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SEPT14 Gene

protein-coding   GIFtS: 37
GCID: GC07M055862

Septin 14

  See SEPT14-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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Aliases
Septin 141 2
septin-142

External Ids:    HGNC: 332801   Entrez Gene: 3462882   Ensembl: ENSG000001549977   OMIM: 6121405   UniProtKB: Q6ZU153   

Export aliases for SEPT14 gene to outside databases

Previous GC identifers: GC07M055829 GC07M055675


(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 SEPT14 Gene:
SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in
membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions
(Peterson et al., 2007 (PubMed 17922164)).(supplied by OMIM, Jul 2008)

GeneCards Summary for SEPT14 Gene:
SEPT14 (septin 14) is a protein-coding gene. Diseases associated with SEPT14 include gliosarcoma, and giant cell glioblastoma. GO annotations related to this gene include GTP binding. An important paralog of this gene is SEPT3.

UniProtKB/Swiss-Prot: SEP14_HUMAN, Q6ZU15
Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential)




(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_000007.13  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEPT14 gene promoter:
         MAZR   LCR-F1   C/EBPalpha   HNF-1A   Evi-1   HEN1   AREB6   HNF-1   IRF-7A   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SEPT14

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEPT14


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

Entrez Gene cytogenetic band: 7p11.2   Ensembl cytogenetic band:  7p11.2   HGNC cytogenetic band: 7p11.2

SEPT14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPT14 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M055862:  view genomic region     (about GC identifiers)

Start:
55,861,237 bp from pter      End:
55,930,482 bp from pter
Size:
69,246 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 55,865,484-55,934,729     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SEP14_HUMAN, Q6ZU15 (See protein sequence)
Recommended Name: Septin-14  
Size: 432 amino acids; 50025 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 SEPT9
Sequence caution: Sequence=BAC86412.1; Type=Erroneous initiation;
Secondary accessions: A6NCC2 B4DXD6

Explore the universe of human proteins at neXtProt for SEPT14: NX_Q6ZU15

Explore proteomics data for SEPT14 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SEPT14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_997249.2  
    ENSEMBL proteins: 
     ENSP00000373627  

    SEPT14 Human Recombinant Protein Products:

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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 Q6ZU15

    ProtoNet protein and cluster: Q6ZU15

    UniProtKB/Swiss-Prot: SEP14_HUMAN, Q6ZU15
    Similarity: Belongs to the septin family


    Find genes that share domains with SEPT14           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: SEP14_HUMAN, Q6ZU15
    Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17922164
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with SEPT14           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SEPT14:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEPT14
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    1 qRT-PCR Assays for microRNA that regulate SEPT14:
    hsa-miR-105
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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
    SEP14_HUMAN, Q6ZU15: Cytoplasm. Cytoplasm, cytoskeleton. Note=Colocalizes with actin stress fibers
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    nucleus2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031105septin complex IEA--

    Find genes that share ontologies with SEPT14           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEPT14
    Interactions:

        Search GeneGlobe Interaction Network for SEPT14

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for SEPT14 (Q6ZU151, 3 ENSP000003736274) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SEPT2Q150193, ENSP000003531574I2D: score=1 STRING: ENSP00000353157
    SEPT7Q161813, ENSP000003819924I2D: score=1 STRING: ENSP00000381992
    SEPT4O432363, ENSP000003216744I2D: score=1 STRING: ENSP00000321674
    SEPT1Q8WYJ63, ENSP000003245114I2D: score=1 STRING: ENSP00000324511
    SEPT9Q9UHD8-11, ENSP000003912494EBI-2009297,EBI-851558 STRING: ENSP00000391249
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    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 SEPT14           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 SEPT14 (SEP14)



    (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 SEPT14 gene: 
    NM_207366.2  

    Unigene Cluster for SEPT14:

    Septin 14
    Hs.453629  [show with all ESTs]
    Unigene Representative Sequence: NM_207366
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000388975(uc003tqz.2) ENST00000477628
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate SEPT14:
    hsa-miR-105
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SEPT14
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat SEPT14

    Additional mRNA sequence: 

    AK126048.1 AK301928.1 

    2 DOTS entries:

    DT.75101491  DT.75106882 

    16 AceView cDNA sequences:

    AI424090 AI422017 AL041480 AI337138 AL041479 AI422945 AI423645 BF594223 
    NM_207366 AI363249 AI423279 AI420795 AK126048 AI423113 AI359637 BF196657 

    GeneLoc Exon Structure


    (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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    SEPT14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAGTTTTA
    SEPT14 Expression
    About this image

    SEPT14 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEPT14 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.453629

    UniProtKB/Swiss-Prot: SEP14_HUMAN, Q6ZU15
    Tissue specificity: Testis-specific

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT14

    (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 and fungi.

