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    SEPT9 septin 9 [ Homo sapiens (human) ]

    Gene ID: 10801, updated on 6-Aug-2017
    Official Symbol
    SEPT9provided by HGNC
    Official Full Name
    septin 9provided by HGNC
    Primary source
    HGNC:HGNC:7323
    See related
    Ensembl:ENSG00000184640 MIM:604061; Vega:OTTHUMG00000177327
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MSF; MSF1; NAPB; SINT1; PNUTL4; SeptD1; AF17q25
    Summary
    This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
    Orthologs
    Location:
    17q25.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (77281410..77500596)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (75277492..75496678)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SEC14 like lipid binding 1 Neighboring gene cytochrome c, somatic pseudogene 40 Neighboring gene uncharacterized LOC105371907 Neighboring gene lung adenocarcinoma-associated transcript 1 Neighboring gene microRNA 4316 Neighboring gene uncharacterized LOC105371903 Neighboring gene uncharacterized LOC400622 Neighboring gene uncharacterized LOC100507351

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Amyotrophy, hereditary neuralgic Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of behavioral disinhibition.
    NHGRI GWA Catalog
    Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
    NHGRI GWA Catalog
    Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat FITC-labeled Tat 47-59 peptide upregulates gene expression of septin 9 (SEPT9) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
      Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
      Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ75490, KIAA0991

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein heterooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    non-motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    septin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    septin-9
    Names
    MLL septin-like fusion protein MSF-A
    Ov/Br septin
    ovarian/breast septin
    septin D1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011683.1 RefSeqGene

      Range
      43106..224187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001113491.1NP_001106963.1  septin-9 isoform a

      See identical proteins and their annotated locations for NP_001106963.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as epsilon) encodes the longest isoform (a).
      Source sequence(s)
      AA523782, AF189713, BC064642, BQ279153, DB007851, DC307336
      Consensus CDS
      CCDS45790.1
      UniProtKB/Swiss-Prot
      Q9UHD8
      Related
      ENSP00000391249.1, OTTHUMP00000256373, ENST00000427177.5, OTTHUMT00000436304
      Conserved Domains (2) summary
      cd01850
      Location:295569
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:277583
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    2. NM_001113492.1NP_001106964.1  septin-9 isoform e

      See identical proteins and their annotated locations for NP_001106964.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as zeta or v4*) lacks the first 5' exon, but has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (e) has a shorter N-terminus, as compared to isoform a.
      Source sequence(s)
      AA523782, AK290368, BC064642, BQ279153, DB007851
      Consensus CDS
      CCDS45793.1
      UniProtKB/Swiss-Prot
      Q9UHD8
      Related
      ENSP00000400181.2, ENST00000449803.6
      Conserved Domains (2) summary
      cd01850
      Location:131405
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:113419
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    3. NM_001113493.1NP_001106965.1  septin-9 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as gamma) lacks two 5' exons but has an alternate 5' exon, as compared to variant 1. The resulting isoform (b) has a shorter and different N-terminus, as compared to isoform a.
      Source sequence(s)
      AA523782, AJ312319, BC064642, BQ279153, DB007851
      Consensus CDS
      CCDS45792.1
      UniProtKB/Swiss-Prot
      Q9UHD8
      Related
      ENSP00000405877.1, OTTHUMP00000256395, ENST00000423034.6, OTTHUMT00000436351
      Conserved Domains (2) summary
      cd01850
      Location:288562
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:270576
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    4. NM_001113494.1NP_001106966.1  septin-9 isoform e

      See identical proteins and their annotated locations for NP_001106966.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6, also known as beta or v4) lacks two 5' exons but has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (e) has a shorter N-terminus,as compared to isoform a.
      Source sequence(s)
      AA523782, AB023208, BC064642, BQ279153, DA234895, DB007851
      Consensus CDS
      CCDS45793.1
      UniProtKB/Swiss-Prot
      Q9UHD8
      Related
      ENSP00000403194.1, OTTHUMP00000256396, ENST00000427674.6, OTTHUMT00000436352
      Conserved Domains (2) summary
      cd01850
      Location:131405
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:113419
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    5. NM_001113495.1NP_001106967.1  septin-9 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks three 5' exons but has an alternate 5' exon, as compared to variant 1. The resulting isoform (d) has a shorter and different N-terminus, as compared to isoform a.
      Source sequence(s)
      AA523782, AK056495, BC064642, BQ279153, DB007851
      Consensus CDS
      CCDS45794.1
      UniProtKB/Swiss-Prot
      Q9UHD8
      Related
      ENSP00000415624.1, OTTHUMP00000256401, ENST00000427180.5, OTTHUMT00000436361
      Conserved Domains (2) summary
      cd01850
      Location:183457
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:165471
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    6. NM_001113496.1NP_001106968.1  septin-9 isoform f

