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Aliases for SEPT1 Gene

Aliases for SEPT1 Gene

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

External Ids for SEPT1 Gene

Previous HGNC Symbols for SEPT1 Gene

  • DIFF6

Previous GeneCards Identifiers for SEPT1 Gene

  • GC16M029672
  • GC16M030783
  • GC16M030386
  • GC16M030425
  • GC16M030296
  • GC16M027951

Summaries for SEPT1 Gene

Entrez Gene Summary for SEPT1 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 SEPT1 Gene

SEPT1 (Septin 1) is a Protein Coding gene. Among its related pathways are Aurora B signaling and Bacterial invasion of epithelial cells. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is SEPT4.

UniProtKB/Swiss-Prot for SEPT1 Gene

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

Gene Wiki entry for SEPT1 Gene

Additional gene information for SEPT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT1 Gene

Genomics for SEPT1 Gene

Regulatory Elements for SEPT1 Gene

Enhancers for SEPT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H030416 1.5 FANTOM5 Ensembl ENCODE 11.6 -21.8 -21819 2 ARNT SIN3A GLIS2 ELK1 ZNF143 ZNF207 KLF7 RUNX3 ZNF488 ZNF592 ENSG00000260304 CD2BP2 SEPT1 TBC1D10B MYLPF SETD1A ENSG00000239791 ZNF688 ZNF785 ZNF689
GH16H030566 2.1 FANTOM5 Ensembl ENCODE dbSUPER 3.3 -173.9 -173884 6 ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC ZC3H11A SETD1A SRCAP ENSG00000260267 ZNF747 NPIPB13 INO80E ZNF764 C16orf58 SMG1P5 SMG1P2
GH16H030444 1.5 FANTOM5 ENCODE 4.3 -50.4 -50431 4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 SETD1A ZNF689 TAOK2 RNF40 SRCAP ZNF764 LOC730183 ZNF646 KAT8 ENSG00000260304
GH16H030469 1.3 FANTOM5 ENCODE 2.4 -76.4 -76434 6 HDGF PKNOX1 SIN3A ARID4B YBX1 YY1 ZNF143 ZNF207 ATF7 RUNX3 ITGAL SMG1P5 ENSG00000261367 SEPT1 CORO1A ENSG00000222701
GH16H030398 1.4 Ensembl ENCODE 0.7 -4.4 -4405 3 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 SMG1P5 FUS ZNF785 ENSG00000260114 ZNF747 SETD1A TBC1D10B SPN PYCARD CD2BP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEPT1 on UCSC Golden Path with GeneCards custom track

Promoters for SEPT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085191 591 1601 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B SLC30A9

Genomic Location for SEPT1 Gene

Chromosome:
16
Start:
30,378,133 bp from pter
End:
30,395,991 bp from pter
Size:
17,859 bases
Orientation:
Minus strand

Genomic View for SEPT1 Gene

Genes around SEPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT1 Gene

Proteins for SEPT1 Gene

  • Protein details for SEPT1 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 SEPT1 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 SEPT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPT1 Gene

Post-translational modifications for SEPT1 Gene

  • Ubiquitination at Lys3, isoforms=282, Lys84, Lys162, isoforms=171, Lys278, Lys331, and isoforms=349
  • Modification sites at PhosphoSitePlus

Other Protein References for SEPT1 Gene

No data available for DME Specific Peptides for SEPT1 Gene

Domains & Families for SEPT1 Gene

Gene Families for SEPT1 Gene

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

Protein Domains for SEPT1 Gene

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 SEPT1: view

No data available for Suggested Antigen Peptide Sequences for SEPT1 Gene

Function for SEPT1 Gene

Molecular function for SEPT1 Gene

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

Phenotypes From GWAS Catalog for SEPT1 Gene

Gene Ontology (GO) - Molecular Function for SEPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 SEPT1: view
genes like me logo Genes that share phenotypes with SEPT1: view

Animal Model Products

CRISPR Products

miRNA for SEPT1 Gene

miRTarBase miRNAs that target SEPT1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SEPT1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEPT1 Gene

Localization for SEPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT1 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 SEPT1 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for SEPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0030496 midbody IDA,IEA 19799413
GO:0072687 meiotic spindle IEA --
genes like me logo Genes that share ontologies with SEPT1: view

