Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SEPT5 Gene

protein-coding   GIFtS: 56
GCID: GC22P019701

Septin 5

(Previous name: peanut-like 1 (Drosophila))
(Previous symbol: PNUTL1)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Septin 51 2     Cell Division Control Related Protein 12
PNUTL11 2 3 5     Peanut-Like 12
CDCREL2 5     Platelet Glycoprotein Ib Beta Chain2
Peanut-Like 1 (Drosophila)1     septin-52
CDCREL-12     CDCrel-13
CDCREL12     Cell Division Control-Related Protein 13
H52     Peanut-Like Protein 13
HCDCREL-12     

External Ids:    HGNC: 91641   Entrez Gene: 54132   Ensembl: ENSG000001847027   OMIM: 6027245   UniProtKB: Q997193   
ORGUL members:         
NONCODE14:n410468 n410467      

Export aliases for SEPT5 gene to outside databases

Previous GC identifers: GC22P018077 GC22P003322


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SEPT5 Gene:
This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as
cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear
to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large
multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and
velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in
patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence
of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the
downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are
produced. (provided by RefSeq, Dec 2010)

GeneCards Summary for SEPT5 Gene: 
SEPT5 (septin 5) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SEPT5 include velocardiofacial syndrome, and digeorge syndrome, and among its related super-pathways are Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway and Proteolysis Putative ubiquitin pathway. GO annotations related to this gene include structural molecule activity and GTP binding. An important paralog of this gene is SEPT3.

UniProtKB/Swiss-Prot: SEPT5_HUMAN, Q99719
Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May
play a role in platelet secretion (By similarity)

Gene Wiki entry for SEPT5 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011519.10  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEPT5 gene promoter:
         c-Fos   AP-1   JunB   Fra-1   FosB   CREB   JunD   HOXA5   deltaCREB   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SEPT5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEPT5


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.2

SEPT5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPT5 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P019701:  view genomic region     (about GC identifiers)

Start:
19,701,987 bp from pter      End:
19,712,295 bp from pter
Size:
10,309 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for SEPT5

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SEPT5_HUMAN, Q99719 (See protein sequence)
Recommended Name: Septin-5  
Size: 369 amino acids; 42777 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 SEPT2 and SEPT5. In platelets, associated with a complex containing STX4. Interacts
with PARK2. This interaction leads to SEPT5 ubiquitination and degradation (By similarity)
Subcellular location: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=In platelets, found
in areas surrounding alpha-granules
Miscellaneous: In a heterologous system, SEPT5 overexpression has been shown to exert dopamine-dependent
neurotoxicity. As wild-type PARK2, but not familial-linked PARK2 mutants, ubiquitinates mouse SEPT5 and promotes
its degradation, it has been sugested that a deficiency in SEPT5 degradation may contribute to the development of
early onset Parkinson disease 2 (PARK2)
Secondary accessions: O15251 Q96MY5
Alternative splicing: 2 isoforms:  Q99719-1   Q99719-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEPT5: NX_Q99719

Explore proteomics data for SEPT5 at MOPED 

Post-translational modifications:

  • UniProtKB: In platelets, phosphorylated in response to thrombin, phorbol-12-myristate-13-acetate and collagen
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99719

  • SEPT5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SEPT5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001009939.1  NP_002679.2  

    ENSEMBL proteins: 
     ENSP00000391311   ENSP00000384535   ENSP00000385356   ENSP00000408678   ENSP00000391731  
     ENSP00000414488   ENSP00000372515   ENSP00000394541   ENSP00000399685   ENSP00000378541  
     ENSP00000404673  

    Human Recombinant Protein Products for SEPT5: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SEPT5
    OriGene Protein Over-expression Lysate for SEPT5
    OriGene MassSpec for SEPT5 
    OriGene Custom Protein Services for SEPT5
    GenScript Custom Purified and Recombinant Proteins Services for SEPT5
    Novus Biologicals SEPT5 Proteins
    Novus Biologicals SEPT5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SEPT5
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA10321247
    GO:0005938cell cortex ----
    GO:0008021synaptic vesicle IDA10321247
    GO:0031105septin complex IEA--
    GO:0043195terminal bouton IEA--

    SEPT5 for ontologies           About GeneDecksing



    SEPT5 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SEPT5
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SEPT5
    GenScript Custom Superior Antibodies Services for SEPT5
    Novus Biologicals SEPT5 Antibodies
    Abcam antibodies for SEPT5
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for SEPT5
    LSBio Antibodies in human, mouse, rat for SEPT5 

    Assay Products for SEPT5: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SEPT5
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SEPT5
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


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

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

    Graphical View of Domain Structure for InterPro Entry Q99719

    ProtoNet protein and cluster: Q99719

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

    UniProtKB/Swiss-Prot: SEPT5_HUMAN, Q99719
    Similarity: Belongs to the septin family


    SEPT5 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SEPT5_HUMAN, Q99719
    Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May
    play a role in platelet secretion (By similarity)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS9385360
    GO:0005198structural molecule activity TAS9611266
    GO:0005515protein binding IPI10321247
    GO:0005525GTP binding IEA--
         
    SEPT5 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sept5):
     behavior/neurological  cardiovascular system  hematopoietic system  homeostasis/metabolism  nervous system 

    SEPT5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SEPT5: Sept5tm1Wtr Sept5tm1Bld

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SEPT5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SEPT5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEPT5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEPT5 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPT5
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate SEPT5:
    hsa-miR-1226 hsa-miR-4251 hsa-miR-580 hsa-miR-4273
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SEPT5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEPT5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SEPT5
    Sirion Biotech Customized adenovirus for overexpression of SEPT5

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SEPT5 (see all 7)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for SEPT5
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEPT5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPT5
    Sirion Biotech Customized lentivirus for stable overexpression of SEPT5 
                         Customized lentivirus expression plasmids for stable overexpression of SEPT5 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SEPT5
    Search LifeMap BioReagents cell lines for SEPT5
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT5


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SEPT5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    Parkin-Ubiquitin Proteasomal System pathway0.89
    2Proteolysis Putative ubiquitin pathway
    Proteolysis Putative ubiquitin pathway0.97
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.61
    4Parkinsons Disease Pathway
    Parkinsons Disease Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for SEPT5
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Putative ubiquitin pathway


    2 GeneGo (Thomson Reuters) Pathways for SEPT5
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Putative ubiquitin pathway

    2 BioSystems Pathways for SEPT5
        Parkin-Ubiquitin Proteasomal System pathway
    Parkinsons Disease Pathway


    1         Kegg Pathway  (Kegg details for SEPT5):
        Parkinson's disease


    SEPT5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SEPT5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/26 Interacting proteins for SEPT5 (Q997191, 2, 3 ENSP000003913114) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SEPT11Q9NVA21, 3, ENSP000002648934EBI-373345,EBI-957999 I2D: score=2 STRING: ENSP00000264893
    MAPK6Q166592, 3MINT-8261923 I2D: score=2 
    SEPT8Q925993, ENSP000003679914I2D: score=5 STRING: ENSP00000367991
    KAT7O952513, ENSP000002590214I2D: score=4 STRING: ENSP00000259021
    SEPT2Q150193, ENSP000003531574I2D: score=3 STRING: ENSP00000353157
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis TAS9611266
    GO:0006184GTP catabolic process TAS9385360
    GO:0007049cell cycle ----
    GO:0016080synaptic vesicle targeting TAS10321247
    GO:0017157regulation of exocytosis IMP10321247

    SEPT5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SEPT5

    Search CenterWatch for drugs/clinical trials and news about SEPT5

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SEPT5 gene (2 alternative transcripts): 
    NM_001009939.2  NM_002688.5  

    Unigene Clusters for SEPT5:

    Septin 5
    Hs.728762  [show with all ESTs], Hs.731401  [show with all ESTs]
    Unigene Representative Sequences: NR_037611, BM808614
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000455784 ENST00000406395 ENST00000406172 ENST00000412544 ENST00000455843(uc002zpw.1 uc002zpx.1)
    ENST00000431124 ENST00000490204 ENST00000383045 ENST00000438754 ENST00000431044(uc002zpv.2 uc002zpz.2)
    ENST00000395109 ENST00000477238 ENST00000413258 ENST00000480423 ENST00000470814

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPT5
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate SEPT5:
    hsa-miR-1226 hsa-miR-4251 hsa-miR-580 hsa-miR-4273
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SEPT5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEPT5
    Clone
    Products:
         
    OriGene clones in human, mouse for SEPT5 (see all 7)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for SEPT5
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEPT5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPT5
    Sirion Biotech Customized lentivirus for stable overexpression of SEPT5 
                         Customized lentivirus expression plasmids for stable overexpression of SEPT5 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SEPT5
    OriGene qSTAR qPCR primer pairs in human, mouse for SEPT5
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SEPT5
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEPT5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEPT5

    Additional mRNA sequence: AF061154.1 

    24/41 DOTS entries (see all 41):

