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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. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008]
MRPL43 (Mitochondrial Ribosomal Protein L43) is a Protein Coding gene. Diseases associated with MRPL43 include Spastic Paraplegia 45, Autosomal Recessive and Mitochondrial Dna Depletion Syndrome 7. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0003735 | structural constituent of ribosome | NAS | 11543634 |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,IDA | 28892042 |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005761 | mitochondrial ribosome | NAS | 11543634 |
GO:0005762 | mitochondrial large ribosomal subunit | IBA,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:0006412 | translation | NAS | 11543634 |
GO:0032543 | mitochondrial translation | IEA | -- |
GO:0070125 | mitochondrial translational elongation | TAS | -- |
GO:0070126 | mitochondrial translational termination | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | · | 4c | · | 4d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MRPL43 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MRPL43 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MRPL43 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mrpl43 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MRPL43 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MRPL43 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MRPL43 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mrpl43 30 |
|
||
Str.1656 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC54002 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mrpl43 30 31 |
|
OneToOne | |
Dr.18076 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11068 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012837 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | mRpL43 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | mrpl-34 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
723350 | Likely Benign: not provided | 100,983,761(-) | G/A | MISSENSE_VARIANT,NONSENSE,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
724462 | Benign: not provided | 100,983,388(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
770208 | Benign: not provided | 100,979,179(-) | A/G | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
785327 | Benign: not provided | 100,980,600(-) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
785328 | Benign: not provided | 100,980,986(-) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 45, autosomal recessive |
|
|
mitochondrial dna depletion syndrome 7 |
|
|