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SEPT1 Gene

protein-coding   GIFtS: 54
GCID: GC16M030389

Septin 1


(Previous symbol: DIFF6)
  See SEPT1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Septin 11 2     PNUTL32 3
DIFF61 2 3 5     SEP12
Peanut-Like Protein 32 3     Differentiation 6 (Deoxyguanosine Triphosphate Triphosphohydrolase)2
Serologically Defined Breast Cancer Antigen NY-BR-242 3     septin-12
LARP2 3     

External Ids:    HGNC: 28791   Entrez Gene: 17312   Ensembl: ENSG000001800967   OMIM: 6128975   UniProtKB: Q8WYJ63   
ORGUL members:         

Export aliases for SEPT1 gene to outside databases

Previous GC identifers: GC16M029672 GC16M030783 GC16M030386 GC16M030425 GC16M030296 GC16M027951


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with SEPT1 include breast cancer, and acute myeloid leukemia. GO annotations related to this gene include GTP binding. An important paralog of this gene is SEPT3.

UniProtKB/Swiss-Prot: SEPT1_HUMAN, Q8WYJ6
Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential)

Gene Wiki entry for SEPT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_187260.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEPT1 gene promoter:
         Bach1   HOXA9   HOXA9B   Elk-1   p53   Tal-1beta   E47   Meis-1b   AREB6   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SEPT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEPT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.1   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

SEPT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPT1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M030389:  view genomic region     (about GC identifiers)

Start:
30,389,454 bp from pter      End:
30,407,312 bp from pter
Size:
17,859 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SEPT1_HUMAN, Q8WYJ6 (See protein sequence)
Recommended Name: Septin-1  
Size: 367 amino acids; 41971 Da
Subunit: 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
Sequence caution: Sequence=AAK61491.1; Type=Erroneous initiation;
Secondary accessions: B4DVE6 Q658T1 Q8NEZ1 Q96EL4 Q9H285
Alternative splicing: 2 isoforms:  Q8WYJ6-1   Q8WYJ6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEPT1: NX_Q8WYJ6

Explore proteomics data for SEPT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys82, Lys84, Lys162, Lys171, Lys278, Lys331, Lys349
  • Modification sites at PhosphoSitePlus

  • See SEPT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_443070.5  
    ENSEMBL proteins: 
     ENSP00000324511   ENSP00000459780   ENSP00000456512   ENSP00000456541   ENSP00000460441  

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    antibodies-online proteins for SEPT1 (6 products) 

     
    antibodies-online peptides for SEPT1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SEPT: Septins

    3 InterPro protein domains:
     IPR016491 Septin
     IPR000038 Cell_div_GTP-bd
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q8WYJ6

    ProtoNet protein and cluster: Q8WYJ6

    1 Blocks protein domain: IPB000038 Cell division/GTP binding protein

    UniProtKB/Swiss-Prot: SEPT1_HUMAN, Q8WYJ6
    Similarity: Belongs to the septin family


    Find genes that share domains with SEPT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SEPT1_HUMAN, Q8WYJ6
    Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity ----
    GO:0005515protein binding IPI16179162
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with SEPT1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SEPT1:
     Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SEPT1

    miRNA
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    hsa-mir-320a (MIRT044485), hsa-mir-335-5p (MIRT018775), hsa-mir-34a-5p (MIRT025436)

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    hsa-miR-542-5p hsa-miR-25*
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SEPT1_HUMAN, Q8WYJ6: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). 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: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005815microtubule organizing center IEA--
    GO:0030496midbody IEA--
    GO:0031105septin complex IEA--

    Find genes that share ontologies with SEPT1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SEPT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Bacterial invasion of epithelial cells
    Bacterial invasion of epithelial cells
    2Aurora B signaling
    Aurora B signaling


    Find genes that share SuperPaths with SEPT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SEPT1
        Aurora B signaling


    1 Kegg Pathway  (Kegg details for SEPT1):
        Bacterial invasion of epithelial cells

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEPT1
    Interactions:

        GeneGlobe Interaction Network for SEPT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for SEPT1 (Q8WYJ61, 2, 3 ENSP000003245114) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AURKBQ96GD41, 3, ENSP000003139504EBI-693002,EBI-624291 I2D: score=1 STRING: ENSP00000313950
    SEPT6Q141413, ENSP000003415244I2D: score=4 STRING: ENSP00000341524
    SEPT11Q9NVA23, ENSP000002648934I2D: score=1 STRING: ENSP00000264893
    SEPT14Q6ZU153, ENSP000003736274I2D: score=1 STRING: ENSP00000373627
    SEPT2Q150193, ENSP000003531574I2D: score=1 STRING: ENSP00000353157
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007049cell cycle IEA--
    GO:0051301cell division IEA--

    Find genes that share ontologies with SEPT1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SEPT1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SEPT1 gene: 
    NM_052838.4  

    Unigene Cluster for SEPT1:

    Septin 1
    Hs.632176  [show with all ESTs]
    Unigene Representative Sequence: NM_052838
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321367(uc002dxy.3) ENST00000563957(uc010veq.1) ENST00000572252
    ENST00000573615 ENST00000566517 ENST00000568577 ENST00000563743 ENST00000562152
    ENST00000570039 ENST00000567783 ENST00000571393
    miRNA
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    hsa-miR-542-5p hsa-miR-25*
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      QuantiFast Probe-based Assays in human, mouse, rat SEPT1

    Additional mRNA sequence: 

    AF085235.1 AY034176.1 BC012161.1 

    11 DOTS entries:

    DT.97838537  DT.445589  DT.120682311  DT.100643617  DT.100744780  DT.120682316  DT.95075701  DT.120682304 
    DT.75114923  DT.91657864  DT.456115 

    Selected AceView cDNA sequences (see all 107):

    CR610165 CR604490 BQ574413 CR603276 AW407122 CR622773 AW575936 AI379541 
    BC012161 AW662895 CR615337 AL582957 BM998175 BG106737 NM_052838 CR594519 
    BQ061356 CR606716 CR590264 BX349321 AW405169 BX436937 BX421730 BG757047 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEPT1 (see all 12)    About this scheme

    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:                                                                                            -           -                 -                           


    ECgene alternative splicing isoforms for SEPT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SEPT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAGAGATGC
    SEPT1 Expression
    About this image

    SEPT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEPT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632176

    UniProtKB/Swiss-Prot: SEPT1_HUMAN, Q8WYJ6
    Tissue specificity: Expressed at high levels in lymphoid and hematopoietic tissues

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SEPT1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sept11 , 5 septin 11, 5 88.71(n)1
    95.9(a)1
      7 (69.39 cM)5
    542041  NM_017461.21  NP_059489.21 
     1272144475 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    73(a)
    1 → many
    GL343516.1(283987-292080)
    zebrafish
    (Danio rerio)
    Actinopterygii sept7b6
    septin 7b
    41(a)
    many ↔ many
    25(13044092-13097849) ENSDARG00000019649
    fruit fly
    (Drosophila melanogaster)
    Insecta CG96993 cytokinesis 48(a)   15A1   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEPT1 gene
    SEPT32  SEPT92  SEPT142  SEPT42  SEPT122  SEPT72  ENSG000002704662  SEPT62  
    SEPT112  SEPT22  SEPT102  SEPT82  SEPT52  
    16 SIMAP similar genes for SEPT1 using alignment to 5 protein entries:     SEPT1_HUMAN (see all proteins):
    SEPT4    SEPT2    SEPT5    SEPT9    MAFK    SEPT7
    DKFZp686F17268    Nbla02942    SEPT12    SEPT3    SEPT11    SEPT14
    SEPT10    SEPT8    DKFZp547B243    SEPT6

    Find genes that share paralogs with SEPT1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    1 SNPs for SEPT1    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs345180801,2,4
    ----see VAR_0519342 mis40--------

    HapMap Linkage Disequilibrium report for SEPT1 (30389454 - 30407312 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SEPT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv905724CNV Loss21882294
    nsv1782CNV Loss18451855
    nsv905725CNV Loss21882294
    nsv827612CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612897    OMIM disorders: --

    2 diseases for SEPT1:    
    About MalaCards
    breast cancer    acute myeloid leukemia


    Find genes that share disorders with SEPT1           About GenesLikeMe


    Export disorders for SEPT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SEPT1 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with SEPT1)
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    1. From midbody protein-protein interaction network construction to novel regulators in cytokinesis. (PubMed id 19799413)1, 2 Chen T.C....Huang C.Y. (J. Proteome Res. 2009)
    2. Septin1, a new interaction partner for human serine/threonine kinase aurora-B. (PubMed id 16179162)1, 2 Qi M.... Yu L. (Biochem. Biophys. Res. Commun. 2005)
    3. Expression profiling the human septin gene family. (PubMed id 15915442)1, 2 Hall P.A.... Russell S.E.H. (J. Pathol. 2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression. (PubMed id 12747765)1, 2 Scanlan M.J.... Old L.J. (Cancer Immun. 2001)
    6. Identification of septins in neurofibrillary tangles in Alzheimer's disease. (PubMed id 9811347)1, 9 Kinoshita A....Kimura J. (Am. J. Pathol. 1998)
    7. Possible role of a septin, SEPT1, in spreading in squamous cell carcinoma DJM-1 cells. (PubMed id 23087102)1 Mizutani Y....Nagata K. (Biol. Chem. 2013)
    8. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    9. A cohesin-RAD21 interactome. (PubMed id 22145905)1 Panigrahi A.K....Pati D. (Biochem. J. 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1731 HGNC: 2879 AceView: SEPT1 Ensembl:ENSG00000180096 euGenes: HUgn1731
    ECgene: SEPT1 Kegg: 1731 H-InvDB: SEPT1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SEPT1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SEPT1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SEPT1 gene:
    Search GeneIP for patents involving SEPT1

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