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Aliases for SEPT9 Gene

Aliases for SEPT9 Gene

  • Septin 9 2 3
  • Ov/Br Septin 2 3 4
  • MSF 3 4 6
  • MLL Septin-Like Fusion Protein MSF-A 3 4
  • Ovarian/Breast Septin 3 4
  • Septin D1 3 4
  • NAPB 3 6
  • MSF1 3 6
  • MLL Septin-Like Fusion Protein 4
  • MLL Septin-Like Fusion 2
  • Septin-9 3
  • KIAA0991 4
  • AF17q25 3
  • PNUTL4 3
  • SeptD1 3
  • SINT1 3

External Ids for SEPT9 Gene

Previous Symbols for SEPT9 Gene

  • MSF

Summaries for SEPT9 Gene

Entrez Gene Summary for SEPT9 Gene

  • 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]

GeneCards Summary for SEPT9 Gene

SEPT9 (Septin 9) is a Protein Coding gene. Diseases associated with SEPT9 include neuritis and acute myelomonocytic leukemia. Among its related pathways are ERK Signaling and Actin Nucleation by ARP-WASP Complex. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is SEPT6.

UniProtKB/Swiss-Prot for SEPT9 Gene

  • Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.

Gene Wiki entry for SEPT9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT9 Gene

Genomics for SEPT9 Gene

Genomic Location for SEPT9 Gene

Start:
77,280,569 bp from pter
End:
77,500,596 bp from pter
Size:
220,028 bases
Orientation:
Plus strand

Genomic View for SEPT9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SEPT9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT9 Gene

Regulatory Elements for SEPT9 Gene

Proteins for SEPT9 Gene

  • Protein details for SEPT9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHD8-SEPT9_HUMAN
    Recommended name:
    Septin-9
    Protein Accession:
    Q9UHD8
    Secondary Accessions:
    • A8K2V3
    • B3KPM0
    • B4DTL9
    • B4E0N2
    • B4E274
    • B7Z654
    • Q96QF3
    • Q96QF4
    • Q96QF5
    • Q9HA04
    • Q9UG40
    • Q9Y5W4

    Protein attributes for SEPT9 Gene

    Size:
    586 amino acids
    Molecular mass:
    65401 Da
    Quaternary structure:
    • Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with cellular membranes, actin filaments, and microtubules. GTPase activity is required for filament formation. Interacts with SEPT2, SEPT6, SEPT7, SEPT11 and SEPT14. Interacts with RTKN and ARHGEF18. In a mesenchymal cell line, Rho/RTKN signals cause disruption of wild-type septin filaments, but not of those containing isoform 2 variants HNA Trp-106 and Phe-111. In a mesenchymal cell line, isoform 2 variants HNA Trp-106 and Phe-111, but not wild type, form filaments with SEPT4.
    SequenceCaution:
    • Sequence=BAB14057.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for SEPT9 Gene

neXtProt entry for SEPT9 Gene

Proteomics data for SEPT9 Gene at MOPED

Post-translational modifications for SEPT9 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys186, Lys262, Lys271, Lys326, Lys343, Lys352, Lys357, Lys381, Lys389, Lys431, Lys435, Lys445, Lys476, Lys490, Lys511, Lys519, and Lys549

No data available for DME Specific Peptides for SEPT9 Gene

Domains for SEPT9 Gene

Gene Families for SEPT9 Gene

HGNC:

Protein Domains for SEPT9 Gene

UniProtKB/Swiss-Prot:

SEPT9_HUMAN
Domain:
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.:
    • Q9UHD8
Family:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.:
    • Q9UHD8
genes like me logo Genes that share domains with SEPT9: view

Function for SEPT9 Gene

Molecular function for SEPT9 Gene

UniProtKB/Swiss-Prot Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.

Gene Ontology (GO) - Molecular Function for SEPT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0003677 DNA binding --
GO:0003924 GTPase activity TAS 10339604
GO:0005515 protein binding IPI 15485874
GO:0005524 ATP binding --
genes like me logo Genes that share ontologies with SEPT9: view
genes like me logo Genes that share phenotypes with SEPT9: view

miRNA for SEPT9 Gene

miRTarBase miRNAs that target SEPT9

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SEPT9 Gene

Localization for SEPT9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT9 Gene

Cytoplasm, cytoskeleton. Note=In an epithelial cell line, concentrates at cell-cell contact areas. After TGF-beta1 treatment and induction of epithelial to mesenchymal transition, colocalizes partly with actin stress fibers. During bacterial infection, displays a collar shape structure next to actin at the pole of invading bacteria.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEPT9 Gene COMPARTMENTS Subcellular localization image for SEPT9 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SEPT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 15485874
GO:0005622 intracellular --
GO:0005737 cytoplasm TAS 10339604
GO:0005874 microtubule IDA 15485874
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with SEPT9: view

