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Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
MRPL44 (Mitochondrial Ribosomal Protein L44) is a Protein Coding gene. Diseases associated with MRPL44 include Combined Oxidative Phosphorylation Deficiency 16 and Combined Oxidative Phosphorylation Deficiency 1. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include ribonuclease III activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22681889 |
GO:0003725 | double-stranded RNA binding | IBA | 21873635 |
GO:0004518 | nuclease activity | IEA | -- |
GO:0004519 | endonuclease activity | IEA | -- |
GO:0004525 | ribonuclease III activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | -- |
GO:0005739 | mitochondrion | IEA,IDA | 28892042 |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005762 | mitochondrial large ribosomal subunit | IDA | 25278503 |
GO:0005840 | ribosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mitochondrial translation | ||
2 | Organelle biogenesis and maintenance |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006396 | RNA processing | IBA | 21873635 |
GO:0030422 | production of siRNA involved in RNA interference | IBA | 21873635 |
GO:0031053 | primary miRNA processing | IBA | 21873635 |
GO:0031054 | pre-miRNA processing | IBA | 21873635 |
GO:0070125 | mitochondrial translational elongation | TAS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | MRPL44 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | MRPL44 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | MRPL44 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Mrpl44 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Mrpl44 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | MRPL44 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | MRPL44 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | MRPL44 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | MRPL44 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | mrpl44 32 |
|
||
Str.5690 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC64346 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | mrpl44 33 32 |
|
OneToOne | |
Dr.2483 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | mRpL44 33 34 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001898 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8292 33 |
|
OneToOne |
SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11546405 | benign, not specified, not provided | 223,959,900(+) | A/G | coding_sequence_variant, synonymous_variant | |
rs11546406 | benign, not specified, - | 223,959,767(+) | C/T | coding_sequence_variant, missense_variant | |
rs141821599 | not-provided, Combined oxidative phosphorylation deficiency 16 | 223,959,850(+) | G/A/T | coding_sequence_variant, missense_variant | |
rs143697995 | likely-pathogenic, pathogenic, Combined oxidative phosphorylation deficiency 16, not provided, Combined oxidative phosphorylation deficiency 16 (COXPD16) [MIM:615395] | 223,959,821(+) | T/C/G | coding_sequence_variant, missense_variant | |
rs1553539922 | not-provided, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 223,959,938(+) | T/C | coding_sequence_variant, missense_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
combined oxidative phosphorylation deficiency 16 |
|
|
combined oxidative phosphorylation deficiency 1 |
|
|