Q9UHD8 (SEPT9_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 104.
History...
Clusters with 
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 586 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. |
| Subunit structure | 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. Ref.12 Ref.15 Ref.16 Ref.20 Ref.21 Ref.27 |
| Subcellular location | Cytoplasm › cytoskeleton. 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. Ref.20 Ref.21 |
| Tissue specificity | 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. Ref.1 Ref.3 Ref.11 Ref.13 |
| Involvement in disease | Note=A chromosomal aberration involving SEPT9/MSF is found in therapy-related acute myeloid leukemia (t-AML). Translocation t(11;17)(q23;q25) with MLL. Ref.1 Defects in SEPT9 are a cause of hereditary neuralgic amyotrophy (HNA) [MIM:162100]; also known as neuritis with brachial predilection (NAPB) or hereditary brachial plexus neuropathy or hereditary neuralgic amyotrophy with predilection for brachial plexus. HNA is an 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. Ref.1 Ref.20 Ref.31 Ref.32 Ref.33 |
| Sequence similarities | Belongs to the septin family. |
| Sequence caution | The sequence BAB14057.1 differs from that shown. Reason: Aberrant splicing. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| HIF1A | Q16665 | 4 | EBI-851558,EBI-447269 | |
| SEPT14 | Q6ZU15 | 3 | EBI-851558,EBI-2009297 |
Alternative products
| This entry describes 8 isoforms produced by alternative splicing. [Align] [Select] Note: There are potentially 18 isoforms. | ||||||
| Isoform 1 (identifier: Q9UHD8-1) 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. | ||||||
| Isoform 2 (identifier: Q9UHD8-2) Also known as: Alpha; The sequence of this isoform differs from the canonical sequence as follows: 1-25: MKKSYSGGTRTSSGRLRRLGDSSGP → MERDRIS | ||||||
| Isoform 3 (identifier: Q9UHD8-3) Also known as: Beta; MSF-B; The sequence of this isoform differs from the canonical sequence as follows: 1-164: Missing. | ||||||
| Isoform 4 (identifier: Q9UHD8-4) Also known as: Delta; The sequence of this isoform differs from the canonical sequence as follows: 1-251: Missing. | ||||||
| Isoform 5 (identifier: Q9UHD8-5) Also known as: Gamma; The sequence of this isoform differs from the canonical sequence as follows: 1-25: MKKSYSGGTRTSSGRLRRLGDSSGP → MSDPAVNAQLDGIISDFE | ||||||
| Isoform 7 (identifier: Q9UHD8-7) The sequence of this isoform differs from the canonical sequence as follows: 7-25: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 8 (identifier: Q9UHD8-8) 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. | ||||||
| Isoform 9 (identifier: Q9UHD8-9) The sequence of this isoform differs from the canonical sequence as follows: 1-224: Missing. 225-240: PKPQPPVAEATPRSQE → MAGAGCTGTWSWLWGT | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 586 | 586 | Septin-9 | PRO_0000173535 | |||||
Regions | |||||||||
| Nucleotide binding | 305 – 312 | 8 | GTP By similarity | ||||||
| Nucleotide binding | 445 – 453 | 9 | GTP By similarity | ||||||
Sites | |||||||||
| Binding site | 339 | 1 | GTP By similarity | ||||||
| Binding site | 365 | 1 | GTP; via amide nitrogen By similarity | ||||||
| Binding site | 501 | 1 | GTP; via amide nitrogen and carbonyl oxygen By similarity | ||||||
| Binding site | 516 | 1 | GTP By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 30 | 1 | Phosphoserine Ref.18 Ref.23 Ref.24 Ref.25 Ref.28 | ||||||
| Modified residue | 38 | 1 | Phosphothreonine Ref.25 Ref.28 | ||||||
| Modified residue | 42 | 1 | Phosphothreonine Ref.18 Ref.25 Ref.26 | ||||||
| Modified residue | 49 | 1 | Phosphothreonine Ref.25 | ||||||
| Modified residue | 80 | 1 | Phosphoserine Ref.24 | ||||||
| Modified residue | 82 | 1 | Phosphoserine Ref.22 Ref.26 | ||||||
| Modified residue | 85 | 1 | Phosphoserine Ref.14 Ref.17 Ref.22 Ref.26 | ||||||
| Modified residue | 89 | 1 | Phosphoserine Ref.22 | ||||||
| Modified residue | 142 | 1 | Phosphothreonine Ref.22 | ||||||
| Modified residue | 160 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 278 | 1 | Phosphotyrosine Ref.19 Ref.28 | ||||||
| Modified residue | 352 | 1 | N6-acetyllysine Ref.29 | ||||||
| Modified residue | 431 | 1 | N6-acetyllysine Ref.29 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 251 | 251 | Missing in isoform 4. | VSP_012335 | |||||
