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Q9UHD8

- SEPT9_HUMAN

UniProt

Q9UHD8 - SEPT9_HUMAN

Protein

Septin-9

Gene

SEPT9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 2 (18 Apr 2006)
      Previous versions | rss
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    Functioni

    Filament-forming cytoskeletal GTPase By similarity. May play a role in cytokinesis Potential. May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.By similarityCurated

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei339 – 3391GTPBy similarity
    Binding sitei365 – 3651GTP; via amide nitrogenBy similarity
    Binding sitei501 – 5011GTP; via amide nitrogen and carbonyl oxygenBy similarity
    Binding sitei516 – 5161GTPBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi305 – 3128GTPBy similarity
    Nucleotide bindingi445 – 4539GTPBy similarity

    GO - Molecular functioni

    1. GTPase activity Source: ProtInc
    2. GTP binding Source: UniProtKB-KW
    3. protein binding Source: IntAct

    GO - Biological processi

    1. cell cycle Source: UniProtKB-KW
    2. cell division Source: UniProtKB-KW
    3. GTP catabolic process Source: GOC
    4. protein heterooligomerization Source: UniProtKB

    Keywords - Biological processi

    Cell cycle, Cell division

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Septin-9
    Alternative name(s):
    MLL septin-like fusion protein MSF-A
    Short name:
    MLL septin-like fusion protein
    Ovarian/Breast septin
    Short name:
    Ov/Br septin
    Septin D1
    Gene namesi
    Name:SEPT9
    Synonyms:KIAA0991, MSF
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:7323. SEPT9.

    Subcellular locationi

    Cytoplasmcytoskeleton 2 Publications
    Note: In an epithelial cell line, concentrates at cell-cell contact areas. After TGF-beta1 treatment and induction of epithelial to mesenchymal transition, colocalizes partly with actin stress fibers. During bacterial infection, displays a collar shape structure next to actin at the pole of invading bacteria.

    GO - Cellular componenti

    1. actin cytoskeleton Source: HPA
    2. cytoplasm Source: ProtInc
    3. microtubule Source: UniProtKB
    4. perinuclear region of cytoplasm Source: UniProtKB
    5. stress fiber Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving SEPT9/MSF is found in therapy-related acute myeloid leukemia (t-AML). Translocation t(11;17)(q23;q25) with KMT2A/MLL1.1 Publication
    Hereditary neuralgic amyotrophy (HNA) [MIM:162100]: Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti106 – 1061R → W in HNA. 4 Publications
    VAR_033101
    Natural varianti111 – 1111S → F in HNA. 3 Publications
    VAR_033102

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi162100. phenotype.
    Orphaneti2901. Neuralgic amyotrophy.
    PharmGKBiPA31132.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 586586Septin-9PRO_0000173535Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei30 – 301Phosphoserine6 Publications
    Modified residuei38 – 381Phosphothreonine1 Publication
    Modified residuei42 – 421Phosphothreonine2 Publications
    Modified residuei62 – 621N6-acetyllysineBy similarity
    Modified residuei82 – 821Phosphoserine1 Publication
    Modified residuei85 – 851Phosphoserine3 Publications
    Modified residuei96 – 961Phosphoserine1 Publication
    Modified residuei142 – 1421Phosphothreonine1 Publication
    Modified residuei278 – 2781Phosphotyrosine1 Publication
    Modified residuei327 – 3271Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ9UHD8.
    PaxDbiQ9UHD8.
    PRIDEiQ9UHD8.

    PTM databases

    PhosphoSiteiQ9UHD8.

    Expressioni

    Tissue specificityi

    Widely expressed. Isoforms are differentially expressed in testes, kidney, liver heart, spleen, brain, peripheral blood leukocytes, skeletal muscle and kidney. Specific isoforms appear to demonstrate tissue specificity. Isoform 5 is the most highly expressed in fetal tissue. Isoform 1 is detected in all tissues except the brain and thymus, while isoform 2, isoform 3, and isoform 4 are detected at low levels in approximately half of the fetal tissues.4 Publications

    Gene expression databases

    ArrayExpressiQ9UHD8.
    BgeeiQ9UHD8.
    CleanExiHS_SEPT9.
    GenevestigatoriQ9UHD8.

