• Gene id: 10801

Gene Summary

• Gene Symbol: SEPTIN9   Gene   UCSC   Ensembl
• Aliases: AF17q25, MSF, MSF1, NAPB, PNUTL4, SEPT9, SINT1, SeptD1
• Gene name: septin 9
• Alternate names: septin-9, MLL septin-like fusion protein MSF-A, Ov/Br septin, ovarian/breast septin, septin D1,
• Gene location: 17q25.3 (77281498: 77500595)     Exons: 21     NC_000017.11
• Gene summary(Entrez): This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial p
• OMIM: 604061

Protein Summary

• Protein general information: Q9UHD8  
  • Name: Septin 9 (MLL septin like fusion protein MSF A) (MLL septin like fusion protein) (Ovarian/Breast septin) (Ov/Br septin) (Septin D1)
  • Length: 586  
  • Mass: 65401
  • Tissue specificity: Widely expressed. Isoforms are differentially expressed in testes, kidney, liver heart, spleen, brain, peripheral blood leukocytes, skeletal muscle and kidney. Specific isoforms appear to demonstrate tissue specificity. Isoform 5 is th
• Sequence:

  MKKSYSGGTRTSSGRLRRLGDSSGPALKRSFEVEEVETPNSTPPRRVQTPLLRATVASSTQKFQDLGVKNSEPSA
  RHVDSLSQRSPKASLRRVELSGPKAAEPVSRRTELSIDISSKQVENAGAIGPSRFGLKRAEVLGHKTPEPAPRRT
  EITIVKPQESAHRRMEPPASKVPEVPTAPATDAAPKRVEIQMPKPAEAPTAPSPAQTLENSEPAPVSQLQSRLEP
  KPQPPVAEATPRSQEATEAAPSCVGDMADTPRDAGLKQAPASRNEKAPVDFGYVGIDSILEQMRRKAMKQGFEFN
  IMVVGQSGLGKSTLINTLFKSKISRKSVQPTSEERIPKTIEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENC
  WQPIMKFINDQYEKYLQEEVNINRKKRIPDTRVHCCLYFIPATGHSLRPLDIEFMKRLSKVVNIVPVIAKADTLT
  LEERVHFKQRITADLLSNGIDVYPQKEFDEDSEDRLVNEKFREMIPFAVVGSDHEYQVNGKRILGRKTKWGTIEV
  ENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAYRVKRLNEGSSAMANGMEEKEPEAPEM

• Structural information:
  • Protein Domains: (295..56-)
    (/note="Septin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01056"-)
  • Interpro: IPR030379  IPR027417  IPR030645  IPR016491  
  • Prosite: PS51719
  • CDD: cd01850
  • PDB: 4YQF 5CYO 5CYP
  • PDBsum: 4YQF 5CYO 5CYP
  • DIP: 36697
  • STRING: ENSP00000391249
• Other Databases: GeneCards:  SEPTIN9  Malacards:  SEPTIN9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IBA	molecular function
GO:0005940	septin ring	IBA	cellular component
GO:0015630	microtubule cytoskeleton	IBA	cellular component
GO:0032153	cell division site	IBA	cellular component
GO:0061640	cytoskeleton-dependent cytokinesis	IBA	biological process
GO:0031105	septin complex	IBA	cellular component
GO:0034613	cellular protein localization	IBA	biological process
GO:0060090	molecular adaptor activity	IBA	molecular function
GO:0031105	septin complex	ISS	cellular component
GO:0005525	GTP binding	IEA	molecular function
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:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
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:0031105	septin complex	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0031105	septin complex	IDA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:1902857	positive regulation of non-motile cilium assembly	IMP	biological process
GO:0097730	non-motile cilium	IDA	cellular component
GO:0005874	microtubule	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0031105	septin complex	IDA	cellular component
GO:0001725	stress fiber	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Hereditary neuralgic amyotrophy	KEGG:H01131
Hereditary neuralgic amyotrophy	KEGG:H01131
Brachial plexus neuritis	PMID:16186812
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)