• Gene id: 1731

Gene Summary

• Gene Symbol: SEPTIN1   Gene   UCSC   Ensembl
• Aliases: DIFF6, LARP, PNUTL3, SEP1, SEPT1
• Gene name: septin 1
• Alternate names: septin-1, differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase), peanut-like protein 3, serologically defined breast cancer antigen NY-BR-24,
• Gene location: 16p11.2 (30382829: 30378134)     Exons: 10     NC_000016.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q8WYJ6  
  • Name: Septin 1 (LARP) (Peanut like protein 3) (Serologically defined breast cancer antigen NY BR 24)
  • Length: 367  
  • Mass: 41971
  • Tissue specificity: Expressed at high levels in lymphoid and hematopoietic tissues. {ECO
• Sequence:

  MDKEYVGFAALPNQLHRKSVKKGFDFTLMVAGESGLGKSTLINSLFLTNLYEDRQVPEASARLTQTLAIERRGVE
  IEEGGVKVKLTLVDTPGFGDSVDCSDCWLPVVKFIEEQFEQYLRDESGLNRKNIQDSRVHCCLYFISPFGRGLRP
  LDVAFLRAVHEKVNIIPVIGKADALMPQETQALKQKIRDQLKEEEIHIYQFPECDSDEDEDFKRQDAEMKESIPF
  AVVGSCEVVRDGGNRPVRGRRYSWGTVEVENPHHCDFLNLRRMLVQTHLQDLKEVTHDLLYEGYRARCLQSLARP
  GARDRASRSKLSRQSATEIPLPMLPLADTEKLIREKDEELRRMQEMLEKMQAQMQQSQAQGEQSDAL

• Structural information:
  • Protein Domains: (22..29-)
    (/note="Septin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01056"-)
  • Interpro: IPR030379  IPR027417  IPR016491  
  • Prosite: PS51719
  • CDD: cd01850
  • STRING: ENSP00000324511
• Other Databases: GeneCards:  SEPTIN1  Malacards:  SEPTIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0030496	midbody	IDA	cellular component
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: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:0005737	cytoplasm	IEA	cellular component
GO:0030496	midbody	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05100	Bacterial invasion of epithelial cells

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881