    Organism-specific databases

    HPAiHPA042564.
    HPA050627.

    Interactioni

    Subunit structurei

    Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with cellular membranes, actin filaments, and microtubules. GTPase activity is required for filament formation. Interacts with SEPT2, SEPT6, SEPT7, SEPT11 and SEPT14. Interacts with RTKN and ARHGEF18. In a mesenchymal cell line, Rho/RTKN signals cause disruption of wild-type septin filaments, but not of those containing isoform 2 variants HNA Trp-106 and Phe-111. In a mesenchymal cell line, isoform 2 variants HNA Trp-106 and Phe-111, but not wild type, form filaments with SEPT4.6 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    HIF1AQ166654EBI-851558,EBI-447269
    SEPT14Q6ZU153EBI-851558,EBI-2009297

    Protein-protein interaction databases

    BioGridi116015. 43 interactions.
    DIPiDIP-36697N.
    IntActiQ9UHD8. 8 interactions.
    MINTiMINT-5006676.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UHD8.
    SMRiQ9UHD8. Positions 297-565.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini295 – 567273Septin-type GAdd
    BLAST

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG5019.
    HOVERGENiHBG098529.
    InParanoidiQ9UHD8.
    KOiK16938.
    OMAiFWTIPKE.
    PhylomeDBiQ9UHD8.
    TreeFamiTF101078.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR000038. Cell_div_GTP-bd.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PANTHERiPTHR18884. PTHR18884. 1 hit.
    PfamiPF00735. Septin. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    PROSITEiPS51719. G_SEPTIN. 1 hit.
    [Graphical view]

    Sequences (8)i

    Sequence statusi: Complete.

    This entry describes 8 isoformsi produced by alternative splicing. Align

    Note: There are potentially 18 isoforms.

    Isoform 1 (identifier: Q9UHD8-1) [UniParc]FASTAAdd to Basket

    Also known as: Epsilon, MSF-A

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MKKSYSGGTR TSSGRLRRLG DSSGPALKRS FEVEEVETPN STPPRRVQTP    50
    LLRATVASST QKFQDLGVKN SEPSARHVDS LSQRSPKASL RRVELSGPKA 100
    AEPVSRRTEL SIDISSKQVE NAGAIGPSRF GLKRAEVLGH KTPEPAPRRT 150
    EITIVKPQES AHRRMEPPAS KVPEVPTAPA TDAAPKRVEI QMPKPAEAPT 200
    APSPAQTLEN SEPAPVSQLQ SRLEPKPQPP VAEATPRSQE ATEAAPSCVG 250
    DMADTPRDAG LKQAPASRNE KAPVDFGYVG IDSILEQMRR KAMKQGFEFN 300
    IMVVGQSGLG KSTLINTLFK SKISRKSVQP TSEERIPKTI EIKSITHDIE 350
    EKGVRMKLTV IDTPGFGDHI NNENCWQPIM KFINDQYEKY LQEEVNINRK 400
    KRIPDTRVHC CLYFIPATGH SLRPLDIEFM KRLSKVVNIV PVIAKADTLT 450
    LEERVHFKQR ITADLLSNGI DVYPQKEFDE DSEDRLVNEK FREMIPFAVV 500
    GSDHEYQVNG KRILGRKTKW GTIEVENTTH CEFAYLRDLL IRTHMQNIKD 550
    ITSSIHFEAY RVKRLNEGSS AMANGMEEKE PEAPEM 586
    Length:586
    Mass (Da):65,401
    Last modified:April 18, 2006 - v2
    Checksum:iD4404578328CFCFE
    GO
    Isoform 2 (identifier: Q9UHD8-2) [UniParc]FASTAAdd to Basket

    Also known as: Alpha

    The sequence of this isoform differs from the canonical sequence as follows:
         1-25: MKKSYSGGTRTSSGRLRRLGDSSGP → MERDRIS

    Show »
    Length:568
    Mass (Da):63,666
    Checksum:i47A03DD79B5D6147
    GO
    Isoform 3 (identifier: Q9UHD8-3) [UniParc]FASTAAdd to Basket

    Also known as: Beta, MSF-B

    The sequence of this isoform differs from the canonical sequence as follows:
         1-164: Missing.

