SEPTIN7 (septin 7)

Gene

• Entrez ID: 989
• Gene name: Septin 7
• Gene symbol: SEPTIN7
• Synonyms: CDC10, CDC3, NBLA02942, SEPT7, SEPT7A, Septin-7
• Chromosome: 7
• Chromosome location: 7p14.2
• Summary: This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a G

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000777	Component	Condensed chromosome kinetochore	IEA
GO:0001725	Component	Stress fiber	IDA	15485874
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0005198	Function	Structural molecule activity	TAS	8037772
GO:0005515	Function	Protein binding	IPI	11584266, 15485874, 17637674, 17685441, 24633326, 25588830, 30021884, 31515488
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IDA	15485874
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005930	Component	Axoneme	IDA	23572511
GO:0005930	Component	Axoneme	ISS
GO:0005940	Component	Septin ring	IBA	21873635
GO:0007283	Process	Spermatogenesis	IEA
GO:0015630	Component	Microtubule cytoskeleton	IBA	21873635
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016476	Process	Regulation of embryonic cell shape	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030496	Component	Midbody	IEA
GO:0031105	Component	Septin complex	IBA	21873635
GO:0031105	Component	Septin complex	IDA	15485874, 23572511, 25588830
GO:0032153	Component	Cell division site	IBA	21873635
GO:0032154	Component	Cleavage furrow	IEA
GO:0034613	Process	Cellular protein localization	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	22064074
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0060090	Function	Molecular adaptor activity	IBA	21873635
GO:0060271	Process	Cilium assembly	IBA	21873635
GO:0060271	Process	Cilium assembly	ISS
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0097227	Component	Sperm annulus	IDA	25588830
GO:0097730	Component	Non-motile cilium	IDA	23572511
GO:1902857	Process	Positive regulation of non-motile cilium assembly	IMP	23572511

Other IDs

• MIM: 603151
• HGNC: 1717
• e!Ensembl: ENSG00000122545

Protein

• UniProt ID: Q16181
• Protein name: Septin-7 (CDC10 protein homolog)
• Protein function: Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role
• PDB: 2QAG, 3T5D, 3TW4, 6N0B, 6N12, 6UQQ, 7M6J, 8SJJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00735	Septin	47 → 323	Septin	Domain

• Sequence:

  MSVSARSAAAEERSVNSSTMVAQQKNLEGYVGFANLPNQVYRKSVKRGFEFTLMVVGESG
  LGKSTLINSLFLTDLYSPEYPGPSHRIKKTVQVEQSKVLIKEGGVQLLLTIVDTPGFGDA
  VDNSNCWQPVIDYIDSKFEDYLNAESRVNRRQMPDNRVQCCLYFIAPSGHGLKPLDIEFM
  KRLHEKVNIIPLIAKADTLTPEECQQFKKQIMKEIQEHKIKIYEFPETDDEEENKLVKKI
  KDRLPLAVVGSNTIIEVNGKRVRGRQYPWGVAEVENGEHCDFTILRNMLIRTHMQDLKDV
  TNNVHYENYRSRKLAAVTYNGVDNNKNKGQLTKSPLAQMEEERREHVAKMKKMEMEMEQV
  FEMKVKEKVQKLKDSEAELQRRHEQMKKNLEAQHKELEEKRRQFEDEKANWEAQQRILEQ
  QNSSRTLEKNKKKGKIF

• Sequence length: 437

Pathways

KEGG:

Shigellosis

Reactome:

MAPK6/MAPK4 signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21772061, 20385374