SEPTIN1 (septin 1)

Gene

• Entrez ID: 1731
• Gene name: Septin 1
• Gene symbol: SEPTIN1
• Synonyms (NCBI Gene): DIFF6, LARP, PNUTL3, SEP1, SEPT1, Septin-1
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to th

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0005515	Function	Protein binding	IPI	16179162, 16189514, 21988832, 24722188, 25416956, 26871637, 28514442, 31515488, 32296183, 33961781
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005940	Component	Septin ring	IBA
GO:0007056	Process	Spindle assembly involved in female meiosis	IEA
GO:0008021	Component	Synaptic vesicle	IBA
GO:0008104	Process	Intracellular protein localization	IBA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0017157	Process	Regulation of exocytosis	IBA
GO:0030496	Component	Midbody	IDA	19799413
GO:0030496	Component	Midbody	IEA
GO:0031105	Component	Septin complex	IBA
GO:0032153	Component	Cell division site	IBA
GO:0042802	Function	Identical protein binding	IPI	16189514, 25416956, 32296183
GO:0051301	Process	Cell division	IEA
GO:0051311	Process	Meiotic metaphase chromosome alignment	IEA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	IBA
GO:0072687	Component	Meiotic spindle	IEA

Other IDs

• MIM: 612897
• HGNC: 2879
• e!Ensembl: ENSG00000180096

Protein

• UniProt ID: Q8WYJ6
• Protein name: Septin-1 (LARP) (Peanut-like protein 3) (Serologically defined breast cancer antigen NY-BR-24)
• Protein function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).
• PDB: 6WBE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00735	Septin	22 → 303	Septin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at high levels in lymphoid and hematopoietic tissues. {ECO:0000269|PubMed:15915442}.
• Sequence:

  MDKEYVGFAALPNQLHRKSVKKGFDFTLMVAGESGLGKSTLINSLFLTNLYEDRQVPEAS
  ARLTQTLAIERRGVEIEEGGVKVKLTLVDTPGFGDSVDCSDCWLPVVKFIEEQFEQYLRD
  ESGLNRKNIQDSRVHCCLYFISPFGRGLRPLDVAFLRAVHEKVNIIPVIGKADALMPQET
  QALKQKIRDQLKEEEIHIYQFPECDSDEDEDFKRQDAEMKESIPFAVVGSCEVVRDGGNR
  PVRGRRYSWGTVEVENPHHCDFLNLRRMLVQTHLQDLKEVTHDLLYEGYRARCLQSLARP
  GARDRASRSKLSRQSATEIPLPMLPLADTEKLIREKDEELRRMQEMLEKMQAQMQQSQAQ
  GEQSDAL

• Sequence length: 367

Pathways

KEGG:

Bacterial invasion of epithelial cells

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cerebrovascular accident	Stroke	BEFREE	29887162, 30585827		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31678062		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	17912427		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	17912427		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17912427		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	25209738		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30585827		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12426100		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	14580940		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12426100		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	9811347		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29048513, 29459977, 29804795, 29932042, 30015667, 31301874, 31369426, 31400737		★☆☆☆☆ Found in Text Mining only