    Show »
    Length:422
    Mass (Da):47,501
    Checksum:iF581FB2EA1A6E063
    GO
    Isoform 4 (identifier: Q9UHD8-4) [UniParc]FASTAAdd to Basket

    Also known as: Delta

    The sequence of this isoform differs from the canonical sequence as follows:
         1-251: Missing.

    Show »
    Length:335
    Mass (Da):38,518
    Checksum:i82375B44AEFFC64C
    GO
    Isoform 5 (identifier: Q9UHD8-5) [UniParc]FASTAAdd to Basket

    Also known as: Gamma

    The sequence of this isoform differs from the canonical sequence as follows:
         1-25: MKKSYSGGTRTSSGRLRRLGDSSGP → MSDPAVNAQLDGIISDFE

    Show »
    Length:579
    Mass (Da):64,682
    Checksum:iF176A071496AC44C
    GO
    Isoform 7 (identifier: Q9UHD8-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         7-25: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:567
    Mass (Da):63,502
    Checksum:i73741167A05AA0E1
    GO
    Isoform 8 (identifier: Q9UHD8-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-112: Missing.
         113-240: DISSKQVENA...VAEATPRSQE → MGSSFWEGLQ...CLATIGSDRQ

    Note: No experimental confirmation available.

    Show »
    Length:474
    Mass (Da):52,913
    Checksum:i5B5DCF81F2D1A597
    GO
    Isoform 9 (identifier: Q9UHD8-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-224: Missing.
         225-240: PKPQPPVAEATPRSQE → MAGAGCTGTWSWLWGT

    Note: No experimental confirmation available.

    Show »
    Length:362
    Mass (Da):41,187
    Checksum:i5530A4184F432A5C
    GO

    Sequence cautioni

    The sequence BAB14057.1 differs from that shown. Reason: Aberrant splicing.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti251 – 2511D → G in BAG64494. (PubMed:14702039)Curated
    Sequence conflicti487 – 4871V → E in BAB14057. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti76 – 761R → C.1 Publication
    VAR_020667
    Natural varianti106 – 1061R → W in HNA. 4 Publications
    VAR_033101
    Natural varianti111 – 1111S → F in HNA. 3 Publications
    VAR_033102
    Natural varianti145 – 1451P → L.3 Publications
    Corresponds to variant rs34587622 [ dbSNP | Ensembl ].
    VAR_020668
    Natural varianti576 – 5761M → V.10 Publications
    Corresponds to variant rs2627223 [ dbSNP | Ensembl ].
    VAR_020669

