Version 5.4
Homo sapiens Protein: MRPL44
Summary
InnateDB Protein IDBP-82294.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MRPL44
Protein Name mitochondrial ribosomal protein L44
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000258383
InnateDB Gene IDBG-82292 (MRPL44)
Protein Structure
UniProt Annotation
Function Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome. {ECO:0000269PubMed:23315540}.
Subcellular Localization Mitochondrion.
Disease Associations Combined oxidative phosphorylation deficiency 16 (COXPD16) [MIM:615395]: An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle. {ECO:0000269PubMed:23315540}. 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 60 experimentally validated interaction(s) in this database.
Experimentally validated
Total 60 [view]
Protein-Protein 59 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0004525 ribonuclease III activity
GO:0044822 poly(A) RNA binding
Biological Process
GO:0006396 RNA processing
GO:0070125 mitochondrial translational elongation
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic
Cellular Component
GO:0005575 cellular_component
GO:0005739 mitochondrion
GO:0005840 ribosome
Protein Structure and Domains
PDB ID
InterPro IPR000999 Ribonuclease III domain
IPR014720 Double-stranded RNA-binding domain
PFAM PF00636
PF14622
PF00035
PRINTS
PIRSF
SMART SM00535
SM00358
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H9J2
PhosphoSite PhosphoSite-Q9H9J2
TrEMBL A0A024R473
UniProt Splice Variant
Entrez Gene 65080
UniGene Hs.607908
RefSeq NP_075066
HUGO HGNC:16650
OMIM 611849
CCDS CCDS2459
HPRD 14763
IMGT
EMBL AC073641 AK022763 AK024052 BC012058 CH471063 CR457293
GenPept AAH12058 AAY14925 BAB14234 BAB14802 CAG33574 EAW70819 EAW70820

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