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Aliases for SEPT1 Gene

Aliases for SEPT1 Gene

  • Septin 1 2 3
  • DIFF6 3 4 6
  • Serologically Defined Breast Cancer Antigen NY-BR-24 3 4
  • Peanut-Like Protein 3 3 4
  • Pnutl3 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 Bacterial invasion of epithelial cells and Aurora B signaling. GO annotations related to this gene include GTP binding. An important paralog of this gene is SEPT6.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT1 Gene

Genomics for SEPT1 Gene

Regulatory Elements for SEPT1 Gene

Genomic Location for SEPT1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SEPT1 Gene at MOPED

Post-translational modifications for SEPT1 Gene

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

Other Protein References for SEPT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SEPT1 Gene

Domains for SEPT1 Gene

Gene Families for SEPT1 Gene

HGNC:

Protein Domains for SEPT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WYJ6

UniProtKB/Swiss-Prot:

SEPT1_HUMAN :
  • Q8WYJ6
Domain:
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
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:0003924 GTPase activity --
GO:0005515 protein binding IPI 16179162
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with SEPT1: view

Phenotypes for SEPT1 Gene

GenomeRNAi human phenotypes for SEPT1:
genes like me logo Genes that share phenotypes with SEPT1: view

miRNA for SEPT1 Gene

miRTarBase miRNAs that target SEPT1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for SEPT1 Gene 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 IEA --
GO:0031105 septin complex --
genes like me logo Genes that share ontologies with SEPT1: view

Pathways 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:0051301 cell division IEA --
genes like me logo Genes that share ontologies with SEPT1: view

Transcripts for SEPT1 Gene

mRNA/cDNA for SEPT1 Gene

Unigene Clusters for SEPT1 Gene

Septin 1:
Representative Sequences:

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 for SEPT1 Gene

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

This gene is overexpressed in Whole Blood (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB 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.
genes like me logo Genes that share expressions with SEPT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 -- 36
  • 99 (a)
OneToMany
SEPT1 35
  • 99.6 (n)
  • 99.28 (a)
cow
(Bos Taurus)
Mammalia SEPT1 35
  • 90.74 (n)
  • 97 (a)
SEPT1 36
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 96 (a)
OneToMany
SEPT1 35
  • 90.26 (n)
  • 95.9 (a)
mouse
(Mus musculus)
Mammalia Sept1 35
  • 88.71 (n)
  • 95.9 (a)
Sept1 16
Sept1 36
  • 96 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 73 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sept1 35
  • 88.8 (n)
  • 95.08 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 73 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii sept7b 36
  • 41 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Sep4 36
  • 45 (a)
OneToMany
CG9699 37
  • 48 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPR28 38
Species with no ortholog for SEPT1:
  • 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

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 MAF
VAR_051934 -

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

Variant ID Type Subtype PubMed ID
nsv905724 CNV Loss 21882294
nsv827612 CNV Gain 20364138
nsv905725 CNV Loss 21882294
nsv1782 CNV Loss 18451855

Relevant External Links for SEPT1 Gene

HapMap Linkage Disequilibrium report
SEPT1

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

Disorders for SEPT1 Gene

No disorders were found for SEPT1 Gene.

No data available for UniProtKB/Swiss-Prot 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
  2. Identification of septins in neurofibrillary tangles in Alzheimer's disease. (PMID: 9811347) Kinoshita A. … Kimura J. (Am. J. Pathol. 1998) 3 23
  3. 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
  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
  5. Expression profiling the human septin gene family. (PMID: 15915442) Hall P.A. … Russell S.E.H. (J. Pathol. 2005) 3 4

Products for SEPT1 Gene

Sources for SEPT1 Gene

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