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 251251Missing in isoform 4. 2 PublicationsVSP_012335Add
    BLAST
    Alternative sequencei1 – 224224Missing in isoform 9. 1 PublicationVSP_038315Add
    BLAST
    Alternative sequencei1 – 164164Missing in isoform 3. 4 PublicationsVSP_012336Add
    BLAST
    Alternative sequencei1 – 112112Missing in isoform 8. 1 PublicationVSP_038316Add
    BLAST
    Alternative sequencei1 – 2525MKKSY…DSSGP → MERDRIS in isoform 2. 5 PublicationsVSP_012337Add
    BLAST
    Alternative sequencei1 – 2525MKKSY…DSSGP → MSDPAVNAQLDGIISDFE in isoform 5. 2 PublicationsVSP_012338Add
    BLAST
    Alternative sequencei7 – 2519Missing in isoform 7. 1 PublicationVSP_038317Add
    BLAST
    Alternative sequencei113 – 240128DISSK…PRSQE → MGSSFWEGLQVAVGLPQGCW PQGLDSGEPAEGGQLEAAPV CIVTRQSKETAGPTLGRGGW RQGSLRRGKGTSCRCRQLSP GHGPGRLTGCGECHRLPCRG LVSGFTGLRGQEEDDLAFCL ATIGSDRQ in isoform 8. 1 PublicationVSP_038318Add
    BLAST
    Alternative sequencei225 – 24016PKPQP…PRSQE → MAGAGCTGTWSWLWGT in isoform 9. 1 PublicationVSP_038319Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF123052 mRNA. Translation: AAD39749.1.
    AJ312319 mRNA. Translation: CAC42221.1.
    AJ312320 mRNA. Translation: CAC42222.1.
    AJ312321 mRNA. Translation: CAC42223.1.
    AJ312322 mRNA. Translation: CAC42224.1.
    AF189712 mRNA. Translation: AAF23373.1.
    AF189713 mRNA. Translation: AAF23374.1.
    AF142408 mRNA. Translation: AAG27919.1.
    AK022493 mRNA. Translation: BAB14057.1. Sequence problems.
    AK290368 mRNA. Translation: BAF83057.1.
    AK056495 mRNA. Translation: BAG51732.1.
    AK300270 mRNA. Translation: BAG62031.1.
    AK303449 mRNA. Translation: BAG64494.1.
    AK304143 mRNA. Translation: BAG65036.1.
    AK299828 mRNA. Translation: BAH13140.1.
    AK316473 mRNA. Translation: BAH14844.1.
    BT007215 mRNA. Translation: AAP35879.1.
    CH471099 Genomic DNA. Translation: EAW89462.1.
    CH471099 Genomic DNA. Translation: EAW89463.1.
    CH471099 Genomic DNA. Translation: EAW89468.1.
    BC021192 mRNA. Translation: AAH21192.1.
    BC054004 mRNA. Translation: AAH54004.1.
    AB023208 mRNA. Translation: BAA76835.2.
    AL080131 mRNA. Translation: CAB45728.1.
    CCDSiCCDS45790.1. [Q9UHD8-1]
    CCDS45791.1. [Q9UHD8-2]
    CCDS45792.1. [Q9UHD8-5]
    CCDS45793.1. [Q9UHD8-3]
    CCDS45794.1. [Q9UHD8-8]
    CCDS45795.1. [Q9UHD8-4]
    PIRiT12519.
    RefSeqiNP_001106963.1. NM_001113491.1. [Q9UHD8-1]
    NP_001106964.1. NM_001113492.1. [Q9UHD8-3]
    NP_001106965.1. NM_001113493.1. [Q9UHD8-5]
    NP_001106966.1. NM_001113494.1. [Q9UHD8-3]
    NP_001106967.1. NM_001113495.1. [Q9UHD8-8]
    NP_001106968.1. NM_001113496.1. [Q9UHD8-4]
    NP_006631.2. NM_006640.4. [Q9UHD8-2]
    XP_005257017.1. XM_005256960.1. [Q9UHD8-4]
    XP_005257019.1. XM_005256962.1. [Q9UHD8-4]
    XP_006721706.1. XM_006721643.1. [Q9UHD8-3]
    XP_006721707.1. XM_006721644.1. [Q9UHD8-4]
    UniGeneiHs.440932.

    Genome annotation databases

    EnsembliENST00000329047; ENSP00000329161; ENSG00000184640. [Q9UHD8-2]
    ENST00000423034; ENSP00000405877; ENSG00000184640. [Q9UHD8-5]
    ENST00000427177; ENSP00000391249; ENSG00000184640. [Q9UHD8-1]
    ENST00000427180; ENSP00000415624; ENSG00000184640. [Q9UHD8-8]
    ENST00000427674; ENSP00000403194; ENSG00000184640. [Q9UHD8-3]
    ENST00000431235; ENSP00000406987; ENSG00000184640. [Q9UHD8-3]
    ENST00000449803; ENSP00000400181; ENSG00000184640. [Q9UHD8-3]
    ENST00000541152; ENSP00000438089; ENSG00000184640. [Q9UHD8-4]
    ENST00000585930; ENSP00000468120; ENSG00000184640. [Q9UHD8-9]
    ENST00000588690; ENSP00000468668; ENSG00000184640. [Q9UHD8-3]
    ENST00000590294; ENSP00000465464; ENSG00000184640. [Q9UHD8-2]
    ENST00000591088; ENSP00000466247; ENSG00000184640. [Q9UHD8-4]
    ENST00000591198; ENSP00000468406; ENSG00000184640. [Q9UHD8-7]
    ENST00000592951; ENSP00000466648; ENSG00000184640. [Q9UHD8-4]
    GeneIDi10801.
    KEGGihsa:10801.
    UCSCiuc002jts.4. human. [Q9UHD8-1]
    uc002jtu.4. human. [Q9UHD8-2]
    uc002jtv.3. human. [Q9UHD8-5]
    uc010dhd.3. human. [Q9UHD8-8]
    uc010wtk.2. human. [Q9UHD8-7]
    uc010wtl.2. human. [Q9UHD8-9]