    DT.217803  DT.97810866  DT.100885289  DT.100885325  DT.100885296  DT.100885290  DT.100885312  DT.100885313 
    DT.100769098  DT.100885283  DT.100885291  DT.100885318  DT.100698231  DT.120643986  DT.91873438  DT.95183837 
    DT.95363722  DT.100664732  DT.100885282  DT.100885294  DT.100885305  DT.100885322  DT.120643994  DT.97797509 

    24/453 AceView cDNA sequences (see all 453):

    AI824899 BM929859 BX449344 AI278428 U74628 T16198 J03259 CB117978 
    CB146068 CR609437 BI912793 CA396800 AU143666 BX432432 BX407031 BI793146 
    BX440450 BM931912 CA865969 BX428268 BX428480 BM052930 BC024304 BE222989 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SEPT5 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ·
    SP1:                                      -     -                                                                 -                                             
    SP2:                                -     -     -                                                                 -                                             
    SP3:                                      -     -                                                                 -           -                                 
    SP4:        -     -     -     -     -     -     -                                                                 -                                             
    SP5:              -     -     -     -     -     -                                                                                                               

    ExUns: 13c ^ 14a · 14b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for SEPT5

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SEPT5 expression in normal human tissues (normalized intensities)      SEPT5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SEPT5 Expression
    About this image


    SEPT5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Thalamus
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             colon ; peripheral nerve/ganglion   
             spinal/ganglion/dorsal root ganglion   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Granulocytes Peripheral Blood
             mouse/organ system/cardiovascular system   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
             sensory organ/ear/inner ear   

    See SEPT5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEPT5

    SOURCE GeneReport for Unigene clusters: Hs.728762 Hs.731401

    UniProtKB/Swiss-Prot: SEPT5_HUMAN, Q99719
    Tissue specificity: Expressed at high levels in the CNS, as well as in heart and platelets (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Array including SEPT5: 
              Parkinson's Disease in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SEPT5
    OriGene qSTAR qPCR primer pairs in human, mouse for SEPT5
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SEPT5
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEPT5
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEPT5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT5

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SEPT5 gene from 5/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sept51 , 5 septin 51, 5 89.52(n)1
    98.92(a)1
      16 (11.53 cM)5
    189511  NM_213614.21  NP_998779.21 
     186218115 
    chicken
    (Gallus gallus)
    Aves SEP-056
    septin-5
    93(a)
    1 ↔ 1
    15(762964-772314)
    lizard
    (Anolis carolinensis)
    Reptilia SEPT56
    septin 5
    74(a)
    1 ↔ 1
    GL343282.1(1592151-1629022)
    zebrafish
    (Danio rerio)
    Actinopterygii BC059564.12   -- 78.79(n)   335925  BC059564.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sep46
    Septin 4
    51(a)
    1 → many
    X(16578244-16589206)


    ENSEMBL Gene Tree for SEPT5 (if available)
    TreeFam Gene Tree for SEPT5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SEPT5 gene
    SEPT32  SEPT92  SEPT142  SEPT42  SEPT12  SEPT122  SEPT72  ENSG000002704662  
    SEPT62  SEPT112  SEPT22  SEPT102  SEPT82  
    17 SIMAP similar genes for SEPT5 using alignment to 10 protein entries:     SEPT5_HUMAN (see all proteins):
    SEPT4    SEPT2    SEPT1    Nbla02942    DKFZp686F17268    SEPT7
    SEPT9    MAFK    SEPT3    SEPT12    DKFZp564M1416    SEPT8
    SEPT10    DKFZp547B243    SEPT14    SEPT11    SEPT6

    SEPT5 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/51 SNPs in SEPT5 are shown (see all 51)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs96061471,2
    C--3641714(+) CTTGTC/TTCAAG 1 -- int11Minor allele frequency- T:0.00NA 2
    rs733779351,2
    C,F--19700058(+) GCAGGG/TCTCCT 1 -- us2k13Minor allele frequency- T:0.23WA 122
    rs1135726501,2
    C,F--19700196(+) AGTGCC/TCCTAC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs119128771,2
    H--19700244(+) tttttA/Ttgaga 1 -- us2k1 trp30--------
    rs1893377971,2
    --19700331(+) GAGTTC/TAAGTG 1 -- us2k10--------
    rs1139527481,2
    C,F--19700378(+) CAGGCG/ATGTGC 1 -- us2k12Minor allele frequency- A:0.50WA CSA 4
    rs759810601,2
    C--19700407(+) TTTTGG/TATTTT 1 -- us2k10--------
    rs1117054511,2
    C,F--19700415(+) TTTTAG/ATAGAC 1 -- us2k12Minor allele frequency- A:0.50WA CSA 4
    rs1439014601,2
    --19700420(+) ATAGAC/TGGGGT 1 -- us2k10--------
    rs1407630871,2
    C--19700604(+) AATAC-/ATATGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SEPT5 (19701987 - 19712295 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for SEPT5 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    nsv828943CNV Loss20364138
    nsv914279CNV Loss21882294
    nsv517478CNV Loss19592680
    dgv4842n71CNV Loss21882294
    dgv4841n71CNV Loss21882294
    nsv914288CNV Loss21882294
    nsv914283CNV Loss21882294
    nsv834129CNV Loss17160897
    nsv914280CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SEPT5
    DNA2.0 Custom Variant and Variant Library Synthesis for SEPT5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602724    OMIM disorders: --

