Free for academic non-profit institutions. Other users need a Commercial license
The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
ERAL1 (Era Like 12S Mitochondrial RRNA Chaperone 1) is a Protein Coding gene. Diseases associated with ERAL1 include Perrault Syndrome 6 and Perrault Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is GTPBP3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003723 | RNA binding | IEA,HDA | 22658674 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0005525 | GTP binding | IEA | -- |
GO:0019843 | rRNA binding | IEA,IDA | 20604745 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,IDA | -- |
GO:0005743 | mitochondrial inner membrane | IEA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mitochondrial translation | ||
2 | Organelle biogenesis and maintenance | ||
3 | Integrated Breast Cancer Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000028 | ribosomal small subunit assembly | IMP | 20604745 |
GO:0042254 | ribosome biogenesis | IEA | -- |
GO:0070125 | mitochondrial translational elongation | TAS | -- |
GO:0070126 | mitochondrial translational termination | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ERAL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ERAL1 30 |
|
||
cfa-mir-451 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | ERAL1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Eral1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Eral1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ERAL1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ERAL1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ERAL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ERAL1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100495069 30 |
|
||
Str.11903 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | eral1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010622 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7488 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | E02H1.2 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1131692170 | Pathogenic: Perrault syndrome 6. Perrault syndrome 6 (PRLTS6) [MIM:617565] | 28,858,482(+) | A/Tp.Asn236Ile | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3640315 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
perrault syndrome 6 |
|
|
perrault syndrome |
|
|
mirror agnosia |
|
|
lobomycosis |
|
|
her2-receptor positive breast cancer |
|
|