MRPS28
entrez
28957
canonical
uniprot
Q9Y2Q9
canonical
ensembl
ENSG00000147586
resolver
ensp
ENSP00000276585
resolver
enst
ENST00000276585
resolver
genesymbol
MRPS28
resolver
genesymbol_syn
MRPS35
resolver
hgnc
HGNC:14513
resolver
uniprot
A0A0S2Z563
resolver
uniprot
B2RDZ7
resolver
uniprot
Q96Q21
resolver
uniprot_entry
A0A0S2Z563_HUMAN
resolver
uniprot_entry
RT28_HUMAN
resolver
uniprot_sec
B2RDZ7
resolver
uniprot_sec
Q96Q21
resolver
amino_acid_sequence
MAALCRTRAVAAESHFLRVFLFFRPFRGVGTESGSESGSSNAKEPKTRAGGFASALERHSELLQKVEPLQKGSPKNVESFASMLRHSPLTQMGPAKDKLVIGRIFHIVENDLYIDFGGKFHCVCRRPEVDGEKYQKGTRVRLRLLDLELTSRFLGATTDTTVLEANAVLLGIQESKDSRSKEEHHEK
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 47 (COXPD47) [MIM:618958]: An autosomal recessive, multisystemic, mitochondrial disorder characterized by intrauterine growth retardation, swallowing difficulties with failure to thrive, hypoglycemia, dehydration, and hepatomegaly. Additional features include global developmental delay with impaired intellectual development and absent speech, microcephaly, facial dysmorphism, cataract, sensorineural deafness, skeletal features, and cryptorchidism. Laboratory studies show metabolic acidosis, increased serum lactate, and variably impaired activity of mitochondrial respiratory complexes I, III, IV, and V in different tissues. {ECO:0000269|PubMed:30566640}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
20843
uniprot
proteins
protein_family
Bacterial ribosomal protein bS1 family
uniprot
proteins
pubmed
10938081
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11543634
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25838379
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30566640
uniprot
proteins
sequence_length
187
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
uniprot
proteins