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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SEPTIN1
septin 1
Chromosome 16 · 16p11.2
NCBI Gene: 1731Ensembl: ENSG00000180096HGNC: HGNC:2879UniProt: J3KNL2
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingprotein bindingmidbodyregulation of exocytosisosteosarcomasubstance abuseMiyoshi myopathyoral squamous cell carcinoma
✦AI Summary

SEPTIN1 is a filament-forming cytoskeletal GTPase that functions as a scaffolding protein in multiple cellular processes. Mechanistically, SEPTIN1 localizes to the midbody and spindle poles during mitosis, where it interacts with Aurora-B kinase that phosphorylates it at serine residues (248, 307, 315), regulating its role in cytokinesis and chromosome 16 1. At the Golgi apparatus, SEPTIN1 forms a scaffold dependent on GM130 and centrosomal proteins to promote microtubule nucleation and maintain Golgi ribbon integrity, with SEPTIN1 depletion causing Golgi fragmentation and impaired membrane trafficking 2. In epithelial cells, SEPTIN1 localizes to lamellipodia through actin-dependent mechanisms and forms complexes with SEPT4 and SEPT5 to regulate cell spreading and migration 3. Clinically, SEPTIN1 overexpression is associated with oral squamous-cell carcinoma progression, with 89% of tumors showing elevated expression compared to normal tissues, suggesting roles in cancer proliferation 4. SEPTIN1 was identified as a diagnostic biomarker for dilated cardiomyopathy, showing altered expression correlated with immune infiltration in cardiac tissue 5. Additionally, SEPTIN1 undergoes ubiquitination by Parkin E3 ligase, potentially influencing dopamine-related neurodegeneration and apoptosis pathways 6.

Sources cited
1
SEPTIN1 is a GTPase that interacts with Aurora-B kinase, is phosphorylated at Ser248/307/315, localizes to midbody and spindle poles, and functions in cytokinesis and chromosome segregation
PMID: 16179162
2
SEPTIN1 forms a scaffold at the Golgi dependent on GM130 and centrosomal proteins that maintains Golgi integrity and promotes microtubule nucleation; SEPTIN1 depletion causes Golgi fragmentation
PMID: 30709970
3
SEPTIN1 localizes to lamellipodia in actin-dependent manner, forms complexes with SEPT4/SEPT5, and regulates cell spreading in squamous cell carcinoma
PMID: 23087102
4
SEPTIN1 is significantly overexpressed in 89% of oral squamous-cell carcinomas compared to normal tissues and premalignant lesions, suggesting involvement in cancer progression
PMID: 17912427
5
SEPTIN1 was identified as one of six diagnostic biomarker genes for dilated cardiomyopathy with expression associated with immune infiltration
PMID: 38168558
6
SEPTIN1 is ubiquitinated by Parkin E3 ligase and interacts with Syntaxin, implicating roles in exocytosis and dopamine-related neurodegeneration
PMID: 17456438
Disease Associationsⓘ20
osteosarcomaOpen Targets
0.03Suggestive
substance abuseOpen Targets
0.02Suggestive
Miyoshi myopathyOpen Targets
0.02Suggestive
oral squamous cell carcinomaOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
melanomaOpen Targets
0.01Suggestive
mood disorderOpen Targets
0.01Suggestive
psychosisOpen Targets
0.01Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
Townes-Brocks syndromeOpen Targets
0.01Suggestive
septic shockOpen Targets
0.01Suggestive
hyperuricemiaOpen Targets
0.01Suggestive
thyroid carcinomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
myopathyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SEPTIN2Protein interaction99%SEPTIN11Protein interaction87%SEPTIN10Protein interaction84%SEPTIN5Protein interaction81%SEPTIN3Protein interaction78%SEPTIN8Protein interaction77%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
62%
Ovary
36%
Liver
35%
Brain
14%
Heart
11%
Gene Interaction Network
Click a node to explore
SEPTIN1SEPTIN2SEPTIN11SEPTIN10SEPTIN5SEPTIN3SEPTIN8
PROTEIN STRUCTURE
Preparing viewer…
PDB6WBE · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.33LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.04 [0.82–1.33]
RankingsWhere SEPTIN1 stands among ~20K protein-coding genes
  • #10,082of 20,598
    Most Researched41
  • #13,945of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedSEPTIN1
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Identification of cuproptosis-related genes and immune infiltration in dilated cardiomyopathy.
PMID: 38168558
Int J Cardiol · 2024
1.00
2
Septin1, a new interaction partner for human serine/threonine kinase aurora-B.
PMID: 16179162
Biochem Biophys Res Commun · 2005
0.88
3
Overexpression of Septin1: possible contribution to the development of oral cancer.
PMID: 17912427
Int J Oncol · 2007
0.75
4
Proteomics investigation of human sera for determination of postoperative indicators of pulmonary cystic echinococcosis.
PMID: 36631795
J Cardiothorac Surg · 2023
0.63
5
Drosophila melanogaster Parkin ubiquitinates peanut and septin1 as an E3 ubiquitin-protein ligase.
PMID: 17456438
Insect Biochem Mol Biol · 2007
0.50