    Orthologs for SEPT14 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sept141 , 5 septin 141, 5 78.87(n)1
    77.62(a)1
      5 (68.24 cM)5
    742221  NM_028826.11  NP_083102.11 
     1296833915 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sep26
    Sep56
    Sep5
    59(a)
    54(a)
    1 ↔ many
    1 ↔ many
    3R(16411851-16414085)
    2R(3847638-3849427)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-616
    Protein UNC-61, isoform a
    34(a)
    1 ↔ 1
    V(14731095-14734237) WBGene00006795
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC36
    Component of the septin ring that is required for ...
    31(a)
    1 → many
    XII(762575-764137) YLR314C


    ENSEMBL Gene Tree for SEPT14 (if available)
    TreeFam Gene Tree for SEPT14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEPT14 gene
    SEPT32  SEPT92  SEPT42  SEPT12  SEPT122  SEPT72  ENSG000002704662  SEPT62  
    SEPT112  SEPT22  SEPT102  SEPT82  SEPT52  
    16 SIMAP similar genes for SEPT14 using alignment to 1 protein entry:     SEP14_HUMAN:
    DKFZp547B243    SEPT11    SEPT10    SEPT8    SEPT6    DKFZp564M1416
    SEPT3    SEPT4    SEPT7    SEPT1    DKFZp686F17268    Nbla02942
    SEPT12    SEPT9    SEPT5    SEPT2

    Find genes that share paralogs with SEPT14           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for SEPT14 (see all 7)
    PGOHUM00000244383 PGOHUM00000259615 PGOHUM00000259886 PGOHUM00000259953 PGOHUM00000260225


    (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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    Selected SNPs for SEPT14 (see all 1554)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1474455141,2
    Cuntested155910751(+) GGAACA/GTTTAA 2 R C mis10--------
    rs1853595881,2
    --55860836(+) ACAATA/GTGAGA 1 -- ds50010--------
    rs1887449051,2
    --55860869(+) AGTAAA/CTCTCA 1 -- ds50010--------
    rs1456303091,2
    --55860888(+) GGATCC/TGGTTA 1 -- ds50010--------
    rs796130171,2
    C,F--55860931(+) GGAAGG/ACCAGT 1 -- ds50012Minor allele frequency- A:0.04NA EA 240
    rs1925259771,2
    --55861052(+) TTTTTA/TAAAAG 1 -- ds50010--------
    rs1848395331,2
    --55861070(+) ATCCAC/TTTATC 1 -- ds50010--------
    rs1893052341,2
    --55861246(+) TGTAAC/TTCCGC 1 -- ut310--------
    rs1382436821,2
    C--55861435(+) AATGTC/TATAAC 1 -- ut310--------
    rs1810050291,2
    --55861480(+) AAAACA/GAAATC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SEPT14 (55861237 - 55930482 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for SEPT14:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734449CNV Deletion23290073
    esv2734448CNV Deletion23290073
    dgv1201e199CNV Deletion23128226
    esv2734425CNV Deletion23290073
    esv2734447CNV Deletion23290073
    nsv888063CNV Gain21882294
    nsv888064CNV Gain21882294
    esv28230CNV Gain+Loss19812545
    nsv469612CNV Complex16826518
    nsv510959CNV Complex20534489

    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: 612140    OMIM disorders: --

    2 diseases for SEPT14:    
    About MalaCards
    gliosarcoma    giant cell glioblastoma


    Find genes that share disorders with SEPT14           About GenesLikeMe


    Export disorders for SEPT14 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 SEPT14 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SEPT14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin. (PubMed id 17922164)1, 2 Peterson E.A....Petty E.M. (Mamm. Genome 2007)
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 346288 HGNC: 33280 AceView: FLJ44060 Ensembl:ENSG00000154997 euGenes: HUgn346288
    ECgene: SEPT14 H-InvDB: SEPT14

    (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 SEPT14 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SEPT14 gene:
    Search GeneIP for patents involving SEPT14

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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