This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but ... See more...

Aliases for SEPTIN1 Gene

Aliases for SEPTIN1 Gene

  • Septin 1 2 3 5
  • PNUTL3 2 3 4
  • Serologically Defined Breast Cancer Antigen NY-BR-24 3 4
  • Peanut-Like Protein 3 3 4
  • Septin-1 3 4
  • DIFF6 3 4
  • SEPT1 3 4
  • LARP 3 4
  • Differentiation 6 (Deoxyguanosine Triphosphate Triphosphohydrolase) 3
  • SEPTIN1 5
  • SEP1 3

External Ids for SEPTIN1 Gene

Previous HGNC Symbols for SEPTIN1 Gene

  • DIFF6
  • SEPT1

Summaries for SEPTIN1 Gene

Entrez Gene Summary for SEPTIN1 Gene

  • This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012]

GeneCards Summary for SEPTIN1 Gene

SEPTIN1 (Septin 1) is a Protein Coding gene. Diseases associated with SEPTIN1 include Febrile Seizures, Familial, 4 and Febrile Seizures, Familial, 1. Among its related pathways are Bacterial invasion of epithelial cells and Aurora B signaling. An important paralog of this gene is SEPTIN5.

UniProtKB/Swiss-Prot Summary for SEPTIN1 Gene

  • Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).

Gene Wiki entry for SEPTIN1 Gene

Additional gene information for SEPTIN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPTIN1 Gene

Genomics for SEPTIN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEPTIN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J030393 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.6 590 3.6 ZNF221 SP1 HNRNPL PRDM10 ZNF629 IKZF1 CTCF ZNF692 RCOR2 JUND SEPTIN1 lnc-SEPT1-1 ZNF48 SETD1A FUS INO80E SRCAP ZNF785 ZNF764 ZNF689
GH16J030399 Enhancer 0.3 ENCODE 600.7 -1.8 -1804 0 POLR2A SEPTIN1 lnc-SEPT1-1 SNORA80C TBC1D10B CD2BP2 SEPHS2 piR-46669 ZNF771 ZNF48
GH16J030397 Enhancer 0.3 ENCODE 600.7 -1.9 -1944 0.2 POLR2A SEPTIN1 lnc-SEPT1-1 SNORA80C TBC1D10B CD2BP2 SEPHS2 ENSG00000260304 piR-46669 ZNF771 ZNF48
GH16J030416 Promoter/Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas 11.6 -21.8 -21818 2.4 TEAD4 KDM1A CTCF ZNF692 BACH1 TARDBP LARP7 ZNF143 ZIC2 RBFOX2 SNORA80C CD2BP2 SEPTIN1 MYLPF TBC1D10B ZNF688 ENSG00000239791 ZNF785 ZNF689 HIRIP3
GH16J030566 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 3.3 -173.9 -173943 6.1 ZNF221 CEBPG SP1 HNRNPL CREB1 GATAD2A ZBTB33 PRDM10 REST ZNF629 ZNF688 lnc-ITGAL-5 lnc-ITGAL-6 lnc-ZNF785-2 SETD1A SRCAP ENSG00000260267 ZNF747 NPIPB13 INO80E
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPTIN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPTIN1

Genomic Locations for SEPTIN1 Gene

Genomic Locations for SEPTIN1 Gene
chr16:30,378,133-30,395,991
(GRCh38/hg38)
Size:
17,859 bases
Orientation:
Minus strand
chr16:30,389,454-30,407,312
(GRCh37/hg19)
Size:
17,859 bases
Orientation:
Minus strand

Genomic View for SEPTIN1 Gene

Genes around SEPTIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPTIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPTIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPTIN1 Gene

Proteins for SEPTIN1 Gene

  • Protein details for SEPTIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYJ6-SEPT1_HUMAN
    Recommended name:
    Septin-1
    Protein Accession:
    Q8WYJ6
    Secondary Accessions:
    • B4DVE6
    • Q658T1
    • Q8NEZ1
    • Q96EL4
    • Q9H285

    Protein attributes for SEPTIN1 Gene

    Size:
    367 amino acids
    Molecular mass:
    41971 Da
    Quaternary structure:
    • Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation (By similarity). Interacts with AURKB.
    SequenceCaution:
    • Sequence=AAK61491.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SEPTIN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPTIN1 Gene

Post-translational modifications for SEPTIN1 Gene

  • Ubiquitination at Lys3, Lys82, Lys84, Lys162, Lys171, Lys278, Lys331, and Lys349
  • Modification sites at PhosphoSitePlus

Other Protein References for SEPTIN1 Gene

No data available for DME Specific Peptides for SEPTIN1 Gene

Domains & Families for SEPTIN1 Gene

Gene Families for SEPTIN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SEPTIN1 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q8WYJ6

UniProtKB/Swiss-Prot:

SEPT1_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 SEPTIN1: view

No data available for Suggested Antigen Peptide Sequences for SEPTIN1 Gene

Function for SEPTIN1 Gene

Molecular function for SEPTIN1 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).