    Polymorphism databases

    DMDMi93141311.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF123052 mRNA. Translation: AAD39749.1 .
    AJ312319 mRNA. Translation: CAC42221.1 .
    AJ312320 mRNA. Translation: CAC42222.1 .
    AJ312321 mRNA. Translation: CAC42223.1 .
    AJ312322 mRNA. Translation: CAC42224.1 .
    AF189712 mRNA. Translation: AAF23373.1 .
    AF189713 mRNA. Translation: AAF23374.1 .
    AF142408 mRNA. Translation: AAG27919.1 .
    AK022493 mRNA. Translation: BAB14057.1 . Sequence problems.
    AK290368 mRNA. Translation: BAF83057.1 .
    AK056495 mRNA. Translation: BAG51732.1 .
    AK300270 mRNA. Translation: BAG62031.1 .
    AK303449 mRNA. Translation: BAG64494.1 .
    AK304143 mRNA. Translation: BAG65036.1 .
    AK299828 mRNA. Translation: BAH13140.1 .
    AK316473 mRNA. Translation: BAH14844.1 .
    BT007215 mRNA. Translation: AAP35879.1 .
    CH471099 Genomic DNA. Translation: EAW89462.1 .
    CH471099 Genomic DNA. Translation: EAW89463.1 .
    CH471099 Genomic DNA. Translation: EAW89468.1 .
    BC021192 mRNA. Translation: AAH21192.1 .
    BC054004 mRNA. Translation: AAH54004.1 .
    AB023208 mRNA. Translation: BAA76835.2 .
    AL080131 mRNA. Translation: CAB45728.1 .
    CCDSi CCDS45790.1. [Q9UHD8-1 ]
    CCDS45791.1. [Q9UHD8-2 ]
    CCDS45792.1. [Q9UHD8-5 ]
    CCDS45793.1. [Q9UHD8-3 ]
    CCDS45794.1. [Q9UHD8-8 ]
    CCDS45795.1. [Q9UHD8-4 ]
    PIRi T12519.
    RefSeqi NP_001106963.1. NM_001113491.1. [Q9UHD8-1 ]
    NP_001106964.1. NM_001113492.1. [Q9UHD8-3 ]
    NP_001106965.1. NM_001113493.1. [Q9UHD8-5 ]
    NP_001106966.1. NM_001113494.1. [Q9UHD8-3 ]
    NP_001106967.1. NM_001113495.1. [Q9UHD8-8 ]
    NP_001106968.1. NM_001113496.1. [Q9UHD8-4 ]
    NP_006631.2. NM_006640.4. [Q9UHD8-2 ]
    XP_005257017.1. XM_005256960.1. [Q9UHD8-4 ]
    XP_005257019.1. XM_005256962.1. [Q9UHD8-4 ]
    XP_006721706.1. XM_006721643.1. [Q9UHD8-3 ]
    XP_006721707.1. XM_006721644.1. [Q9UHD8-4 ]
    UniGenei Hs.440932.

    3D structure databases

    ProteinModelPortali Q9UHD8.
    SMRi Q9UHD8. Positions 297-565.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116015. 43 interactions.
    DIPi DIP-36697N.
    IntActi Q9UHD8. 8 interactions.
    MINTi MINT-5006676.

    PTM databases

    PhosphoSitei Q9UHD8.

    Polymorphism databases

    DMDMi 93141311.

    Proteomic databases

    MaxQBi Q9UHD8.
    PaxDbi Q9UHD8.
    PRIDEi Q9UHD8.

    Protocols and materials databases

    DNASUi 10801.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329047 ; ENSP00000329161 ; ENSG00000184640 . [Q9UHD8-2 ]
    ENST00000423034 ; ENSP00000405877 ; ENSG00000184640 . [Q9UHD8-5 ]
    ENST00000427177 ; ENSP00000391249 ; ENSG00000184640 . [Q9UHD8-1 ]
    ENST00000427180 ; ENSP00000415624 ; ENSG00000184640 . [Q9UHD8-8 ]
    ENST00000427674 ; ENSP00000403194 ; ENSG00000184640 . [Q9UHD8-3 ]
    ENST00000431235 ; ENSP00000406987 ; ENSG00000184640 . [Q9UHD8-3 ]
    ENST00000449803 ; ENSP00000400181 ; ENSG00000184640 . [Q9UHD8-3 ]
    ENST00000541152 ; ENSP00000438089 ; ENSG00000184640 . [Q9UHD8-4 ]
    ENST00000585930 ; ENSP00000468120 ; ENSG00000184640 . [Q9UHD8-9 ]
    ENST00000588690 ; ENSP00000468668 ; ENSG00000184640 . [Q9UHD8-3 ]
    ENST00000590294 ; ENSP00000465464 ; ENSG00000184640 . [Q9UHD8-2 ]
    ENST00000591088 ; ENSP00000466247 ; ENSG00000184640 . [Q9UHD8-4 ]
    ENST00000591198 ; ENSP00000468406 ; ENSG00000184640 . [Q9UHD8-7 ]
    ENST00000592951 ; ENSP00000466648 ; ENSG00000184640 . [Q9UHD8-4 ]
    GeneIDi 10801.
    KEGGi hsa:10801.
    UCSCi uc002jts.4. human. [Q9UHD8-1 ]
    uc002jtu.4. human. [Q9UHD8-2 ]
    uc002jtv.3. human. [Q9UHD8-5 ]
    uc010dhd.3. human. [Q9UHD8-8 ]
    uc010wtk.2. human. [Q9UHD8-7 ]
    uc010wtl.2. human. [Q9UHD8-9 ]

    Organism-specific databases

    CTDi 10801.
    GeneCardsi GC17P075277.
    GeneReviewsi SEPT9.
    HGNCi HGNC:7323. SEPT9.
    HPAi HPA042564.
    HPA050627.
    MIMi 162100. phenotype.
    604061. gene.
    neXtProti NX_Q9UHD8.
    Orphaneti 2901. Neuralgic amyotrophy.
    PharmGKBi PA31132.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5019.
    HOVERGENi HBG098529.
    InParanoidi Q9UHD8.
    KOi K16938.
    OMAi FWTIPKE.
    PhylomeDBi Q9UHD8.
    TreeFami TF101078.

