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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 Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation and Parkinson Disease, Late-Onset. Among its related pathways are ERK Signaling and Nanomaterial induced apoptosis.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
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:0005525 | GTP binding | IMP | 17105210 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | NAS | 11146656 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | NAS | 11146656 |
GO:0005741 | mitochondrial outer membrane | TAS | -- |
GO:0005829 | cytosol | 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:0007420 | brain development | IEA | -- |
GO:0017157 | regulation of exocytosis | IBA | 21873635 |
GO:0030382 | sperm mitochondrion organization | IEA | -- |
GO:0031398 | positive regulation of protein ubiquitination | IDA | 21185211 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SEPT4 32 |
|
||
C17orf47 33 |
|
OneToOne | |||
dog (Canis familiaris) |
Mammalia | C9H17orf47 32 |
|
||
C17orf47 33 |
|
OneToOne | |||
cow (Bos Taurus) |
Mammalia | SEPT4 32 |
|
||
C17orf47 33 |
|
OneToOne | |||
mouse (Mus musculus) |
Mammalia | Sept4 17 32 |
|
||
Gm11492 33 |
|
OneToOne | |||
platypus (Ornithorhynchus anatinus) |
Mammalia | C17orf47 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SEPT4 32 |
|
||
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100485625 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | sept4b 32 |
|
||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4966 32 |
|
||
A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AER238C 32 |
|
||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CDC12 32 |
|
||
K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E21583g 32 |
|
||
bread mold (Neurospora crassa) |
Ascomycetes | NCU03795 32 |
|
||
fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | spn4 32 |
|
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000139594 | -- | 58,520,344(-) | C/A | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
rs1000191272 | -- | 58,537,951(-) | G/A | genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant | |
rs1000222330 | -- | 58,544,766(-) | C/A | upstream_transcript_variant | |
rs1000291718 | -- | 58,534,283(-) | T/G | genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant | |
rs1000412296 | -- | 58,533,889(-) | A/G | genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3640886 | CNV | loss | 21293372 |
esv3640887 | CNV | loss | 21293372 |
esv3640887 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
severe combined immunodeficiency with sensitivity to ionizing radiation |
|
|
parkinson disease, late-onset |
|