| Alternative sequence | 1 – 224 | 224 | Missing in isoform 9. | VSP_038315 | |||||
| Alternative sequence | 1 – 164 | 164 | Missing in isoform 3. | VSP_012336 | |||||
| Alternative sequence | 1 – 112 | 112 | Missing in isoform 8. | VSP_038316 | |||||
| Alternative sequence | 1 – 25 | 25 | MKKSY…DSSGP → MERDRIS in isoform 2. | VSP_012337 | |||||
| Alternative sequence | 1 – 25 | 25 | MKKSY…DSSGP → MSDPAVNAQLDGIISDFE in isoform 5. | VSP_012338 | |||||
| Alternative sequence | 7 – 25 | 19 | Missing in isoform 7. | VSP_038317 | |||||
| Alternative sequence | 113 – 240 | 128 | DISSK…PRSQE → MGSSFWEGLQVAVGLPQGCW PQGLDSGEPAEGGQLEAAPV CIVTRQSKETAGPTLGRGGW RQGSLRRGKGTSCRCRQLSP GHGPGRLTGCGECHRLPCRG LVSGFTGLRGQEEDDLAFCL ATIGSDRQ in isoform 8. | VSP_038318 | |||||
| Alternative sequence | 225 – 240 | 16 | PKPQP…PRSQE → MAGAGCTGTWSWLWGT in isoform 9. | VSP_038319 | |||||
| Natural variant | 76 | 1 | R → C. Ref.2 | VAR_020667 | |||||
| Natural variant | 106 | 1 | R → W in HNA. Ref.20 Ref.31 Ref.32 Ref.33 | VAR_033101 | |||||
| Natural variant | 111 | 1 | S → F in HNA. Ref.20 Ref.31 Ref.33 | VAR_033102 | |||||
| Natural variant | 145 | 1 | P → L. Ref.2 Ref.5 Ref.33 Corresponds to variant rs34587622 [ dbSNP | Ensembl ]. | VAR_020668 | |||||
| Natural variant | 576 | 1 | M → V. Ref.1 Ref.2 Ref.3 Ref.4 Ref.5 Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Corresponds to variant rs2627223 [ dbSNP | Ensembl ]. | VAR_020669 | |||||
Experimental info | |||||||||
| Sequence conflict | 251 | 1 | D → G in BAG64494. Ref.5 | ||||||
| Sequence conflict | 487 | 1 | V → E in BAB14057. Ref.5 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [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: 10339604] [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: 10987277] [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: 10673329] [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.  Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [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] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [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: 10231032] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 26-586, VARIANT VAL-576. Tissue: Brain. |
| [10] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] 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: 11593400] [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: 15485874] [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: 15915442] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [14] | "Global phosphoproteome of HT-29 human colon adenocarcinoma cells." Kim J.-E., Tannenbaum S.R., White F.M. J. Proteome Res. 4:1339-1346(2005) [PubMed: 16083285] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-85, MASS SPECTROMETRY. Tissue: Colon adenocarcinoma. |
| [15] | "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: 15558029] [Abstract] Cited for: INTERACTION WITH ARHGEF18. |
| [16] | "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: 16007136] [Abstract] Cited for: INTERACTION WITH RTKN. |
| [17] | "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: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-85, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [18] | "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: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30 AND THR-42, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [19] | "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer." Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., Mitchell J., Wetzel R., Macneill J., Ren J.M. Comb M.J.Cell 131:1190-1203(2007) [PubMed: 18083107] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-278, MASS SPECTROMETRY. Tissue: Lung carcinoma. |
| [20] | "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: 17546647] [Abstract] Cited for: SUBCELLULAR LOCATION, INTERACTION WITH SEPT4, VARIANTS HNA TRP-106 AND PHE-111. |
| [21] | "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: 17922164] [Abstract] Cited for: INTERACTION WITH SEPT14, SUBCELLULAR LOCATION. |
