MRPS14
entrez
63931
canonical
uniprot
O60783
canonical
ensembl
ENSG00000120333
resolver
ensp
ENSP00000420714
resolver
enst
ENST00000476371
resolver
genesymbol
MRPS14
resolver
hgnc
HGNC:14049
resolver
uniprot
Q5R358
resolver
uniprot_entry
RT14_HUMAN
resolver
uniprot_sec
Q5R358
resolver
amino_acid_sequence
MAAFMLGSLLRTFKQMVPSSASGQVRSHYVDWRMWRDVKRRKMAYEYADERLRINSLRKNTILPKILQDVADEEIAALPRDSCPVRIRNRCVMTSRPRGVKRRWRLSRIVFRHLADHGQLSGIQRATW
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 38 (COXPD38) [MIM:618378]: An autosomal recessive disorder due to mitochondrial dysfunction and characterized by perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability. {ECO:0000269|PubMed:30358850}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
15139
uniprot
proteins
protein_family
Universal ribosomal protein uS14 family
uniprot
proteins
pubmed
10938081
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25838379
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30358850
uniprot
proteins
sequence_length
128
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
uniprot
proteins