• Gene id: 5413

Gene Summary

• Gene Symbol: SEPTIN5   Gene   UCSC   Ensembl
• Aliases: CDCREL, CDCREL-1, CDCREL1, H5, HCDCREL-1, PNUTL1, SEPT5
• Gene name: septin 5
• Alternate names: septin-5, cell division control related protein 1, peanut-like 1, platelet glycoprotein Ib beta chain,
• Gene location: 22q11.21 (19714502: 19723318)     Exons: 13     NC_000022.11
• Gene summary(Entrez): 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 orga
• OMIM: 611657

Protein Summary

• Protein general information: Q99719  
  • Name: Septin 5 (Cell division control related protein 1) (CDCrel 1) (Peanut like protein 1)
  • Length: 369  
  • Mass: 42777
  • Tissue specificity: Expressed at high levels in the CNS, as well as in heart and platelets (at protein level). {ECO
• Sequence:

  MSTGLRYKSKLATPEDKQDIDKQYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVHSLFLTDLYKDRKL
  LSAEERISQTVEILKHTVDIEEKGVKLKLTIVDTPGFGDAVNNTECWKPITDYVDQQFEQYFRDESGLNRKNIQD
  NRVHCCLYFISPFGHGLRPVDVGFMKALHEKVNIVPLIAKADCLVPSEIRKLKERIREEIDKFGIHVYQFPECDS
  DEDEDFKQQDRELKESAPFAVIGSNTVVEAKGQRVRGRLYPWGIVEVENQAHCDFVKLRNMLIRTHMHDLKDVTC
  DVHYENYRAHCIQQMTSKLTQDSRMESPIPILPLPTPDAETEKLIRMKDEELRRMQEMLQRMKQQMQDQ

• Structural information:
  • Protein Domains: (41..31-)
    (/note="Septin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01056"-)
  • Interpro: IPR030379  IPR027417  IPR030647  IPR016491  
  • Prosite: PS51719
  • CDD: cd01850
  • DIP: 31201
  • STRING: ENSP00000391311
• Other Databases: GeneCards:  SEPTIN5  Malacards:  SEPTIN5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	TAS	molecular function
GO:0005198	structural molecule activity	TAS	molecular function
GO:0042802	identical protein binding	IPI	molecular function
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: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:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008021	synaptic vesicle	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0017157	regulation of exocytosis	IMP	biological process
GO:0016080	synaptic vesicle targeting	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:2000300	regulation of synaptic vesicle exocytosis	TAS	biological process
GO:0061640	cytoskeleton-dependent cytokinesis	IBA	biological process
GO:0032153	cell division site	IBA	cellular component
GO:0017157	regulation of exocytosis	IBA	biological process
GO:0015630	microtubule cytoskeleton	IBA	cellular component
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0005940	septin ring	IBA	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0060090	molecular adaptor activity	IBA	molecular function
GO:0034613	cellular protein localization	IBA	biological process
GO:0031105	septin complex	IBA	cellular component
GO:0035176	social behavior	ISS	biological process
GO:0031105	septin complex	ISS	cellular component
GO:0030534	adult behavior	ISS	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0017157	regulation of exocytosis	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05012	Parkinson disease

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq