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This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]
SEPTIN4 (Septin 4) is a Protein Coding gene. Diseases associated with SEPTIN4 include Splenic Flexure Cancer and Amyotrophic Neuralgia. Among its related pathways are Actin Nucleation by ARP-WASP Complex and ERK Signaling.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000287 | magnesium ion binding | IMP | 17105210 |
GO:0003924 | GTPase activity | IMP | 17105210 |
GO:0005198 | structural molecule activity | TAS | 9889007 |
GO:0005515 | protein binding | IPI | 17685441 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | NAS | 11146656 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | NAS | 11146656 |
GO:0005741 | mitochondrial outer membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptosis Modulation and Signaling |
.31
|
|
2 | Nanomaterial induced apoptosis | ||
3 | ERK Signaling |
Rho Family GTPases
.61
|
|
4 | Actin Nucleation by ARP-WASP Complex |
RhoA Pathway
.35
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | NAS | 11146656 |
GO:0007049 | cell cycle | IEA | -- |
GO:0007283 | spermatogenesis | IEA | -- |
GO:0017157 | regulation of exocytosis | IBA | 21873635 |
GO:0030154 | cell differentiation | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SEPT4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | C9H17orf47 30 |
|
||
Cow (Bos Taurus) |
Mammalia | SEPT4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sept4 30 31 |
|
OneToOne | |
Septin4 17 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SEPT4 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SEPT4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SEPT4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SEPT4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100485625 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sept4b 30 |
|
||
sept4a 31 |
|
OneToOne | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4966 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Sep4 31 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER238C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CDC12 30 33 33 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E21583g 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03795 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | spn4 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
740880 | Likely Benign: not provided | 58,525,714(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
778530 | Benign: not provided | 58,520,745(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs16943091 | - | p.Cys546Gly | |||
rs17741424 | - | p.Glu311Val | |||
rs17822735 | - | p.Gly461Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3640886 | CNV | loss | 21293372 |
esv3640887 | CNV | loss | 21293372 |
esv3640887 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
splenic flexure cancer |
|
|
amyotrophic neuralgia |
|
|
brachial plexus neuropathy |
|
|
cardiomyopathy, familial hypertrophic, 9 |
|
|
ciliary dyskinesia, primary, 10 |
|
|