SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009] See more...

Aliases for SEPTIN11 Gene

Aliases for SEPTIN11 Gene

  • Septin 11 2 3 5
  • Septin-11 3 4
  • SEPT11 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • SEPTIN11 5
  • FLJ10849 2

External Ids for SEPTIN11 Gene

Previous HGNC Symbols for SEPTIN11 Gene

  • SEPT11

Summaries for SEPTIN11 Gene

Entrez Gene Summary for SEPTIN11 Gene

  • SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]

GeneCards Summary for SEPTIN11 Gene

SEPTIN11 (Septin 11) is a Protein Coding gene. Diseases associated with SEPTIN11 include Chronic Neutrophilic Leukemia and Amyotrophic Neuralgia. Among its related pathways are Actin Nucleation by ARP-WASP Complex and Shigellosis. An important paralog of this gene is SEPTIN6.

UniProtKB/Swiss-Prot Summary for SEPTIN11 Gene

  • Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and in GABAergic synaptic connectivity (By similarity). During Listeria monocytogenes infection, not required for the bacterial entry process, but restricts its efficacy.

Gene Wiki entry for SEPTIN11 Gene

Additional gene information for SEPTIN11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPTIN11 Gene

Genomics for SEPTIN11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEPTIN11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPTIN11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPTIN11

Genomic Locations for SEPTIN11 Gene

Genomic Locations for SEPTIN11 Gene
chr4:76,949,703-77,040,384
(GRCh38/hg38)
Size:
90,682 bases
Orientation:
Plus strand
chr4:77,870,856-77,961,537
(GRCh37/hg19)
Size:
90,682 bases
Orientation:
Plus strand

Genomic View for SEPTIN11 Gene

Genes around SEPTIN11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPTIN11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPTIN11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPTIN11 Gene

Proteins for SEPTIN11 Gene

  • Protein details for SEPTIN11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVA2-SEP11_HUMAN
    Recommended name:
    Septin-11
    Protein Accession:
    Q9NVA2
    Secondary Accessions:
    • B7Z7Z6
    • E9KL32
    • Q4W5G1
    • Q7L4N1
    • Q96SP1
    • Q9UFY9

    Protein attributes for SEPTIN11 Gene

    Size:
    429 amino acids
    Molecular mass:
    49398 Da
    Quaternary structure:
    • Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. Forms homooligomers. GTPase activity is required for filament formation. Interacts with SEPTIN7, SEPTIN9 and SEPTIN12.
    SequenceCaution:
    • Sequence=BAB55250.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB53741.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for SEPTIN11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPTIN11 Gene

Post-translational modifications for SEPTIN11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SEPTIN11 Gene

Domains & Families for SEPTIN11 Gene

Gene Families for SEPTIN11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SEPTIN11 Gene

InterPro:
Blocks:
  • Cell division/GTP binding protein
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NVA2

UniProtKB/Swiss-Prot:

SEP11_HUMAN :
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
Family:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
genes like me logo Genes that share domains with SEPTIN11: view

No data available for Suggested Antigen Peptide Sequences for SEPTIN11 Gene

Function for SEPTIN11 Gene

Molecular function for SEPTIN11 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and in GABAergic synaptic connectivity (By similarity). During Listeria monocytogenes infection, not required for the bacterial entry process, but restricts its efficacy.

Phenotypes From GWAS Catalog for SEPTIN11 Gene

Gene Ontology (GO) - Molecular Function for SEPTIN11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA 21873635
GO:0005515 protein binding IPI 15485874
GO:0005525 GTP binding IEA --
GO:0060090 molecular adaptor activity IBA 21873635
genes like me logo Genes that share ontologies with SEPTIN11: view
genes like me logo Genes that share phenotypes with SEPTIN11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN11

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEPTIN11 Gene

Localization for SEPTIN11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPTIN11 Gene

Cytoplasm, cytoskeleton. Cell junction, synapse. Cell projection, dendritic spine. Cell projection, axon. Note=Partly colocalizes with stress fibers and microtubules. During bacterial infection, displays a collar shape structure next to actin at the pole of invading bacteria.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEPTIN11 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SEPTIN11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 15485874
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005940 septin ring IBA 21873635
GO:0015630 microtubule cytoskeleton IBA 21873635
genes like me logo Genes that share ontologies with SEPTIN11: view

Pathways & Interactions for SEPTIN11 Gene

PathCards logo

SuperPathways for SEPTIN11 Gene

genes like me logo Genes that share pathways with SEPTIN11: view

Pathways by source for SEPTIN11 Gene

2 KEGG pathways for SEPTIN11 Gene
2 Qiagen pathways for SEPTIN11 Gene
  • Rho Family GTPases
  • RhoA Pathway

Gene Ontology (GO) - Biological Process for SEPTIN11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0034613 cellular protein localization IBA 21873635
GO:0050807 regulation of synapse organization IEA --
GO:0051301 cell division IEA --
GO:0060271 cilium assembly IBA --
genes like me logo Genes that share ontologies with SEPTIN11: view

