Homo sapiens Protein: SEPT9 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-384939.5 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | SEPT9 | ||||||||||||||||||
Protein Name | septin 9 | ||||||||||||||||||
Synonyms | AF17q25; MSF; MSF1; NAPB; PNUTL4; SeptD1; SINT1; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000400181 | ||||||||||||||||||
InnateDB Gene | IDBG-70233 (SEPT9) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
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. {ECO:0000250, ECO:0000305}. | ||||||||||||||||||
Subcellular Localization | Cytoplasm, cytoskeleton {ECO:0000269PubMed:17546647, ECO:0000269PubMed:17922164}. 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. | ||||||||||||||||||
Disease Associations | Note=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. {ECO:0000269PubMed:10339604}.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. {ECO:0000269PubMed:16186812, ECO:0000269PubMed:17546647, ECO:0000269PubMed:18492087, ECO:0000269PubMed:19451530}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
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. {ECO:0000269PubMed:10339604, ECO:0000269PubMed:10673329, ECO:0000269PubMed:11593400, ECO:0000269PubMed:15915442}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 52 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000038
Cell division protein GTP binding IPR000795 Elongation factor, GTP-binding domain IPR004881 Ribosome biogenesis GTPase RsgA, putative IPR006073 GTP binding domain IPR006703 AIG1 IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00735
PF00009 PF03193 PF01926 PF04548 |
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PRINTS |
PR00315
PR00326 |
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PIRSF | |||||||||||||||||||
SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9UHD8 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9UHD8 | ||||||||||||||||||
TrEMBL | K7ERG1 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 10801 | ||||||||||||||||||
UniGene | Hs.738922 | ||||||||||||||||||
RefSeq | NP_001280627 | ||||||||||||||||||
HUGO | HGNC:7323 | ||||||||||||||||||
OMIM | 604061 | ||||||||||||||||||
CCDS | CCDS45793 | ||||||||||||||||||
HPRD | 10360 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB023208 AC068594 AC111170 AC111182 AF123052 AF142408 AF189712 AF189713 AJ312319 AJ312320 AJ312321 AJ312322 AK022493 AK056495 AK290368 AK299828 AK300270 AK303449 AK304143 AK316473 AL080131 BC021192 BC054004 BT007215 CH471099 | ||||||||||||||||||
GenPept | AAD39749 AAF23373 AAF23374 AAG27919 AAH21192 AAH54004 AAP35879 BAA76835 BAB14057 BAF83057 BAG51732 BAG62031 BAG64494 BAG65036 BAH13140 BAH14844 CAB45728 CAC42221 CAC42222 CAC42223 CAC42224 EAW89462 EAW89463 EAW89468 | ||||||||||||||||||