| Gene Information | |
|---|---|
| Gene Name | KIAA0991 |
| Organism | Homo sapiens (Human) |
| Gene Length | 586 |
| Protein Names | Septin-9 (MLL septin-like fusion protein MSF-A) (MLL septin-like fusion protein) (Ovarian/Breast septin) (Ov/Br septin) (Septin D1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9UHD8 |
| Gene Card | SEPTIN9 |
| Uniprot ID | Q9UHD8 |
| Pfam | PF00735 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| 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:0000269|PubMed:10339604, ECO:0000269|PubMed:10673329, ECO:0000269|PubMed:11593400, ECO:0000269|PubMed:15915442}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.10465(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 4YQF (X-ray 2.73A ) 5CYO (X-ray 2.04A ) 5CYP (X-ray 2.89A ) |
| DBSNP | rs202079794 rs80338761 rs80338762 rs34587622 rs2627223 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17546647, ECO:0000269|PubMed: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. |
| Mouse PG classification | NA |
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