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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. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]
MRPL40 (Mitochondrial Ribosomal Protein L40) is a Protein Coding gene. Diseases associated with MRPL40 include Velocardiofacial Syndrome and Digeorge Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22681889 |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS | 9790763 |
GO:0005730 | nucleolus | IDA | -- |
GO:0005739 | mitochondrion | IEA,IDA | 28892042 |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005761 | mitochondrial ribosome | IEA,ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mitochondrial translation | ||
2 | Organelle biogenesis and maintenance |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0009653 | anatomical structure morphogenesis | TAS | 9790763 |
GO:0070125 | mitochondrial translational elongation | TAS | -- |
GO:0070126 | mitochondrial translational termination | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||
SP2: | - | - | |||||||||||||||||||
SP3: | |||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MRPL40 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MRPL40 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Mrpl40 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mrpl40 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MRPL40 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MRPL40 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MRPL40 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | aca-mir-5408a 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mrpl40 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mrpl40 30 31 |
|
OneToOne | |
wufj54c06 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | mRpL40 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000110 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | mrpl-40 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2751940 | CNV | gain | 17911159 |
esv3575418 | CNV | gain | 25503493 |
nsv588216 | CNV | gain | 21841781 |
nsv834124 | CNV | loss | 17160897 |
nsv834127 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
velocardiofacial syndrome |
|
|
digeorge syndrome |
|
|
chromosome 6q24-q25 deletion syndrome |
|
|