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The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
GEMIN8 (Gem Nuclear Organelle Associated Protein 8) is a Protein Coding gene. Diseases associated with GEMIN8 include Duodenal Obstruction and Spinal Muscular Atrophy. Among its related pathways are Transport of the SLBP independent Mature mRNA and Gene Expression.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 17023415 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 16434402 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 17023415 |
GO:0005829 | cytosol | TAS | -- |
GO:0032797 | SMN complex | IEA,IDA | 16434402 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of the SLBP independent Mature mRNA |
.55
|
|
2 | RNA transport | ||
3 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000387 | spliceosomal snRNP assembly | IEA,TAS | -- |
GO:0006397 | mRNA processing | IEA | -- |
GO:0008380 | RNA splicing | IEA | -- |
GO:0051170 | import into nucleus | TAS | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | · | 6f | · | 6g | ^ | 7a | · | 7b | · | 7c | · | 7d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GEMIN8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GEMIN8 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gemin8 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gemin8 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GEMIN8 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GEMIN8 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GEMIN8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GEMIN8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GEMIN8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gemin8 30 |
|
||
Str.521 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.4507 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gemin8 30 31 |
|
OneToOne | |
wufd13g07 30 |
|
Disorder | Aliases | PubMed IDs |
---|---|---|
duodenal obstruction |
|
|
spinal muscular atrophy |
|
|
amyotrophic lateral sclerosis 1 |
|
|