No data available for SIGNOR curated interactions for SEPTIN11 Gene

Drugs & Compounds for SEPTIN11 Gene

No Compound Related Data Available

Transcripts for SEPTIN11 Gene

mRNA/cDNA for SEPTIN11 Gene

2 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN11

Alternative Splicing Database (ASD) splice patterns (SP) for SEPTIN11 Gene

No ASD Table

Relevant External Links for SEPTIN11 Gene

GeneLoc Exon Structure for
SEPTIN11

Expression for SEPTIN11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPTIN11

SOURCE GeneReport for Unigene cluster for SEPTIN11 Gene:

Hs.128199

mRNA Expression by UniProt/SwissProt for SEPTIN11 Gene:

Q9NVA2-SEP11_HUMAN
Tissue specificity: Widely expressed, except in leukocytes.

Evidence on tissue expression from TISSUES for SEPTIN11 Gene

  • Nervous system(4.9)
  • Skin(4.6)
  • Blood(4.5)
  • Intestine(4.4)
  • Kidney(3.2)
  • Lung(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with SEPTIN11: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPTIN11 Gene

Orthologs for SEPTIN11 Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPTIN11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEPT11 30 31
  • 99.92 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SEPT11 31
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SEPT11 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SEPT11 30 31
  • 93.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEPT11 30 31
  • 92.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sept11 30
  • 89.72 (n)
Mouse
(Mus musculus)
Mammalia Sept11 30 31
  • 88.97 (n)
OneToOne
Septin11 17
Chicken
(Gallus gallus)
Aves SEPT11 30 31
  • 83.61 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEPT11 31
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sept11 30
  • 80.57 (n)
Str.15839 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25342 30
Zebrafish
(Danio rerio)
Actinopterygii sept8b 30
  • 72.53 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Sep5 30
  • 62.97 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 72 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5368 30
Species where no ortholog for SEPTIN11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 SEPTIN11 Gene

ENSEMBL:
Gene Tree for SEPTIN11 (if available)
TreeFam:
Gene Tree for SEPTIN11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPTIN11: view image

Paralogs for SEPTIN11 Gene

genes like me logo Genes that share paralogs with SEPTIN11: view

Variants for SEPTIN11 Gene

Additional dbSNP identifiers (rs#s) for SEPTIN11 Gene

Structural Variations from Database of Genomic Variants (DGV) for SEPTIN11 Gene

Variant ID Type Subtype PubMed ID
esv3451658 CNV insertion 20981092
nsv7363 OTHER inversion 18451855
nsv829973 CNV loss 17160897

Variation tolerance for SEPTIN11 Gene

Residual Variation Intolerance Score: 22.7% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEPTIN11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPTIN11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPTIN11 Gene

Disorders for SEPTIN11 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SEPTIN11 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chronic neutrophilic leukemia
  • cnl
amyotrophic neuralgia
  • neuralgic amyotrophy
brachial plexus neuropathy
  • brachial plexopathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SEP11_HUMAN
  • Note=A chromosomal aberration involving SEPTIN11 may be a cause of chronic neutrophilic leukemia. Translocation t(4;11)(q21;q23) with KMT2A/MLL1.
genes like me logo Genes that share disorders with SEPTIN11: view

No data available for Genatlas for SEPTIN11 Gene

Publications for SEPTIN11 Gene

  1. Septin 11 restricts InlB-mediated invasion by Listeria. (PMID: 19234302) Mostowy S … Cossart P (The Journal of biological chemistry 2009) 3 4 23
  2. FLJ10849, a septin family gene, fuses MLL in a novel leukemia cell line CNLBC1 derived from chronic neutrophilic leukemia in transformation with t(4;11)(q21;q23). (PMID: 14999297) Kojima K … Fujita S (Leukemia 2004) 2 3 4
  3. LOH analysis of genes around D4S2964 identifies ARD1B as a prognostic predictor of hepatocellular carcinoma. (PMID: 20419844) Huang GL … Wang HY (World journal of gastroenterology 2010) 3 23
  4. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PMID: 20736409) Li J … Liu Y (Molecular & cellular proteomics : MCP 2010) 3 4
  5. SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling. (PMID: 17546647) Sudo K … Nagata K (Human mutation 2007) 3 4

Products for SEPTIN11 Gene

Sources for SEPTIN11 Gene