Endometriosis Knowledgebase

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Gene id

10801

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

SEPT9 Gene UCSC Ensembl

Aliases

AF17q25, MSF, MSF1, NAPB, PNUTL4, 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 (77281409: 77500595) Exons: 28 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 predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]

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: 65,401

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	Septin-type (295-567)
Interpro:	IPR030379 IPR027417 IPR030645 IPR016491
Prosite:	PS51719
Pfam:	PF00735
CDD:	cd01850
PDB:	4YQF 5CYO 5CYP
PDBsum:	4YQF 5CYO 5CYP
DIP:	36697
MINT:	5006676
STRING:	ENSP00000391249;

Other Databases

GeneCards: SEPT9; Malacards: SEPT9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001725	stress fiber	IDA	cellular_component
GO:0003924	GTPase activity	TAS	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:0005525	GTP binding	IEA	molecular_function
GO:0005737	cytoplasm	TAS	cellular_component
GO:0005874	microtubule	IDA	cellular_component
GO:0005930	axoneme	IDA	cellular_component
GO:0007049	cell cycle	IEA	biological_process
GO:0015629	actin cytoskeleton	IDA	cellular_component
GO:0031105	septin complex	IDA	cellular_component
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular_component
GO:0051291	protein heterooligomeriza tion	IDA	biological_process
GO:0051301	cell division	IEA	biological_process
GO:1902857	positive regulation of no n-motile cilium assembly	IMP	biological_process
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0001725	stress fiber	IDA	cellular_component
GO:0003924	GTPase activity	TAS	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:0005525	GTP binding	IEA	molecular_function
GO:0005525	GTP binding	IEA	molecular_function
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	TAS	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005874	microtubule	IDA	cellular_component
GO:0005930	axoneme	IDA	cellular_component
GO:0007049	cell cycle	IEA	biological_process
GO:0015629	actin cytoskeleton	IDA	cellular_component
GO:0031105	septin complex	IDA	cellular_component
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular_component
GO:0051291	protein heterooligomeriza tion	IDA	biological_process
GO:0051301	cell division	IEA	biological_process
GO:1902857	positive regulation of no n-motile cilium assembly	IMP	biological_process
GO:0001725	stress fiber	IDA	cellular_component
GO:0003924	GTPase activity	TAS	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	TAS	cellular_component
GO:0005874	microtubule	IDA	cellular_component
GO:0005930	axoneme	IDA	cellular_component
GO:0015629	actin cytoskeleton	IDA	cellular_component
GO:0031105	septin complex	IDA	cellular_component
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular_component
GO:0051291	protein heterooligomeriza tion	IDA	biological_process
GO:1902857	positive regulation of no n-motile cilium assembly	IMP	biological_process

KEGG pathways

hsa05100 Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
Acute myeloid leukemia	OMIM: 604061
Endometriosis	PMID: 22276910
Hereditary neuralgic amyotrophy	KEGG: H01131, OMIM: 604061
Ovarian cancer	OMIM: 604061
Endometriosis	INFBASE22276910

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22276910	Endometrio sis			100 (50 endomet riosis, 50 cont rols)		COX-2 BRAF NRAS CFL1 MAT2A SEPT9 ATAD3A CADM2 NAA15 and CCDC21	Show abstract