
NOF1
resolver
hgnc
HGNC:1176
resolver
uniprot
B2R4G6
resolver
uniprot_entry
RM49_HUMAN
resolver
uniprot_sec
B2R4G6
resolver
amino_acid_sequence
MAATMFRATLRGWRTGVQRGCGLRLLSQTQGPPDYPRFVESVDEYQFVERLLPATRIPDPPKHEHYPTPSGWQPPRDPPPNLPYFVRRSRMHNIPVYKDITHGNRQMTVIRKVEGDIWALQKDVEDFLSPLLGKTPVTQVNEVTGTLRIKGYFDQELKAWLLEKGF
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 60 (COXPD60) [MIM:621195]: An autosomal recessive mitochondrial disease characterized by diverse clinical manifestations encompassing bilateral sensorineural hearing loss and primary ovarian insufficiency, microcephaly, learning disability, developmental delay, leukodystrophy, and retinal disease. {ECO:0000269|PubMed:40043708}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
19198
uniprot
proteins
protein_family
Mitochondrion-specific ribosomal protein mL49 family
uniprot
proteins
pubmed
11551941
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25278503
uniprot
proteins
pubmed
25838379
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28892042
uniprot
proteins
pubmed
35177605
uniprot
proteins
pubmed
40043708
uniprot
proteins
pubmed
8786148
uniprot
proteins
sequence_length
166
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}.
uniprot
proteins