Pathways & Interactions for SEPT1 Gene

genes like me logo Genes that share pathways with SEPT1: view

Pathways by source for SEPT1 Gene

1 BioSystems pathway for SEPT1 Gene
1 KEGG pathway for SEPT1 Gene

Gene Ontology (GO) - Biological Process for SEPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007056 spindle assembly involved in female meiosis IEA --
GO:0051301 cell division IEA --
GO:0051311 meiotic metaphase plate congression IEA --
genes like me logo Genes that share ontologies with SEPT1: view

No data available for SIGNOR curated interactions for SEPT1 Gene

Drugs & Compounds for SEPT1 Gene

No Compound Related Data Available

Transcripts for SEPT1 Gene

Unigene Clusters for SEPT1 Gene

Septin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SEPT1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b
SP1: - - - - -
SP2: - - - -
SP3: -
SP4: - - - - - -
SP5: - - -
SP6:
SP7:
SP8: - - -
SP9:
SP10: -
SP11: -
SP12:

Relevant External Links for SEPT1 Gene

GeneLoc Exon Structure for
SEPT1
ECgene alternative splicing isoforms for
SEPT1

Expression for SEPT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEPT1 Gene

mRNA differential expression in normal tissues according to GTEx for SEPT1 Gene

This gene is overexpressed in Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for SEPT1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.1), Ovary (8.7), CD8 Tcells (8.1), and CD4 Tcells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEPT1 Gene



Protein tissue co-expression partners for SEPT1 Gene

SOURCE GeneReport for Unigene cluster for SEPT1 Gene:

Hs.632176

mRNA Expression by UniProt/SwissProt for SEPT1 Gene:

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

Evidence on tissue expression from TISSUES for SEPT1 Gene

  • Spleen(4.3)
  • Liver(4.2)
  • Stomach(4.1)
  • Muscle(2.7)
  • Intestine(2.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with SEPT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPT1 Gene

Orthologs for SEPT1 Gene

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

Orthologs for SEPT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPT1 33
  • 99.6 (n)
-- 34
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
OneToMany
SEPT1 33
  • 90.26 (n)
cow
(Bos Taurus)
Mammalia SEPT1 33 34
  • 90.74 (n)
rat
(Rattus norvegicus)
Mammalia Sept1 33
  • 88.8 (n)
mouse
(Mus musculus)
Mammalia Sept1 33 16 34
  • 88.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 73 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii sept7b 34
  • 41 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9699 35
  • 48 (a)
Sep4 34
  • 45 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPR28 36
Species where no ortholog for SEPT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 SEPT1 Gene

ENSEMBL:
Gene Tree for SEPT1 (if available)
TreeFam:
Gene Tree for SEPT1 (if available)

Paralogs for SEPT1 Gene

Paralogs for SEPT1 Gene

genes like me logo Genes that share paralogs with SEPT1: view

Variants for SEPT1 Gene

Sequence variations from dbSNP and Humsavar for SEPT1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs386352335 Uncertain significance 30,377,821(+) CTTCC(A/C)CCCCG downstream-variant-500B, upstream-variant-2KB, reference, missense
rs1000626290 -- 30,383,346(+) ACCGC(A/G)CCTGG intron-variant, upstream-variant-2KB
rs1000670604 -- 30,382,523(+) GACTC(A/C)CCATG intron-variant, splice-donor-variant
rs1001465514 -- 30,383,435(+) CTGCC(C/T)GCCTC intron-variant, upstream-variant-2KB
rs1001526053 -- 30,378,102(+) CCCGC(C/T)GCCTT intron-variant, downstream-variant-500B, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SEPT1 Gene

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

Variation tolerance for SEPT1 Gene

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

Relevant External Links for SEPT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPT1 Gene

Disorders for SEPT1 Gene

Relevant External Links for SEPT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPT1

No disorders were found for SEPT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SEPT1 Gene

Publications for SEPT1 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 60
  2. Expression profiling the human septin gene family. (PMID: 15915442) Hall PA … Russell SE (The Journal of pathology 2005) 3 4 60
  3. 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 60
  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 60
  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 60

Products for SEPT1 Gene

Sources for SEPT1 Gene

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