Version 5.4
Homo sapiens Protein: RMND1
Summary
InnateDB Protein IDBP-97962.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RMND1
Protein Name required for meiotic nuclear division 1 homolog (S. cerevisiae)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000356272
InnateDB Gene IDBG-97960 (RMND1)
Protein Structure
UniProt Annotation
Function Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome. {ECO:0000269PubMed:23022098}.
Subcellular Localization Mitochondrion {ECO:0000269PubMed:23022098, ECO:0000269PubMed:23022099}.
Disease Associations 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:0000269PubMed:23022098, ECO:0000269PubMed:23022099}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 1 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006412 translation
Cellular Component
GO:0005739 mitochondrion
Protein Structure and Domains
PDB ID
InterPro IPR003734 Protein of unknown function DUF155
PFAM PF02582
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NWS8
PhosphoSite PhosphoSite-Q9NWS8
TrEMBL Q5SZ82
UniProt Splice Variant
Entrez Gene 55005
UniGene Hs.486835
RefSeq NP_060379
HUGO HGNC:21176
OMIM 614917
CCDS CCDS5232
HPRD 09858
IMGT
EMBL AK000634 AK292339 AL590413 AL590543 BC012081 BC106065 BC119683 CH471051
GenPept AAH12081 AAI06066 AAI19684 BAA91299 BAF85028 CAI10940 CAI13588 CAI13594 EAW47747

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca