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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 Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include ribonuclease III activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IEA,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 | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | IEA,IDA | 28892042 |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005762 | mitochondrial large ribosomal subunit | IDA | 25278503 |
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 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MRPL44 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MRPL44 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mrpl44 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mrpl44 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MRPL44 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MRPL44 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MRPL44 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MRPL44 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mrpl44 30 |
|
||
Str.5690 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC64346 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mrpl44 30 31 |
|
OneToOne | |
Dr.2483 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | mRpL44 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001898 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8292 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638416 | Pathogenic: Combined oxidative phosphorylation deficiency 1 | 223,963,907(+) | T/A | NONSENSE | |
667533 | Likely Benign: not provided | 223,966,920(+) | G/A | SYNONYMOUS_VARIANT | |
669505 | Benign: not provided | 223,959,285(+) | C/A | INTRON_VARIANT | |
674589 | Likely Benign: not provided | 223,963,899(+) | C/T | SYNONYMOUS_VARIANT | |
682627 | Benign: not provided | 223,957,073(+) | A/T | GENIC_UPSTREAM_TRANSCRIPT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
combined oxidative phosphorylation deficiency 16 |
|
|
combined oxidative phosphorylation deficiency 1 |
|
|
combined oxidative phosphorylation deficiency 10 |
|
|
neuropathy, hereditary motor and sensory, type via, with optic atrophy |
|
|
mitochondrial complex iv deficiency |
|
|