• Gene id: 55964

Gene Summary

• Gene Symbol: SEPTIN3   Gene   UCSC   Ensembl
• Aliases: SEP3, SEPT3, bK250D10.3
• Gene name: septin 3
• Alternate names: neuronal-specific septin-3,
• Gene location: 22q13.2 (41969442: 41998220)     Exons: 13     NC_000022.11
• Gene summary(Entrez): This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternativ

Protein Summary

• Protein general information: Q9UH03  
  • Name: Neuronal specific septin 3
  • Length: 358  
  • Mass: 40704
  • Tissue specificity: Brain-specific. {ECO
• Sequence:

  MSKGLPETRTDAAMSELVPEPRPKPAVPMKPMSINSNLLGYIGIDTIIEQMRKKTMKTGFDFNIMVVGQSGLGKS
  TLVNTLFKSQVSRKASSWNREEKIPKTVEIKAIGHVIEEGGVKMKLTVIDTPGFGDQINNENCWEPIEKYINEQY
  EKFLKEEVNIARKKRIPDTRVHCCLYFISPTGHSLRPLDLEFMKHLSKVVNIIPVIAKADTMTLEEKSEFKQRVR
  KELEVNGIEFYPQKEFDEDLEDKTENDKIRQESMPFAVVGSDKEYQVNGKRVLGRKTPWGIIEVENLNHCEFALL
  RDFVIRTHLQDLKEVTHNIHYETYRAKRLNDNGGLPPGEGLLGTVLPPVPATPCPTAE

• Structural information:
  • Protein Domains: (58..33-)
    (/note="Septin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01056"-)
  • Interpro: IPR030379  IPR027417  IPR016491  IPR008114  
  • Prosite: PS51719
  • CDD: cd01850
  • PDB: 3SOP 4Z51 4Z54
  • PDBsum: 3SOP 4Z51 4Z54
  • STRING: ENSP00000379704
• Other Databases: GeneCards:  SEPTIN3  Malacards:  SEPTIN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061640	cytoskeleton-dependent cytokinesis	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0032153	cell division site	IBA	cellular component
GO:0015630	microtubule cytoskeleton	IBA	cellular component
GO:0005940	septin ring	IBA	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0099569	presynaptic cytoskeleton	IBA	cellular component
GO:0060090	molecular adaptor activity	IBA	molecular function
GO:0034613	cellular protein localization	IBA	biological process
GO:0031105	septin complex	IBA	cellular component
GO:0098793	presynapse	ISS	cellular component
GO:0031105	septin complex	ISS	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa05100	Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R