PTCD3
entrez
55037
canonical
uniprot
Q96EY7
canonical
ensembl
ENSG00000132300
resolver
ensp
ENSP00000254630
resolver
genesymbol
PTCD3
resolver
genesymbol_syn
MRPS39
resolver
hgnc
HGNC:24717
resolver
uniprot
A6NHD2
resolver
uniprot
D6W5M1
resolver
uniprot
Q597H0
resolver
uniprot
Q658Y9
resolver
uniprot
Q9BUZ8
resolver
uniprot
Q9NWL0
resolver
uniprot_entry
PTCD3_HUMAN
resolver
uniprot_sec
A6NHD2
resolver
uniprot_sec
D6W5M1
resolver
uniprot_sec
Q597H0
resolver
uniprot_sec
Q658Y9
resolver
uniprot_sec
Q9BUZ8
resolver
uniprot_sec
Q9NWL0
resolver
amino_acid_sequence
MAVVSAVRWLGLRSRLGQPLTGRRAGLCEQARSCRFYSGSATLSKVEGTDVTGIEEVVIPKKKTWDKVAVLQALASTVNRDTTAVPYVFQDDPYLMPASSLESRSFLLAKKSGENVAKFIINSYPKYFQKDIAEPHIPCLMPEYFEPQIKDISEAALKERIELRKVKASVDMFDQLLQAGTTVSLETTNSLLDLLCYYGDQEPSTDYHFQQTGQSEALEEENDETSRRKAGHQFGVTWRAKNNAERIFSLMPEKNEHSYCTMIRGMVKHRAYEQALNLYTELLNNRLHADVYTFNALIEATVCAINEKFEEKWSKILELLRHMVAQKVKPNLQTFNTILKCLRRFHVFARSPALQVLREMKAIGIEPSLATYHHIIRLFDQPGDPLKRSSFIIYDIMNELMGKRFSPKDPDDDKFFQSAMSICSSLRDLELAYQVHGLLKTGDNWKFIGPDQHRNFYYSKFFDLICLMEQIDVTLKWYEDLIPSAYFPHSQTMIHLLQALDVANRLEVIPKIWKDSKEYGHTFRSDLREEILMLMARDKHPPELQVAFADCAADIKSAYESQPIRQTAQDWPATSLNCIAILFLRAGRTQEAWKMLGLFRKHNKIPRSELLNELMDSAKVSNSPSQAIEVVELASAFSLPICEGLTQRVMSDFAINQEQKEALSNLTALTSDSDTDSSSDSDSDTSEGK
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 51 (COXPD51) [MIM:619057]: An autosomal recessive, mitochondrial disorder characterized by intrauterine growth retardation, low birth weight, poor overall growth, progressive limb rigidity, delayed psychomotor development, hearing loss, and optic atrophy. Brain imaging shows abnormal bilateral signs at the basal ganglia and brainstem. Patient cells show decreased mitochondrial complex I and IV levels and activities, and generalized mitochondrial translation defects. {ECO:0000269|PubMed:30607703}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial RNA-binding protein that has a role in mitochondrial translation. {ECO:0000269|PubMed:19427859}.
uniprot
proteins
mass_dalton
78550
uniprot
proteins
protein_family
Mitochondrion-specific ribosomal protein mS39 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19427859
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23908630
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25838379
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30607703
uniprot
proteins
sequence_length
689
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19427859, ECO:0000269|PubMed:23908630}.
uniprot
proteins