MRPS22
entrez
56945
canonical
uniprot
P82650
canonical
ensembl
ENSG00000175110
resolver
ensp
ENSP00000310785
resolver
ensp
ENSP00000419303
resolver
ensp
ENSP00000505414
resolver
enst
ENST00000310776
resolver
genesymbol
MRPS22
resolver
genesymbol_syn
C3orf5
resolver
genesymbol_syn
RPMS22
resolver
hgnc
HGNC:14508
resolver
uniprot
A0A7P0MKV3
resolver
uniprot
Q9H3I1
resolver
uniprot_entry
A0A7P0MKV3_HUMAN
resolver
uniprot_entry
RT22_HUMAN
resolver
uniprot_sec
Q9H3I1
resolver
amino_acid_sequence
MAPLGTTVLLWSLLRSSPGVERVCFRARIQPWHGGLLQPLPCSFEMGLPRRRFSSEAAESGSPETKKPTFMDEEVQSILTKMTGLNLQKTFKPAIQELKPPTYKLMTQAQLEEATRQAVEAAKVRLKMPPVLEERVPINDVLAEDKILEGTETTKYVFTDISYSIPHRERFIVVREPSGTLRKASWEERDRMIQVYFPKEGRKILTPIIFKEENLRTMYSQDRHVDVLNLCFAQFEPDSTEYIKVHHKTYEDIDKRGKYDLLRSTRYFGGMVWYFVNNKKIDGLLIDQIQRDLIDDATNLVQLYHVLHPDGQSAQGAKDQAAEGINLIKVFAKTEAQKGAYIELTLQTYQEALSRHSAAS
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 5 (COXPD5) [MIM:611719]: A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia. {ECO:0000269|PubMed:17873122}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ovarian dysgenesis 7 (ODG7) [MIM:618117]: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG7 is an autosomal recessive condition. {ECO:0000269|PubMed:29566152}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
41280
uniprot
proteins
protein_family
Mitochondrion-specific ribosomal protein mS22 family
uniprot
proteins
pubmed
10938081
uniprot
proteins
pubmed
11175783
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17873122
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25838379
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29566152
uniprot
proteins
sequence_length
360
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25838379}.
uniprot
proteins