Pathways for SEPT9 Gene

genes like me logo Genes that share pathways with SEPT9: view

Pathways by source for SEPT9 Gene

2 Qiagen pathways for SEPT9 Gene
1 KEGG pathway for SEPT9 Gene

Gene Ontology (GO) - Biological Process for SEPT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006184 obsolete GTP catabolic process --
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation --
GO:0007264 small GTPase mediated signal transduction --
GO:0008152 metabolic process TAS 10339604
genes like me logo Genes that share ontologies with SEPT9: view

Compounds for SEPT9 Gene

(1) Novoseek inferred chemical compound relationships for SEPT9 Gene

Compound -log(P) Hits PubMed IDs
gtp 35.2 2
genes like me logo Genes that share compounds with SEPT9: view

Transcripts for SEPT9 Gene

mRNA/cDNA for SEPT9 Gene

Unigene Clusters for SEPT9 Gene

Septin 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT9 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - - - - - - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - - - - - - -
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SP36: - -
SP37: -

ExUns: 17 ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b ^ 21a · 21b · 21c · 21d · 21e · 21f · 21g ^ 22 ^ 23a · 23b · 23c · 23d ^ 24 ^ 25a · 25b · 25c · 25d ^ 26 ^ 27 ^
SP1: - - - - - - - - - - - - - - -
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SP3: - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - - - - - - -
SP8:
SP9: - - -
SP10: - - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - - - - - - - - - -
SP12: - - - - - - - - - - -
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SP14: -
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SP27: - -
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SP31:
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SP33: - - - - -
SP34: - -
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SP37: - -

ExUns: 28 ^ 29 ^ 30a · 30b · 30c ^ 31 ^ 32a · 32b · 32c ^ 33a · 33b ^ 34 ^ 35 ^ 36a · 36b · 36c ^ 37 ^ 38a · 38b ^ 39a · 39b ^ 40a · 40b
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - -
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SP9: - -
SP10: - - - - - -
SP11: - - -
SP12: - -
SP13: - -
SP14: - -
SP15:
SP16: -
SP17:
SP18:
SP19: - -
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SP22: - -
SP23:
SP24: - - - - - - - - - - - - - -
SP25:
SP26: - -
SP27:
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SP29:
SP30: - -
SP31:
SP32:
SP33:
SP34:
SP35:
SP36:
SP37:

Relevant External Links for SEPT9 Gene

GeneLoc Exon Structure for
SEPT9
ECgene alternative splicing isoforms for
SEPT9

Expression for SEPT9 Gene

mRNA expression in normal human tissues for SEPT9 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SEPT9 Gene

SOURCE GeneReport for Unigene cluster for SEPT9 Gene Hs.440932

mRNA Expression by UniProt/SwissProt for SEPT9 Gene

Q9UHD8-SEPT9_HUMAN
Tissue specificity: Widely expressed. Isoforms are differentially expressed in testes, kidney, liver heart, spleen, brain, peripheral blood leukocytes, skeletal muscle and kidney. Specific isoforms appear to demonstrate tissue specificity. Isoform 5 is the most highly expressed in fetal tissue. Isoform 1 is detected in all tissues except the brain and thymus, while isoform 2, isoform 3, and isoform 4 are detected at low levels in approximately half of the fetal tissues.
genes like me logo Genes that share expressions with SEPT9: view

Orthologs for SEPT9 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEPT9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEPT9 36
  • 90.43 (n)
  • 92.82 (a)
SEPT9 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT9 36
  • 89.83 (n)
  • 92.65 (a)
SEPT9 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept9 36
  • 86.6 (n)
  • 90.72 (a)
Sept9 16
Sept9 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEPT9 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT9 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sept9 36
  • 86.48 (n)
  • 90.13 (a)
chicken
(Gallus gallus)
Aves SEPT9 36
  • 76.96 (n)
  • 80.61 (a)
SEPT9 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPT9 37
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8325 36
tropical clawed frog
(Silurana tropicalis)
Amphibia sept9 36
  • 69.65 (n)
  • 72.58 (a)
Str.14028 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6451 36
zebrafish
(Danio rerio)
Actinopterygii msf 36
sept9a 36
  • 64.34 (n)
  • 64.87 (a)
sept9a 37
  • 55 (a)
OneToMany
sept9b 37
  • 79 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR001C 36
  • 57.83 (n)
  • 48.66 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC10 36
  • 50.93 (n)
  • 47.22 (a)
CDC3 37
  • 27 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12848g 36
  • 53.94 (n)
  • 49.65 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03515 36
  • 61.37 (n)
  • 51.35 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spn2 36
  • 52.06 (n)
  • 48.38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8439 37
  • 54 (a)
OneToMany
Species with no ortholog for SEPT9:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SEPT9 Gene

ENSEMBL:
Gene Tree for SEPT9 (if available)
TreeFam:
Gene Tree for SEPT9 (if available)

