RMND1
entrez
55005
canonical
uniprot
Q9NWS8
canonical
ensembl
ENSG00000155906
resolver
ensp
ENSP00000412708
resolver
ensp
ENSP00000481280
resolver
ensp
ENSP00000494106
resolver
enst
ENST00000622845
resolver
enst
ENST00000644711
resolver
genesymbol
RMND1
resolver
genesymbol_syn
C6orf96
resolver
hgnc
HGNC:21176
resolver
uniprot
A0A087WXU0
resolver
uniprot
A0A2R8Y4J4
resolver
uniprot
A8K8H4
resolver
uniprot
Q0VDG6
resolver
uniprot
Q5SZ48
resolver
uniprot
Q5SZ83
resolver
uniprot
Q6NSC5
resolver
uniprot
Q96EN7
resolver
uniprot_entry
A0A087WXU0_HUMAN
resolver
uniprot_entry
A0A2R8Y4J4_HUMAN
resolver
uniprot_entry
RMND1_HUMAN
resolver
uniprot_sec
A8K8H4
resolver
uniprot_sec
Q0VDG6
resolver
uniprot_sec
Q5SZ48
resolver
uniprot_sec
Q5SZ83
resolver
uniprot_sec
Q6NSC5
resolver
uniprot_sec
Q96EN7
resolver
amino_acid_sequence
MPATLLRAVARSHHILSKAHQCRRIGHLMLKPLKEFENTTCSTLTIRQSLDLFLPDKTASGLNKSQILEMNQKKSDTSMLSPLNAARCQDEKAHLPTMKSFGTHRRVTHKPNLLGSKWFIKILKRHFSSVSTETFVPKQDFPQVKRPLKASRTRQPSRTNLPVLSVNEDLMHCTAFATADEYHLGNLSQDLASHGYVEVTSLPRDAANILVMGVENSAKEGDPGTIFFFREGAAVFWNVKDKTMKHVMKVLEKHEIQPYEIALVHWENEELNYIKIEGQSKLHRGEIKLNSELDLDDAILEKFAFSNALCLSVKLAIWEASLDKFIESIQSIPEALKAGKKVKLSHEEVMQKIGELFALRHRINLSSDFLITPDFYWDRENLEGLYDKTCQFLSIGRRVKVMNEKLQHCMELTDLMRNHLNEKRALRLEWMIVILITIEVMFELGRVFF
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 11 (COXPD11) [MIM:614922]: A severe, multisystemic, autosomal recessive, disorder characterized by deficiencies of multiple mitochondrial respiratory enzymes leading to neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures. {ECO:0000269|PubMed:23022098, ECO:0000269|PubMed:23022099, ECO:0000269|PubMed:25604853, ECO:0000269|PubMed:26238252}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853). {ECO:0000269|PubMed:23022098, ECO:0000269|PubMed:25604853}.
uniprot
proteins
mass_dalton
51604
uniprot
proteins
protein_family
RMD1/sif2 family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23022098
uniprot
proteins
pubmed
23022099
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25604853
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26238252
uniprot
proteins
sequence_length
449
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23022098, ECO:0000269|PubMed:23022099, ECO:0000269|PubMed:25604853}. Note=May be localized in mitochondrial RNA granules (PubMed:25604853). {ECO:0000269|PubMed:25604853}.
uniprot
proteins