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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

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
GH16G030416 1.7 FANTOM5 Ensembl ENCODE 11.6 -21.8 -21819 2.4 CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF416 ZNF263 SP3 NFYC CD2BP2 SEPT1 TBC1D10B MYLPF ZNF668 ENSG00000239791 ZNF688 ZNF785 ZNF689 HIRIP3
GH16G030566 2.1 FANTOM5 Ensembl ENCODE dbSUPER 3.3 -173.9 -173884 6.0 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 ENSG00000260267 ZNF747 NPIPB13 ENSG00000260304 SMG1P2 BCL7C ZNF764 ZNF785 CDIPT PRR14
GH16G030444 1.5 FANTOM5 ENCODE 4.3 -50.4 -50431 4.8 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC KCTD13 ENSG00000260304 ZNF689 BCL7C MIR762HG LOC730183 ENSG00000260114 LOC647086 ENSG00000260060 ZNF785
GH16G030469 1.3 FANTOM5 ENCODE 2.4 -76.4 -76434 6.5 HDGF PKNOX1 WRNIP1 ARID4B SIN3A YBX1 ZNF48 YY1 ZNF143 ZNF207 ITGAL SMG1P5 ENSG00000261367 SEPT1 CORO1A ENSG00000222701
GH16G030398 1.4 Ensembl ENCODE 0.7 -4.4 -4405 3.8 FOXA2 MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 TBC1D10B SMG1P5 CD2BP2 SEPHS2 GC16P030401 PIR39668 SEPT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEPT1 on UCSC Golden Path with GeneCards custom track

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, isoforms=278, Lys331, and Lys349
  • 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

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).

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

miRNA for SEPT1 Gene

miRTarBase miRNAs that target SEPT1

Inhibitory RNA Products

Clone Products

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

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:

Inhibitory RNA Products

Clone Products

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 34
  • 99.6 (n)
-- 35
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 96 (a)
OneToMany
SEPT1 34
  • 90.26 (n)
cow
(Bos Taurus)
Mammalia SEPT1 34 35
  • 90.74 (n)
rat
(Rattus norvegicus)
Mammalia Sept1 34
  • 88.8 (n)
mouse
(Mus musculus)
Mammalia Sept1 34 16 35
  • 88.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 88 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 73 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii sept7b 35
  • 41 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9699 36
  • 48 (a)
Sep4 35
  • 45 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPR28 37
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 T.C. … Huang C.Y. (J. Proteome Res. 2009) 3 4 64
  2. Expression profiling the human septin gene family. (PMID: 15915442) Hall P.A. … Russell S.E.H. (J. Pathol. 2005) 3 4 64
  3. Septin1, a new interaction partner for human serine/threonine kinase aurora-B. (PMID: 16179162) Qi M. … Yu L. (Biochem. Biophys. Res. Commun. 2005) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression. (PMID: 12747765) Scanlan M.J. … Old L.J. (Cancer Immun. 2001) 3 4 64

Products for SEPT1 Gene

Sources for SEPT1 Gene

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