MRPL39
entrez
54148
canonical
uniprot
Q9NYK5
canonical
ensembl
ENSG00000154719
resolver
ensp
ENSP00000284967
resolver
ensp
ENSP00000305682
resolver
ensp
ENSP00000655727
resolver
genesymbol
MRPL39
resolver
genesymbol_syn
C21orf92
resolver
genesymbol_syn
MRPL5
resolver
genesymbol_syn
RPML5
resolver
hgnc
HGNC:14027
resolver
uniprot
C9JYA5
resolver
uniprot
Q32Q74
resolver
uniprot
Q5QTR3
resolver
uniprot
Q96Q65
resolver
uniprot
Q9BSQ7
resolver
uniprot
Q9BZV6
resolver
uniprot
Q9NX44
resolver
uniprot_entry
RM39_HUMAN
resolver
uniprot_sec
C9JYA5
resolver
uniprot_sec
Q32Q74
resolver
uniprot_sec
Q5QTR3
resolver
uniprot_sec
Q96Q65
resolver
uniprot_sec
Q9BSQ7
resolver
uniprot_sec
Q9BZV6
resolver
uniprot_sec
Q9NX44
resolver
amino_acid_sequence
MEALAMGSRALRLWLVAPGGGIKWRFIATSSASQLSPTELTEMRNDLFNKEKARQLSLTPRTEKIEVKHVGKTDPGTVFVMNKNISTPYSCAMHLSEWYCRKSILALVDGQPWDMYKPLTKSCEIKFLTFKDCDPGEVNKAYWRSCAMMMGCVIERAFKDEYMVNLVRAPEVPVISGAFCYDVVLDSKLDEWMPTKENLRSFTKDAHALIYKDLPFETLEVEAKVALEIFQHSKYKVDFIEEKASQNPERIVKLHRIGDFIDVSEGPLIPRTSICFQYEVSAVHNLQPTQPSLIRRFQGVSLPVHLRAHFTIWDKLLERSRKMVTEDQSKATEECTST
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 59 (COXPD59) [MIM:620646]: An autosomal recessive mitochondrial disease presenting with multisystem manifestations of variable severity. The disease spectrum ranges from lethal infantile Leigh syndrome to a milder disorder characterized by hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder, and survival into adulthood. {ECO:0000269|PubMed:37133451}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
38712
uniprot
proteins
protein_family
Mitochondrion-specific ribosomal protein mL39 family
uniprot
proteins
pubmed
10593885
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
11167009
uniprot
proteins
pubmed
11543634
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
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
37133451
uniprot
proteins
sequence_length
338
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}.
uniprot
proteins