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This gene is a member of the septin gene 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 mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]
SEPTIN5 (Septin 5) is a Protein Coding gene. Diseases associated with SEPTIN5 include Digeorge Syndrome and Early-Onset Parkinson's Disease. Among its related pathways are Actin Nucleation by ARP-WASP Complex and Parkinsons Disease Pathway. An important paralog of this gene is SEPT5-GP1BB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | TAS | 21563316 |
GO:0005198 | structural molecule activity | TAS | 9611266 |
GO:0005515 | protein binding | IPI | 10321247 |
GO:0005525 | GTP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005886 | plasma membrane | IDA | 10321247 |
GO:0005940 | septin ring | IBA | 21873635 |
GO:0008021 | synaptic vesicle | IDA | 10321247 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway |
Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
.97
|
|
2 | Parkinson disease | ||
3 | Chks in Checkpoint Regulation |
Parkinson's Disease Pathway
.30
|
|
4 | ERK Signaling |
Rho Family GTPases
.61
|
|
5 | Actin Nucleation by ARP-WASP Complex |
RhoA Pathway
.35
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007049 | cell cycle | IEA | -- |
GO:0016080 | synaptic vesicle targeting | TAS | 10321247 |
GO:0017157 | regulation of exocytosis | IMP | 10321247 |
GO:0030534 | adult behavior | ISS | -- |
GO:0034613 | cellular protein localization | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SEPT5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SEPT5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SEPT5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sept5 30 31 |
|
OneToOne | |
Septin5 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Sept5 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | SEP-05 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SEPT5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sept5 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sept5b 31 |
|
OneToMany | |
sept5a 31 |
|
OneToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Sep4 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
627512 | Conflicting Interpretations: Abnormal bleeding; Macrothrombocytopenia | 19,721,911(+) | GTGCACTACGAGAACT | ||
738672 | Likely Benign: not provided | 19,720,675(+) | G/A | INTRON_VARIANT | |
739548 | Likely Benign: not provided | 19,722,285(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
744189 | Likely Benign: not provided | 19,721,697(+) | C/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
746563 | Likely Benign: not provided | 19,722,273(+) | C/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv725n67 | CNV | gain | 20364138 |
esv2751940 | CNV | gain | 17911159 |
esv3575418 | CNV | gain | 25503493 |
esv3647279 | CNV | gain | 21293372 |
esv3893434 | CNV | gain | 25118596 |
nsv517478 | CNV | loss | 19592680 |
nsv588216 | CNV | gain | 21841781 |
nsv828938 | CNV | gain | 20364138 |
nsv828939 | CNV | loss | 20364138 |
nsv828943 | CNV | loss | 20364138 |
nsv834128 | CNV | loss | 17160897 |
nsv834129 | CNV | loss | 17160897 |
nsv953023 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
digeorge syndrome |
|
|
early-onset parkinson's disease |
|
|
amyotrophic neuralgia |
|
|
brachial plexus neuropathy |
|
|
juvenile-onset parkinson's disease |
|
|