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This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
SEPTIN9 (Septin 9) is a Protein Coding gene. Diseases associated with SEPTIN9 include Amyotrophy, Hereditary Neuralgic and Brachial Plexus Neuropathy. Among its related pathways are Actin Nucleation by ARP-WASP Complex and Shigellosis. An important paralog of this gene is SEPTIN3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | TAS,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 15485874 |
GO:0005525 | GTP binding | IEA | -- |
GO:0045296 | cadherin binding | HDA | 25468996 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001725 | stress fiber | IDA | 15485874 |
GO:0005737 | cytoplasm | TAS | 10339604 |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005874 | microtubule | IDA | 15485874 |
GO:0005930 | axoneme | IDA | 23572511 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Bacterial invasion of epithelial cells | ||
2 | Shigellosis | ||
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:0007049 | cell cycle | IEA | -- |
GO:0034613 | cellular protein localization | IBA | 21873635 |
GO:0051301 | cell division | IEA | -- |
GO:0061640 | cytoskeleton-dependent cytokinesis | IBA | 21873635 |
GO:1902857 | positive regulation of non-motile cilium assembly | IMP | 23572511 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | SEPT9 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SEPT9 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SEPT9 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sept9 30 31 |
|
OneToOne | |
Septin9 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Sept9 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SEPT9 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SEPT9 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SEPT9 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sept9 30 |
|
||
Str.14028 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8325 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sept9b 31 |
|
OneToMany | |
sept9a 30 31 |
|
OneToMany | |||
msf 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6451 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAR001C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F12848g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CDC10 30 |
|
||
CDC3 31 |
|
OneToMany | |||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03515 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8439 31 |
|
OneToMany | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | spn2 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
694893 | Uncertain Significance: Charcot-Marie-Tooth disease | 77,286,383(+) | C/A | INTRON_VARIANT | |
694894 | Uncertain Significance: Charcot-Marie-Tooth disease | 77,402,198(+) | A/C | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
694895 | Uncertain Significance: Charcot-Marie-Tooth disease | 77,402,596(+) | C/G | MISSENSE_VARIANT | |
694896 | Uncertain Significance: Charcot-Marie-Tooth disease | 77,402,619(+) | C/T | MISSENSE_VARIANT | |
694897 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 77,475,520(+) | T/C | INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
amyotrophy, hereditary neuralgic |
|
|
brachial plexus neuropathy |
|
|
amyotrophic neuralgia |
|
|
brachial plexus neuritis |
|
|
neuritis |
|
|