    Miscellaneous databases

    ChiTaRSi SEPT9. human.
    GeneWikii SEPT9.
    GenomeRNAii 10801.
    NextBioi 41021.
    PROi Q9UHD8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UHD8.
    Bgeei Q9UHD8.
    CleanExi HS_SEPT9.
    Genevestigatori Q9UHD8.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR000038. Cell_div_GTP-bd.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    PANTHERi PTHR18884. PTHR18884. 1 hit.
    Pfami PF00735. Septin. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    PROSITEi PS51719. G_SEPTIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25)."
      Osaka M., Rowley J.D., Zeleznik-Le N.J.
      Proc. Natl. Acad. Sci. U.S.A. 96:6428-6433(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT VAL-576, TISSUE SPECIFICITY, DISEASE, CHROMOSOMAL TRANSLOCATION.
    2. "Isolation and mapping of a human septin gene to a region on chromosome 17q, commonly deleted in sporadic epithelial ovarian tumors."
      Russell S.E.H., McIlhatton M.A., Burrows J.F., Donaghy P.G., Chanduloy S., Petty E.M., Kalikin L.M., Church S.W., McIlroy S., Harkin D.P., Keilty G.W., Cranston A.N., Weissenbach J., Hickey I., Johnston P.G.
      Cancer Res. 60:4729-4734(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4 AND 5), VARIANTS CYS-76; LEU-145 AND VAL-576.
    3. "Genomic and expression analyses of alternatively spliced transcripts of the MLL septin-like fusion gene (MSF) that map to a 17q25 region of loss in breast and ovarian tumors."
      Kalikin L.M., Sims H.L., Petty E.M.
      Genomics 63:165-172(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), VARIANT VAL-576, TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
    4. "Novel human cell division control protein septin D1."
      Zhang W., He L., Wan T., Yuan Z., Zhu X., Cao X.
      Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT VAL-576.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4; 5; 7; 8 AND 9), VARIANTS LEU-145 AND VAL-576.
      Tissue: Fetal brain, Mammary gland, Placenta, Teratocarcinoma, Thymus, Tongue and Trachea.
    6. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT VAL-576.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT VAL-576.
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANT VAL-576.
      Tissue: Eye and Skin.
    9. "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 26-586, VARIANT VAL-576.
      Tissue: Brain.
    10. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 353-586, VARIANT VAL-576.
      Tissue: Testis.
    11. "Genomic organization, complex splicing pattern and expression of a human septin gene on chromosome 17q25.3."
      McIlhatton M.A., Burrows J.F., Donaghy P.G., Chanduloy S., Johnston P.G., Russell S.E.
      Oncogene 20:5930-5939(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
    12. "Biochemical and cell biological analyses of a mammalian septin complex, Sept7/9b/11."
      Nagata K., Asano T., Nozawa Y., Inagaki M.
      J. Biol. Chem. 279:55895-55904(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SEPT7 AND SEPT11.
    13. "Expression profiling the human septin gene family."
      Hall P.A., Jung K., Hillan K.J., Russell S.E.H.
      J. Pathol. 206:269-278(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    14. "Cytoskeletal modification of Rho guanine nucleotide exchange factor activity: identification of a Rho guanine nucleotide exchange factor as a binding partner for Sept9b, a mammalian septin."
      Nagata K., Inagaki M.
      Oncogene 24:65-76(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ARHGEF18.
    15. "Possible role of Rho/Rhotekin signaling in mammalian septin organization."
      Ito H., Iwamoto I., Morishita R., Nozawa Y., Narumiya S., Asano T., Nagata K.
      Oncogene 24:7064-7072(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RTKN.
    16. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-85, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    17. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
      Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
      Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30 AND THR-42, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    18. "SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling."
      Sudo K., Ito H., Iwamoto I., Morishita R., Asano T., Nagata K.
      Hum. Mutat. 28:1005-1013(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INTERACTION WITH SEPT4, VARIANTS HNA TRP-106 AND PHE-111.
    19. "Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin."
      Peterson E.A., Kalikin L.M., Steels J.D., Estey M.P., Trimble W.S., Petty E.M.
      Mamm. Genome 18:796-807(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SEPT14, SUBCELLULAR LOCATION.
    20. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
      Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
      J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    21. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30; THR-38 AND THR-42, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    22. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    23. Cited for: INTERACTION WITH SEPT2; SEPT6; SEPT7 AND SEPT11, ASSOCIATION WITH ACTIN FILAMENTS AND MICROTUBULES.
    24. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30 AND TYR-278, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    25. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30; SER-82; SER-85; SER-96 AND THR-142, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    26. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    27. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30; SER-85 AND SER-327, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    28. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    29. Cited for: VARIANTS HNA TRP-106 AND PHE-111.
    30. "Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation -- a family study."
      Laccone F., Hannibal M.C., Neesen J., Grisold W., Chance P.F., Rehder H.
      Clin. Genet. 74:279-283(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HNA TRP-106.
    31. Cited for: VARIANTS HNA TRP-106 AND PHE-111, VARIANT LEU-145.

    Entry informationi

    Entry nameiSEPT9_HUMAN
    AccessioniPrimary (citable) accession number: Q9UHD8
    Secondary accession number(s): A8K2V3
    , B3KPM0, B4DTL9, B4E0N2, B4E274, B7Z654, Q96QF3, Q96QF4, Q96QF5, Q9HA04, Q9UG40, Q9Y5W4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 21, 2004
    Last sequence update: April 18, 2006
    Last modified: October 1, 2014
    This is version 133 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3