    10 diseases for SEPT5:    About MalaCards
    velocardiofacial syndrome    digeorge syndrome    acute myeloid leukemia    myeloid leukemia
    leukemia    down syndrome    parkinson's disease    retinitis
    endotheliitis    neuronitis


    SEPT5 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for SEPT5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    velo-cardio-facial syndrome 71.7 2 10940632 (1)
    digeorge syndrome 60.2 2 10940632 (1)
    leukemia 0 2 16767699 (1)
    tumors 0 4 16179808 (2), 20136629 (1), 11167005 (1)


    Export disorders for SEPT5 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)
    About This Section

    PubMed articles for SEPT5 gene, integrated from 9 sources (see all 63):
    (articles sorted by number of sources associating them with SEPT5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and expression of the human septin gene HCDCREL-1. (PubMed id 9611266)1, 2, 3 Yagi M.... Ware J. (1998)
    2. A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. (PubMed id 9385360)1, 2, 3 McKie J.... Scambler P.J. (1997)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    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. (2004)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    6. Dopamine-dependent neurodegeneration in rats induced by viral vector-mediated overexpression of the parkin target protein, CDCrel-1. (PubMed id 14530399)1, 2 Dong Z....Bueler H. (2003)
    7. Human septin-septin interaction: CDCrel-1 partners with KIAA0202. (PubMed id 12023038)1, 2 Blaeser S.... Zieger B. (2002)
    8. A prototypic platelet septin and its participation in secretion. (PubMed id 11880646)1, 2 Dent J.... Ware J. (2002)
    9. Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence. (PubMed id 9022087)1, 2 Zieger B.... Ware J. (1997)
    10. Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5. (PubMed id 16767699)1, 9 Blaser S....Zieger B. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 5413 HGNC: 9164 AceView: GP1BBandPNUTL1 Ensembl:ENSG00000184702 euGenes: HUgn5413
    ECgene: SEPT5 Kegg: 5413 H-InvDB: SEPT5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SEPT5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SEPT5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SEPT5 gene:
    Search GeneIP for patents involving SEPT5

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of SEPT5
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SEPT5  
     OriGene qPCR primer pairs and template standards for SEPT5   OriGene Protein Over-expression Lysate for SEPT5  
     OriGene MassSpec something-or-other for SEPT5   OriGene clones in human, mouse for SEPT5  
     OriGene qSTAR qPCR primer pairs in human, mouse for SEPT5   OriGene Purified Protein for SEPT5  
     Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SEPT5   OriGene Custom Protein Services for SEPT5  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SEPT5
     QIAGEN SeqTarget long-range PCR primers for resequencing SEPT5
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEPT5
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEPT5
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEPT5
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEPT5
     GenScript Custom Purified and Recombinant Proteins Services for SEPT5 GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for SEPT5
     GenScript Custom Assay Services for SEPT5 GenScript Custom Superior Antibodies Services for SEPT5
     GenScript Custom overexpressing Cell Line Services for SEPT5 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SEPT5 promoter
     Search Chromatin IP Primers for SEPT5
     RT2 qPCR Primer Assay in human, mouse, rat SEPT5
     GNC Network for SEPT5
     SABiosciences PCR Arrays including human, mouse, rat SEPT5
     Search Tocris compounds for SEPT5
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SEPT5 antibodies
     SEPT5 proteins
     SEPT5 lysates
     Antibodies for SEPT5
     See all of Abcam's Antibodies, Kits and Proteins for SEPT5
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for SEPT5




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for SEPT5
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT5
     Browse SwitchGear 3'UTR luciferase reporter plasmids for SEPT5
     Browse SwitchGear Promoter luciferase reporter plasmids for SEPT5
     ThermoFisher Antibodies for SEPT5
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPT5
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SEPT5
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SEPT5
    Customized:
     lentivirus for stable overexpression of SEPT5
     lentivirus expression plasmids for stable overexpression of SEPT5
     adenovirus for overexpression of SEPT5
     LSBio Antibodies in human, mouse, rat for SEPT5
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SEPT5 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4