      See identical proteins and their annotated locations for NP_001106968.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7, also known as delta) lacks three 5' exons, but has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (f) has a much shorter N-terminus, as compared to isoform a.
      Source sequence(s)
      AA523782, AJ312320, BC064642, BQ279153, DB007851, DB148645
      Consensus CDS
      CCDS45795.1
      UniProtKB/Swiss-Prot
      Q9UHD8
      Related
      ENSP00000438089.2, OTTHUMP00000256398, ENST00000541152.6, OTTHUMT00000436358
      Conserved Domains (2) summary
      cd01850
      Location:44318
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:26332
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    7. NM_001293695.1NP_001280624.1  septin-9 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (g) lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AA523782, AK300270, AL080131, BC021192, DB007851, DC307336
      Consensus CDS
      CCDS77122.1
      UniProtKB/Swiss-Prot
      Q9UHD8
      Related
      ENSP00000468406.1, OTTHUMP00000256392, ENST00000591198.5, OTTHUMT00000436345
      Conserved Domains (2) summary
      cd01850
      Location:276550
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:258564
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    8. NM_001293696.1NP_001280625.1  septin-9 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks three 5' exons, but has an alternate 5' exon, as compared to variant 1. The resulting isoform (h) has a distinct and shorter N-terminus, as compared to isoform a.
      Source sequence(s)
      AA523782, AK303449, AL080131, BC021192, DB007851, DC410238
      Consensus CDS
      CCDS74166.1
      UniProtKB/Swiss-Prot
      Q9UHD8
      Related
      ENSP00000468120.1, OTTHUMP00000256397, ENST00000585930.5, OTTHUMT00000436354
      Conserved Domains (2) summary
      cd01850
      Location:71345
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:53359
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    9. NM_001293697.1NP_001280626.1  septin-9 isoform f

      See identical proteins and their annotated locations for NP_001280626.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks three 5' exons, but has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (f) has a much shorter N-terminus, as compared to isoform a. Variants 7, 10 and 11 encode the same isoform f.
      Source sequence(s)
      AA523782, AK299828, AL080131, BC021192, CN393537, DB007851
      Consensus CDS
      CCDS45795.1
      UniProtKB/Swiss-Prot
      Q9UHD8
      Related
      ENSP00000466247.1, OTTHUMP00000256399, ENST00000591088.5, OTTHUMT00000436359
      Conserved Domains (2) summary
      cd01850
      Location:44318
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:26332
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    10. NM_001293698.1NP_001280627.1  septin-9 isoform f

      See identical proteins and their annotated locations for NP_001280627.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks three 5' exons, but has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (f) has a much shorter N-terminus, as compared to isoform a.
      Source sequence(s)
      AA523782, AK316473, AL080131, BC021192, DB007851
      Consensus CDS
      CCDS45795.1
      UniProtKB/Swiss-Prot
      Q9UHD8
      Related
      ENSP00000466648.1, OTTHUMP00000256400, ENST00000592951.5, OTTHUMT00000436360
      Conserved Domains (2) summary
      cd01850
      Location:44318
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:26332
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    11. NM_006640.4NP_006631.2  septin-9 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as alpha) lacks two 5' exons but has an alternate 5' exon, as compared to variant 1. The resulting isoform (c) has a shorter and different N-terminus, as compared to isoform a.
      Source sequence(s)
      AA523782, AJ312321, BC021192, BC064642, BQ279153, DB007851
      Consensus CDS
      CCDS45791.1
      UniProtKB/Swiss-Prot
      Q9UHD8
      UniProtKB/TrEMBL
      A0A0S2Z5A5
      Related
      ENSP00000329161.8, ENST00000329047.12
      Conserved Domains (2) summary
      cd01850
      Location:277551
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:259565
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      77281410..77500596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721643.2XP_006721706.1  septin-9 isoform X3

      See identical proteins and their annotated locations for XP_006721706.1

      UniProtKB/Swiss-Prot
      Q9UHD8
      Conserved Domains (2) summary
      cd01850
      Location:131405
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:113419
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    2. XM_011524204.1XP_011522506.1  septin-9 isoform X1

      Conserved Domains (2) summary
      cd01850
      Location:326600
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:308614
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    3. XM_011524206.1XP_011522508.1  septin-9 isoform X2

      Conserved Domains (2) summary
      cd01850
      Location:280554
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:262568
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    4. XM_011524207.1XP_011522509.1  septin-9 isoform X3

      See identical proteins and their annotated locations for XP_011522509.1

      UniProtKB/Swiss-Prot
      Q9UHD8
      Related
      ENSP00000468668.1, OTTHUMP00000257513, ENST00000588690.5, OTTHUMT00000438641
      Conserved Domains (2) summary
      cd01850
      Location:131405
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:113419
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    5. XM_017024031.1XP_016879520.1  septin-9 isoform X4

      UniProtKB/Swiss-Prot
      Q9UHD8
      Conserved Domains (2) summary
      cd01850
      Location:44318
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:26332
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    6. XM_011524208.2XP_011522510.1  septin-9 isoform X4

      See identical proteins and their annotated locations for XP_011522510.1

      UniProtKB/Swiss-Prot
      Q9UHD8
      Conserved Domains (2) summary
      cd01850
      Location:44318
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:26332
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    7. XM_006721644.1XP_006721707.1  septin-9 isoform X4

      See identical proteins and their annotated locations for XP_006721707.1

      UniProtKB/Swiss-Prot
      Q9UHD8
      Conserved Domains (2) summary
      cd01850
      Location:44318
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:26332
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    8. XM_017024032.1XP_016879521.1  septin-9 isoform X4

      UniProtKB/Swiss-Prot
      Q9UHD8
      Conserved Domains (2) summary
      cd01850
      Location:44318
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:26332
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    9. XM_005256962.1XP_005257019.1  septin-9 isoform X4

      See identical proteins and their annotated locations for XP_005257019.1

      UniProtKB/Swiss-Prot
      Q9UHD8
      Conserved Domains (2) summary
      cd01850
      Location:44318
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:26332
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NW_003315955.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      78784..79107
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      75342249..75561442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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