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This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012]
SEPTIN1 (Septin 1) is a Protein Coding gene. Diseases associated with SEPTIN1 include Febrile Seizures, Familial, 4 and Febrile Seizures, Familial, 1. Among its related pathways are Bacterial invasion of epithelial cells and Aurora B signaling. An important paralog of this gene is SEPTIN5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 16179162 |
GO:0005525 | GTP binding | IEA | -- |
GO:0042802 | identical protein binding | IPI | 16189514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005815 | microtubule organizing center | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005940 | septin ring | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Bacterial invasion of epithelial cells | ||
2 | Aurora B signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007049 | cell cycle | IEA | -- |
GO:0007056 | spindle assembly involved in female meiosis | IEA | -- |
GO:0017157 | regulation of exocytosis | IBA | 21873635 |
GO:0034613 | cellular protein localization | IBA | 21873635 |
GO:0051301 | cell division | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SEPT1 30 |
|
||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
SEPT1 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | SEPT1 30 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Sept1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Sept1 30 31 |
|
OneToMany | |
Septin1 17 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | sept7b 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Sep4 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SPR28 33 |
|
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs34518080 | - | p.Gly80Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
febrile seizures, familial, 4 |
|
|
febrile seizures, familial, 1 |
|
|
amyotrophic neuralgia |
|
|
brachial plexus neuropathy |
|
|
yaws |
|
|