Q9NWS8 · RMND1_HUMAN
- ProteinRequired for meiotic nuclear division protein 1 homolog
- GeneRMND1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids449 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | mitochondrion | |
Biological Process | positive regulation of mitochondrial translation | |
Biological Process | translation |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameRequired for meiotic nuclear division protein 1 homolog
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9NWS8
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: May be localized in mitochondrial RNA granules (PubMed:25604853).
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Combined oxidative phosphorylation deficiency 11 (COXPD11)
- Note
- DescriptionA 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.
- See alsoMIM:614922
Natural variants in COXPD11
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_069036 | 417 | R>Q | in COXPD11; alters homooligomeric formation of the protein; decreases the levels of mitochondrial protein synthesis; dbSNP:rs397515421 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_051864 | 42 | in dbSNP:rs11550103 | |||
Sequence: S → I | ||||||
Natural variant | VAR_051865 | 47 | in dbSNP:rs6934360 | |||
Sequence: R → H | ||||||
Natural variant | VAR_025754 | 132 | in dbSNP:rs3734800 | |||
Sequence: T → M | ||||||
Natural variant | VAR_069036 | 417 | in COXPD11; alters homooligomeric formation of the protein; decreases the levels of mitochondrial protein synthesis; dbSNP:rs397515421 | |||
Sequence: R → Q |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 468 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for transit peptide, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transit peptide | 1-12 | Mitochondrion | ||||
Sequence: MPATLLRAVARS | ||||||
Chain | PRO_0000229732 | 13-449 | Required for meiotic nuclear division protein 1 homolog | |||
Sequence: HHILSKAHQCRRIGHLMLKPLKEFENTTCSTLTIRQSLDLFLPDKTASGLNKSQILEMNQKKSDTSMLSPLNAARCQDEKAHLPTMKSFGTHRRVTHKPNLLGSKWFIKILKRHFSSVSTETFVPKQDFPQVKRPLKASRTRQPSRTNLPVLSVNEDLMHCTAFATADEYHLGNLSQDLASHGYVEVTSLPRDAANILVMGVENSAKEGDPGTIFFFREGAAVFWNVKDKTMKHVMKVLEKHEIQPYEIALVHWENEELNYIKIEGQSKLHRGEIKLNSELDLDDAILEKFAFSNALCLSVKLAIWEASLDKFIESIQSIPEALKAGKKVKLSHEEVMQKIGELFALRHRINLSSDFLITPDFYWDRENLEGLYDKTCQFLSIGRRVKVMNEKLQHCMELTDLMRNHLNEKRALRLEWMIVILITIEVMFELGRVFF |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9NWS8 | DNAJC1 Q96KC8 | 2 | EBI-4401316, EBI-296550 | |
BINARY | Q9NWS8 | FAM9B Q8IZU0 | 3 | EBI-4401316, EBI-10175124 | |
BINARY | Q9NWS8 | GALNT6 Q8NCL4 | 4 | EBI-4401316, EBI-3907241 | |
BINARY | Q9NWS8-3 | KAT5 Q92993 | 3 | EBI-25884400, EBI-399080 | |
BINARY | Q9NWS8-3 | LMO3 Q8TAP4-4 | 3 | EBI-25884400, EBI-11742507 | |
BINARY | Q9NWS8-3 | PPIB P23284 | 3 | EBI-25884400, EBI-359252 | |
BINARY | Q9NWS8-3 | PRKCA P17252 | 3 | EBI-25884400, EBI-1383528 | |
BINARY | Q9NWS8-3 | SETDB1 Q15047-2 | 3 | EBI-25884400, EBI-9090795 | |
BINARY | Q9NWS8-3 | YWHAG P61981 | 3 | EBI-25884400, EBI-359832 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence & Isoforms
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 3 isoforms produced by Alternative splicing.
Q9NWS8-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length449
- Mass (Da)51,604
- Last updated2006-04-04 v2
- ChecksumC4A7B8F6A397B385
Q9NWS8-2
- Name2
- Differences from canonical
- 1-211: Missing
Q9NWS8-3
- Name3
Computationally mapped potential isoform sequences
There are 9 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A2R8Y4P5 | A0A2R8Y4P5_HUMAN | RMND1 | 324 | ||
A0A2R8Y4J4 | A0A2R8Y4J4_HUMAN | RMND1 | 444 | ||
A0A2R8YFC3 | A0A2R8YFC3_HUMAN | RMND1 | 247 | ||
A0A2U3TZJ1 | A0A2U3TZJ1_HUMAN | RMND1 | 38 | ||
A0A804HHW6 | A0A804HHW6_HUMAN | RMND1 | 521 | ||
A0A804HHY2 | A0A804HHY2_HUMAN | RMND1 | 383 | ||
A0A804HLE1 | A0A804HLE1_HUMAN | RMND1 | 418 | ||
A0A804HKF8 | A0A804HKF8_HUMAN | RMND1 | 372 | ||
A0A087WXU0 | A0A087WXU0_HUMAN | RMND1 | 279 |
Features
Showing features for alternative sequence, sequence conflict.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK000634 EMBL· GenBank· DDBJ | BAA91299.1 EMBL· GenBank· DDBJ | mRNA | ||
AK292339 EMBL· GenBank· DDBJ | BAF85028.1 EMBL· GenBank· DDBJ | mRNA | ||
AL590413 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL590543 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471051 EMBL· GenBank· DDBJ | EAW47747.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC012081 EMBL· GenBank· DDBJ | AAH12081.1 EMBL· GenBank· DDBJ | mRNA | ||
BC106065 EMBL· GenBank· DDBJ | AAI06066.1 EMBL· GenBank· DDBJ | mRNA | ||
BC119683 EMBL· GenBank· DDBJ | AAI19684.1 EMBL· GenBank· DDBJ | mRNA |