| [22] | "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry." Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A. Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007) [PubMed: 17287340] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-82; SER-85; SER-89 AND THR-142, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [23] | "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: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [24] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30 AND SER-80, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [25] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30; THR-38; THR-42 AND THR-49, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [26] | "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: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-42; SER-82 AND SER-85, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [27] | "Septins regulate bacterial entry into host cells." Mostowy S., Nam Tham T., Danckaert A., Guadagnini S., Boisson-Dupuis S., Pizarro-Cerda J., Cossart P. PLoS ONE 4:E4196-E4196(2009) [PubMed: 19145258] [Abstract] Cited for: INTERACTION WITH SEPT2; SEPT6; SEPT7 AND SEPT11, ASSOCIATION WITH ACTIN FILAMENTS AND MICROTUBULES. |
| [28] | "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: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30; THR-38 AND TYR-278, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [29] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-352 AND LYS-431, MASS SPECTROMETRY. |
| [30] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [31] | "Mutations in SEPT9 cause hereditary neuralgic amyotrophy." Kuhlenbaeumer G., Hannibal M.C., Nelis E., Schirmacher A., Verpoorten N., Meuleman J., Watts G.D.J., De Vriendt E., Young P., Stoegbauer F., Halfter H., Irobi J., Goossens D., Del-Favero J., Betz B.G., Hor H., Kurlemann G., Bird T.D. Chance P.F.Nat. Genet. 37:1044-1046(2005) [PubMed: 16186812] [Abstract] Cited for: VARIANTS HNA TRP-106 AND PHE-111. |
| [32] | "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: 18492087] [Abstract] Cited for: VARIANT HNA TRP-106. |
| [33] | "SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy." Hannibal M.C., Ruzzo E.K., Miller L.R., Betz B., Buchan J.G., Knutzen D.M., Barnett K., Landsverk M.L., Brice A., LeGuern E., Bedford H.M., Worrall B.B., Lovitt S., Appel S.H., Andermann E., Bird T.D., Chance P.F. Neurology 72:1755-1759(2009) [PubMed: 19451530] [Abstract] Cited for: VARIANTS HNA TRP-106 AND PHE-111, VARIANT LEU-145. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| PIR | T12519. |
| RefSeq | NP_001106963.1. NM_001113491.1. NP_001106964.1. NM_001113492.1. NP_001106965.1. NM_001113493.1. NP_001106966.1. NM_001113494.1. NP_001106967.1. NM_001113495.1. NP_001106968.1. NM_001113496.1. NP_006631.2. NM_006640.4. |
| UniGene | Hs.440932. |
3D structure databases | |
| ProteinModelPortal | Q9UHD8. |
| SMR | Q9UHD8. Positions 295-566. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9UHD8. 5 interactions. |
| STRING | Q9UHD8. |
PTM databases | |
| PhosphoSite | Q9UHD8. |
Polymorphism databases | |
| DMDM | 93141311. |
Proteomic databases | |
| PRIDE | Q9UHD8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000427177; ENSP00000391249; ENSG00000184640. |
| GeneID | 10801. |
| KEGG | hsa:10801. |
| NMPDR | fig|9606.3.peg.14468. |
| UCSC | uc002jts.2. human. uc002jtt.2. human. uc002jtu.2. human. |
Organism-specific databases | |
| CTD | 10801. |
| GeneCards | GC17P075277. |
| HGNC | HGNC:7323. SEPT9. |
| MIM | 162100. phenotype. 604061. gene. |
| neXtProt | NX_Q9UHD8. |
| Orphanet | 178498. Hereditary neuralgic amyotrophy. |
| PharmGKB | PA31132. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00590000082767. |
| HOVERGEN | HBG098529. |
| InParanoid | Q9UHD8. |
| OMA | EYQINGR. |
| OrthoDB | EOG4WDDBR. |
| PhylomeDB | Q9UHD8. |
Gene expression databases | |
| ArrayExpress | Q9UHD8. |
| Bgee | Q9UHD8. |
| CleanEx | HS_SEPT9. |
| Genevestigator | Q9UHD8. |
| GermOnline | ENSG00000184640. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000038. Cell_div_GTP-bd. [Graphical view] |
| PANTHER | PTHR18884. Cell_Div_GTP_bd. 1 hit. |
| Pfam | PF00735. Septin. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 41021. |
| SOURCE | Search... |
Entry information
| Entry name | SEPT9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UHD8 Secondary accession number(s): A8K2V3 Q9Y5W4 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |