| Name | septin 5 |
| Description | This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSEPTIN5, also known as CDCrel‑1 or PNUTL1, is a neuron‐enriched member of the septin family that plays key roles in vesicular dynamics and neurotransmitter homeostasis. Overexpression studies in rat models have shown that increased levels of CDCrel‑1 can inhibit dopamine release, leading to dopamine‑dependent neurotoxicity and loss of nigral dopaminergic neurons—a mechanism implicated in forms of Parkinson’s disease (PD) that arise from impaired protein degradation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBiochemical and cell biological investigations indicate that SEPTIN5 is involved in the formation of septin complexes via both homotypic and heterotypic interactions. Its conserved central core domain facilitates binding with other septins—such as SEPT8—while the variable N‑ and C‑termini contribute to self‐assembly and proper cellular targeting. In addition, its expression in non‑neuronal secretory cells, such as the pancreatic endocrine cells, and its detection in proliferative retinal membranes, suggest a broader role in regulating membrane fusion events during exocytosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nRecent studies also highlight that alterations in SEPTIN5 levels can influence cellular quality control pathways relevant to neurodegenerative disorders. In PD models, modified expression of SEPTIN5 is linked to imbalances in dopaminergic signaling and interacts with stress‑related proteins, while in Alzheimer’s disease models, downregulation of SEPTIN5 appears to accelerate autophagy‐mediated degradation of amyloid precursor protein C‑terminal fragments, resulting in reduced amyloid‑β accumulation. These findings underscore the complex contribution of SEPTIN5 to both synaptic function and the pathogenesis of neurodegenerative diseases."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Zhizhong Dong, Boris Ferger, Jean-Charles Paterna, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dopamine-dependent neurodegeneration in rats induced by viral vector-mediated overexpression of the parkin target protein, CDCrel-1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.2132992100"}], "href": "https://doi.org/10.1073/pnas.2132992100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14530399"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14530399"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Constantino Martínez, Miguel A Sanjuan, Judith A Dent, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human septin-septin interactions as a prerequisite for targeting septin complexes in the cytosol."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20040372"}], "href": "https://doi.org/10.1042/BJ20040372"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15214843"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15214843"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Gabriele Capurso, Tatjana Crnogorac-Jurcevic, Massimo Milione, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Peanut-like 1 (septin 5) gene expression in normal and neoplastic human endocrine pancreas."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuroendocrinology (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000088449"}], "href": "https://doi.org/10.1159/000088449"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16179808"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16179808"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Xiaorong Xin, Mona Pache, Barbara Zieger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Septin expression in proliferative retinal membranes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Histochem Cytochem (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1369/jhc.7A7188.2007"}], "href": "https://doi.org/10.1369/jhc.7A7188.2007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17625225"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17625225"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Alisha E Jung, Helen L Fitzsimons, Ross J Bland, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HSP70 and constitutively active HSF1 mediate protection against CDCrel-1-mediated toxicity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Ther (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mt.2008.68"}], "href": "https://doi.org/10.1038/mt.2008.68"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18398426"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18398426"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Arman Rahimmi, Ilaria Peluso, Aref Rajabi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "miR-185 and SEPT5 Genes May Contribute to Parkinson's Disease Pathophysiology."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oxid Med Cell Longev (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2019/5019815"}], "href": "https://doi.org/10.1155/2019/5019815"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31814881"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31814881"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Mikael Marttinen, Catarina B Ferreira, Kaisa M A Paldanius, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Presynaptic Vesicle Protein SEPTIN5 Regulates the Degradation of APP C-Terminal Fragments and the Levels of Aβ."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cells (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/cells9112482"}], "href": "https://doi.org/10.3390/cells9112482"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33203136"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33203136"}]}]}]}
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| NCBI Gene ID | 5413 |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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SEPTIN5 has 2,143 functional associations with biological entities spanning 6 categories (chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 41 datasets.
Click the + buttons to view associations for SEPTIN5 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of SEPTIN5 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of SEPTIN5 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with SEPTIN5 protein from the CCLE Cell Line Proteomics dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of SEPTIN5 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of SEPTIN5 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| CM4AI U2OS Cell Map Protein Localization Assemblies | assemblies containing SEPTIN5 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing SEPTIN5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing SEPTIN5 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with SEPTIN5 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of SEPTIN5 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by SEPTIN5 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with SEPTIN5 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with SEPTIN5 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving SEPTIN5 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving SEPTIN5 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing SEPTIN5 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing SEPTIN5 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by SEPTIN5 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by SEPTIN5 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of SEPTIN5 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of SEPTIN5 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with SEPTIN5 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by SEPTIN5 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of SEPTIN5 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of SEPTIN5 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| KEGG Pathways 2026 | pathways involving SEPTIN5 protein from the KEGG Pathways 2026 dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by SEPTIN5 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of SEPTIN5 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of SEPTIN5 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving SEPTIN5 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving SEPTIN5 protein from the Wikipathways PFOCR 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of SEPTIN5 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of SEPTIN5 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of SEPTIN5 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of SEPTIN5 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of SEPTIN5 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| SynGO Synaptic Gene Annotations | synaptic terms associated with SEPTIN5 gene from the SynGO Synaptic Gene Annotations dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of SEPTIN5 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of SEPTIN5 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with SEPTIN5 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving SEPTIN5 protein from the WikiPathways Pathways 2024 dataset. | |