Paralogs for SEPT9 Gene

genes like me logo Genes that share paralogs with SEPT9: view

Variants for SEPT9 Gene

Sequence variations from dbSNP and Humsavar for SEPT9 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs3650 -- 77,419,753(-) AGCCC(A/G)CAGTG intron-variant
rs9038 -- 77,499,315(+) CTGCT(C/T)GGCCA utr-variant-3-prime
rs12969 -- 77,499,447(+) AAAAG(A/G)AAGGA utr-variant-3-prime
rs77246 -- 77,432,448(-) GCCTG(A/G)CACAG intron-variant
rs93075 -- 77,374,386(-) AGTCA(A/C)GAGGA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SEPT9 Gene

Variant ID Type Subtype PubMed ID
esv34174 CNV Loss 18971310
dgv1000e1 CNV Complex 17122850
nsv833551 CNV Gain 17160897
nsv908842 CNV Loss 21882294
nsv833552 CNV Loss 17160897
esv992724 CNV Deletion 20482838
nsv517339 CNV Loss 19592680
nsv908844 CNV Loss 21882294
nsv908845 CNV Loss 21882294
nsv908846 CNV Loss 21882294
nsv457914 CNV Loss 19166990
nsv525375 CNV Loss 19592680
nsv457915 CNV Gain 19166990
nsv525851 CNV Loss 19592680
esv2716278 CNV Deletion 23290073
esv1080795 CNV Deletion 17803354
esv2716279 CNV Deletion 23290073
nsv908847 CNV Loss 21882294
nsv908848 CNV Loss 21882294
nsv111673 CNV Loss 16902084
nsv908849 CNV Loss 21882294
nsv513483 CNV Insertion 21212237
nsv908850 CNV Loss 21882294
dgv3274n71 CNV Loss 21882294
nsv908853 CNV Loss 21882294
esv34184 CNV Loss 18971310
esv2670792 CNV Deletion 23128226
nsv908855 CNV Loss 21882294
nsv2150 CNV Insertion 18451855
esv274097 CNV Insertion 20981092
esv2716280 CNV Deletion 23290073
esv2378475 CNV Deletion 18987734
dgv569e199 CNV Deletion 23128226
esv3114 CNV Deletion 18987735
esv996321 CNV Deletion 20482838
esv2716281 CNV Deletion 23290073
esv1440775 CNV Deletion 17803354
esv1001835 CNV Loss 20482838
nsv526477 CNV Loss 19592680

Relevant External Links for SEPT9 Gene

HapMap Linkage Disequilibrium report
SEPT9
Human Gene Mutation Database (HGMD)
SEPT9
Locus Specific Mutation Databases (LSDB)
SEPT9

Disorders for SEPT9 Gene

(1) OMIM Diseases for SEPT9 Gene (604061)

UniProtKB/Swiss-Prot

SEPT9_HUMAN
  • Note=A chromosomal aberration involving SEPT9/MSF is found in therapy-related acute myeloid leukemia (t-AML). Translocation t(11;17)(q23;q25) with KMT2A/MLL1. {ECO:0000269 PubMed:10339604}.
  • Hereditary neuralgic amyotrophy (HNA) [MIM:162100]: Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition. {ECO:0000269 PubMed:16186812, ECO:0000269 PubMed:17546647, ECO:0000269 PubMed:18492087, ECO:0000269 PubMed:19451530}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) Novoseek inferred disease relationships for SEPT9 Gene

Disease -log(P) Hits PubMed IDs
neuralgic amyotrophy 93.5 6
ovarian neoplasms 58.2 2
leukemia 22 3
tumors 21.3 10

Relevant External Links for SEPT9

GeneTests
SEPT9
GeneReviews
SEPT9
Genetic Association Database (GAD)
SEPT9
Human Genome Epidemiology (HuGE) Navigator
SEPT9
genes like me logo Genes that share disorders with SEPT9: view

Publications for SEPT9 Gene

  1. MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25). (PMID: 10339604) Osaka M. … Zeleznik-Le N.J. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23
  2. AF17q25, a putative septin family gene, fuses the MLL gene in acute myeloid leukemia with t(11;17)(q23;q25). (PMID: 10485469) Taki T. … Hayashi Y. (Cancer Res. 1999) 2 3 23
  3. Genomic and expression analyses of alternatively spliced transcripts of the MLL septin-like fusion gene (MSF) that map to a 17q25 region of loss in breast and ovarian tumors. (PMID: 10673329) Kalikin L.M. … Petty E.M. (Genomics 2000) 3 4 23
  4. Isolation and mapping of a human septin gene to a region on chromosome 17q, commonly deleted in sporadic epithelial ovarian tumors. (PMID: 10987277) Russell S.E.H. … Johnston P.G. (Cancer Res. 2000) 3 4 23
  5. Genomic organization, complex splicing pattern and expression of a human septin gene on chromosome 17q25.3. (PMID: 11593400) McIlhatton M.A. … Russell S.E. (Oncogene 2001) 3 4 23

Products for SEPT9 Gene

Sources for SEPT9 Gene

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