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

SEPT1 Gene

protein-coding   GIFtS: 52
GCID: GC16M030389

septin 1


(Previous symbol: DIFF6)
  Search for SEPT1
in our new
 Human Malady Compendium 
Biological research products
for SEPT1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Septin 11 2     LARP2 3
DIFF61 2 3 5     SEP12
PNUTL31 2 3     Differentiation 6 (Deoxyguanosine Triphosphate Triphosphohydrolase)2
Peanut-Like Protein 32 3     Septin-11
Serologically Defined Breast Cancer Antigen NY-BR-242 3     

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

Export aliases for SEPT1 gene to outside databases

Previous GC identifers: GC16M029672 GC16M030783 GC16M030386 GC16M030425 GC16M030296 GC16M027951


(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 SEPT1:
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)

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


(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_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SEPT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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
Subcellular location: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cytoskeleton,
centrosome. Note=Remains at the centrosomes and the nearby microtubules throughout mitosis. Localizes to the midbody
during cytokinesis
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WYJ6

  • SEPT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    SEPT1 for ontologies           About GeneDecksing



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

    SEPT1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q8WYJ6

    ProtoNet protein and cluster: Q8WYJ6

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

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


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

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005525GTP binding IEA--


    SEPT1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SEPT1:
     Synthetic lethal with Ras 


    (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
    1Aurora B signaling
    Aurora B signaling1.00
    2Bacterial invasion of epithelial cells
    Bacterial invasion of epithelial cells1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for SEPT1 
        Aurora B signaling


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


    SEPT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SEPT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/22 Interacting proteins for SEPT1 (Q8WYJ61, 2, 3 ENSP000003245114) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    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 (GO ID links to tree view):    About this table

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


    SEPT1 for ontologies           About GeneDecksing



    (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 SEPT1
    Search CenterWatch for drugs/clinical trials and news about SEPT1 

    (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,
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    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 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

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    hsa-miR-542-5p hsa-miR-25*
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    Additional cDNA 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 

    24/107 AceView cDNA sequences (see all 107):

    CR606716 NM_052838 AW662895 CR615337 BC012161 AL582957 CR622773 AW407122 
    CR604490 BQ061356 AW575936 BM998175 CR590264 CR610165 CR594519 BG106737 
    BQ574413 AI379541 CR603276 BG753458 BX349321 BQ006456 BI910655 BV204662 

    GeneLoc Exon Structure

    5/12 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™, 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

    SEPT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAAGAGATGC

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

    About this image
    See SEPT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEPT1

    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SEPT1 gene from 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia SEPT16
    --
    73(a)
    1 ↔ 1
    GL343516.1(284201-289350)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01061914.26
    zgc:1622396
    zgc:162239
    47(a)
    37(a)
    possible ortholog
    possible ortholog
    19(12015392-12049272)
    21(39435295-39447895)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG96993 cytokinesis 48(a)   15A1   --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-596
    UNCoordinated family member (unc-59)
    30(a)
    possible ortholog
    I(13629214-13633485)


    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)
    About This Section
    Paralogs for SEPT1 gene
    SEPT32  SEPT92  SEPT142  SEPT42  SEPT72  SEPT122  SEPT62  SEPT7L2  
    SEPT112  SEPT22  SEPT102  SEPT82  SEPT52  
    17 SIMAP similar genes for SEPT1 using alignment to 5 protein entries:     SEPT1_HUMAN (see all proteins):
    SEPT4    SEPT2    SEPT5    SEPT9    MAFK    SEPT7
    Nbla02942    SEPT12    DKFZp686F17268    SEPT7L    SEPT3    SEPT11
    SEPT14    SEPT10    SEPT8    DKFZp547B243    SEPT6

    SEPT1 for paralogs           About GeneDecksing



    (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

    10/114 NCBI SNPs in SEPT1 are shown (see all 114    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2016169861,2
    --30389068(+) CTGGGA/GCCGGG 4 -- us2k1 ds5001 int10--------
    rs2010693961,2
    --30389070(+) GGGGCC/TGGGGA 4 -- int1 ds5001 us2k10--------
    rs1175635181,2
    C,F,--30389108(+) ACGTCT/CTTCCC 4 -- us2k1 ds5001 int11Minor allele frequency- C:0.02EA 120
    rs1427494021,2
    C,--30389113(+) TTTCCC/TCAGAT 4 -- ds5001 us2k1 int10--------
    rs1511186341,2
    --30389459(+) CGTGGC/TCGCGG 4 -- us2k1 ut31 int10--------
    rs11322961,2
    C--30389623(-) AGGTTC/TTCCCA 4 -- int1 us2k1 ut31 ese32Minor allele frequency- T:0.00NA 4
    rs1410918811,2
    C,--30389743(+) CCGGGC/AGGGGC 4 -- ut31 int11Minor allele frequency- A:0.01EU 209
    rs1998035021,2
    C,--30389757(+) GCCTCA/TGAGGG 5 R * int1 stop-lost0--------
    rs2003168041,2
    --30389792(+) GGCTCC/TGCTGC 5 Q R int1 mis10--------
    rs2021680591,2
    --30389876(+) CTGGCA/GAAGCC 3 -- int10--------

    HapMap Linkage Disequilibrium report for SEPT1 (30389454 - 30407312 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SEPT1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SEPT1
    DNA2.0 Custom Variant and Variant Library Synthesis for SEPT1

    (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.)
    About This Section

    SEPT1 for disorders           About MalaCards

    SEPT1 for disorders           About GeneDecksing

    OMIM gene information: 612897    OMIM disorders: --


    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)
    About This Section

    PubMed articles for SEPT1 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with SEPT1)
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    1. Septin1, a new interaction partner for human serine/threonine kinase aurora-B. (PubMed id 16179162)1, 2 Qi M.... Yu L. (2005)
    2. Expression profiling the human septin gene family. (PubMed id 15915442)1, 2 Hall P.A....Russell S.E. (2005)
    3. 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)
    4. 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. (2001)
    5. Identification of septins in neurofibrillary tangles in Alzheimer's disease. (PubMed id 9811347)1, 9 Kinoshita A....Kimura J. (1998)
    6. Possible role of a septin, SEPT1, in spreading in squa mous cell carcinoma DJM-1 cells. (PubMed id 23087102)1 Mizutani Y....Nagata K. (2013)
    7. A cohesin-RAD21 interactome. (PubMed id 22145905)1 Panigrahi A.K....Pati D. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Septin genomics: a road less travelled. (PubMed id 21809895)1 Russell S.E. and Hall P.A. (2011)

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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, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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,
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    Patent Information for SEPT1 gene:
    Search GeneIP for patents involving SEPT1

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