Phenotypes From GWAS Catalog for SEPTIN1 Gene

Gene Ontology (GO) - Molecular Function for SEPTIN1 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 16179162
GO:0005525 GTP binding IEA --
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with SEPTIN1: view
genes like me logo Genes that share phenotypes with SEPTIN1: view

Animal Model Products

CRISPR Products

miRNA for SEPTIN1 Gene

miRTarBase miRNAs that target SEPTIN1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEPTIN1 Gene

Localization for SEPTIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPTIN1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Midbody. Note=Remains at the centrosomes and the nearby microtubules throughout mitosis. Localizes to the midbody during cytokinesis.

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 SEPTIN1 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEPTIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005940 septin ring IBA 21873635
genes like me logo Genes that share ontologies with SEPTIN1: view

Pathways & Interactions for SEPTIN1 Gene

genes like me logo Genes that share pathways with SEPTIN1: view

Pathways by source for SEPTIN1 Gene

1 BioSystems pathway for SEPTIN1 Gene
1 KEGG pathway for SEPTIN1 Gene

Gene Ontology (GO) - Biological Process for SEPTIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007056 spindle assembly involved in female meiosis IEA --
GO:0017157 regulation of exocytosis IBA 21873635
GO:0034613 cellular protein localization IBA 21873635
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with SEPTIN1: view

No data available for SIGNOR curated interactions for SEPTIN1 Gene

Drugs & Compounds for SEPTIN1 Gene

No Compound Related Data Available

Transcripts for SEPTIN1 Gene

mRNA/cDNA for SEPTIN1 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
11 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 SEPTIN1

Alternative Splicing Database (ASD) splice patterns (SP) for SEPTIN1 Gene

No ASD Table

Relevant External Links for SEPTIN1 Gene

GeneLoc Exon Structure for
SEPTIN1

Expression for SEPTIN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPTIN1

SOURCE GeneReport for Unigene cluster for SEPTIN1 Gene:

Hs.632176

mRNA Expression by UniProt/SwissProt for SEPTIN1 Gene:

Q8WYJ6-SEPT1_HUMAN
Tissue specificity: Expressed at high levels in lymphoid and hematopoietic tissues.

Evidence on tissue expression from TISSUES for SEPTIN1 Gene

  • Liver(4.3)
  • Spleen(4.3)
  • Stomach(4.2)
  • Muscle(3.1)
  • Intestine(3)
  • Blood(2.6)
  • Nervous system(2.1)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 SEPTIN1 Gene

Orthologs for SEPTIN1 Gene

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

Orthologs for SEPTIN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEPT1 30
  • 99.6 (n)
-- 31
  • 99 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 96 (a)
OneToMany
SEPT1 30
  • 90.26 (n)
Cow
(Bos Taurus)
Mammalia SEPT1 30 31
  • 90.74 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Sept1 30
  • 88.8 (n)
Mouse
(Mus musculus)
Mammalia Sept1 30 31
  • 88.71 (n)
OneToMany
Septin1 17
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 88 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 73 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 73 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii sept7b 31
  • 41 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Sep4 31
  • 45 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPR28 33
Species where no ortholog for SEPTIN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SEPTIN1 Gene

ENSEMBL:
Gene Tree for SEPTIN1 (if available)
TreeFam:
Gene Tree for SEPTIN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPTIN1: view image

Paralogs for SEPTIN1 Gene

genes like me logo Genes that share paralogs with SEPTIN1: view

Variants for SEPTIN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPTIN1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs34518080 - p.Gly80Val

Additional dbSNP identifiers (rs#s) for SEPTIN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SEPTIN1 Gene

Variant ID Type Subtype PubMed ID
nsv1782 CNV deletion 18451855
nsv827612 CNV gain 20364138

Variation tolerance for SEPTIN1 Gene

Residual Variation Intolerance Score: 58.2% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEPTIN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPTIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPTIN1 Gene

Disorders for SEPTIN1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SEPTIN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
febrile seizures, familial, 4
  • feb4
febrile seizures, familial, 1
  • feb1
amyotrophic neuralgia
  • neuralgic amyotrophy
brachial plexus neuropathy
  • brachial plexopathy
yaws
  • bouba
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SEPTIN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPTIN1 Gene

Publications for SEPTIN1 Gene

  1. From midbody protein-protein interaction network construction to novel regulators in cytokinesis. (PMID: 19799413) Chen TC … Huang CY (Journal of proteome research 2009) 3 4
  2. Septin1, a new interaction partner for human serine/threonine kinase aurora-B. (PMID: 16179162) Qi M … Yu L (Biochemical and biophysical research communications 2005) 3 4
  3. Expression profiling the human septin gene family. (PMID: 15915442) Hall PA … Russell SE (The Journal of pathology 2005) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression. (PMID: 12747765) Scanlan MJ … Old LJ (Cancer immunity 2001) 3 4

Products for SEPTIN1 Gene

  • Signalway Proteins for SEPTIN1

Sources for SEPTIN1 Gene