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

SEPT5 Gene

protein-coding   GIFtS: 52
GCID: GC22P019701

septin 5

(Previous name: peanut-like 1 (Drosophila) )
(Previous symbol: PNUTL1)
  Search for SEPT5
in
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 Human Malady Compendium 
Biological research products
for SEPT5    

Aliases
for SEPT5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
H51 2     Platelet Glycoprotein Ib Beta Chain2
HCDCREL-11 2     Septin-51
CDCREL2 5     CDCrel-13
Peanut-Like 1 (Drosophila)1     Cell Division Control-Related Protein 13
CDCREL-12     Peanut-Like Protein 13
CDCREL12     

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

Export aliases for SEPT5 gene to outside databases

Previous GC identifers: GC22P018077 GC22P003322


Summaries
for SEPT5 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011519.10  
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:
 19,712,297 bp from pter
Size:
 10,311 bases      Orientation:
 plus strand
ORGUL member locations:
Legend (see complete legend)

  • n410467
  • n410468
19704742 19708520 19712297 chr22

Proteins
for SEPT5 gene

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

Post-translational modifications:

  • In platelets, phosphorylated in response to thrombin, phorbol-12-myristate-13-acetate and collagen1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99719

    • SEPT5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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

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    ProSpec Recombinant Protein for SEPT5
    Browse Proteins at Uscn

    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:0019717synaptosome ----
    GO:0031105septin complex IEA--


    SEPT5 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SEPT5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SEPT5 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000038 Cell_div_GTP-bd
     IPR016491 Septin

    Graphical View of Domain Structure for InterPro Entry Q99719

    ProtoNet protein and cluster: Q99719

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

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


    Function
    for SEPT5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

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    In Situ Assay
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    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 IPI16767699
    GO:0005525GTP binding IEA--


    SEPT5 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SEPT5: Sept5tm1Wtr Sept5tm1Bld
         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


    Pathways & Interactions
    for SEPT5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    		Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway1.00
    		Parkin-Ubiquitin Proteasomal System pathway0.93
    		Proteolysis_Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    2Proteolysis Putative ubiquitin pathway
    		Proteolysis Putative ubiquitin pathway1.00
    		Proteolysis_Putative ubiquitin pathway0.97
    3Parkinsons Disease Pathway
    		Parkinsons Disease Pathway1.00
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		Parkinson's disease0.61

    Pathway sources
    See GeneCards unified pathways
    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 
        Parkinsons Disease Pathway
    Parkin-Ubiquitin Proteasomal System 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 IEA--
    GO:0016080synaptic vesicle targeting TAS10321247
    GO:0017157regulation of exocytosis IMP10321247


    SEPT5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SEPT5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for SEPT5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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


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    hsa-miR-1226 hsa-miR-4251 hsa-miR-580 hsa-miR-4273
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    Clone
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    Additional cDNA 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):

    CA946742 BI964171 AA323313 CR608884 BU607700 R20344 H09096 BX410850 
    BX280154 CR603626 BG819412 H46034 BG698192 CR598470 BP349746 AW027241 
    BX445149 BP346614 BX410920 BX371082 M79110 CA411614 AI197816 F03453 

    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

    Expression
    for SEPT5 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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

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    In Situ
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    Orthologs
    for SEPT5 gene

    (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 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves F1NV39_CHICK6
    		 septin 5
    		 85(a)
    		 1 ↔ 1
    		 15(775010-787712)
    lizard
    (Anolis carolinensis)    		 Reptilia SEPT56
    		 --
    		 92(a)
    		 1 ↔ 1
    		 GL343282.1(1621563-1629022)
    zebrafish
    (Danio rerio)    		 Actinopterygii BC059564.12   -- 78.79(n)   335925  BC059564.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Sep46
    		 Septin 4
    		 50(a)
    		 1 → many
    		 X(16578244-16589206)
    worm
    (Caenorhabditis elegans)    		 Secernentea unc-596
    		 UNCoordinated family member (unc-59)
    		 32(a)
    		 possible ortholog
    		 I(13629214-13633485)


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

    Paralogs
    for SEPT5 gene

    (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  SEPT72  SEPT122  SEPT62  
    SEPT7L2  SEPT112  SEPT22  SEPT102  SEPT82  
    18 SIMAP similar genes for SEPT5 using alignment to 10 protein entries:     SEPT5_HUMAN (see all proteins):
    SEPT4    SEPT2    SEPT1    Nbla02942    DKFZp686F17268    SEPT7
    SEPT7L    SEPT9    MAFK    SEPT3    SEPT12    DKFZp564M1416
    SEPT8    SEPT10    DKFZp547B243    SEPT14    SEPT11    SEPT6

    SEPT5 for paralogs           About GeneDecksing



    Genomic Variants
    for SEPT5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/133 NCBI SNPs in SEPT5 are shown (see all 133)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs733779351,2
    		C,F,--19700058(+) GCAGGG/TCTCCT 1 -- us2k13Minor allele frequency- T:0.23WA 122
    rs1135726501,2
    		--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--------
    rs1816365571,2
    		--19700609(+) ATATGC/TTTTGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SEPT5 (19701987 - 19712297 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SEPT5
         3 CNVs: 73717 8901 31071

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SEPT5 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SEPT5 for disorders           About MalaCards

    SEPT5 for disorders           About GeneDecksing

    OMIM gene information: 602724    OMIM disorders: --

    4 Novoseek 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

    Publications
    for SEPT5 gene

    (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)

    External Searches for SEPT5 gene

    (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)

    Genome Databases showing SEPT5 gene

    (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

    Other Databases showing SEPT5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SEPT5 gene

    (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

    Intellectual Property
    for SEPT5 gene

    (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



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    About This Section

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