InnateDB: Systems Biology of the Innate Immune Response

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 17:77280569-77500596

Strand

Forward strand

Band

q25.3

Transcripts

ENST00000329047	ENSP00000329161
ENST00000427177	ENSP00000391249
ENST00000449803	ENSP00000400181
ENST00000423034	ENSP00000405877
ENST00000427674	ENSP00000403194
ENST00000431235	ENSP00000406987
ENST00000427180	ENSP00000415624
ENST00000541152	ENSP00000438089
ENST00000586812
ENST00000593189	ENSP00000465904
ENST00000591833	ENSP00000466684
ENST00000589246
ENST00000586433	ENSP00000468110
ENST00000590917	ENSP00000467619
ENST00000591020	ENSP00000467908
ENST00000585930	ENSP00000468120
ENST00000591088	ENSP00000466247
ENST00000592951	ENSP00000466648
ENST00000585929	ENSP00000467780
ENST00000589140	ENSP00000466997
ENST00000592420	ENSP00000467051
ENST00000589250
ENST00000590294	ENSP00000465464
ENST00000591934	ENSP00000468504
ENST00000586521	ENSP00000466170
ENST00000591472	ENSP00000468410
ENST00000591704	ENSP00000465415
ENST00000592481
ENST00000586128	ENSP00000467792
ENST00000590595	ENSP00000465026
ENST00000587514
ENST00000590825	ENSP00000468244
ENST00000590938	ENSP00000466201
ENST00000589920	ENSP00000466532
ENST00000592098
ENST00000587237
ENST00000588690	ENSP00000468668
ENST00000590586
ENST00000590576	ENSP00000465600
ENST00000588958	ENSP00000464832
ENST00000592407
ENST00000585638	ENSP00000466115
ENST00000586456
ENST00000590059	ENSP00000466164
ENST00000589070	ENSP00000465332
ENST00000588575	ENSP00000468090
ENST00000591198	ENSP00000468406

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 52 experimentally validated interaction(s) in this database.

Experimentally validated
Total	52 [view]
Protein-Protein	52 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003677	DNA binding
GO:0003924	GTPase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0005525	GTP binding

Biological Process

GO:0006184	GTP catabolic process
GO:0007049	cell cycle
GO:0007059	chromosome segregation
GO:0007264	small GTPase mediated signal transduction
GO:0051291	protein heterooligomerization
GO:0051301	cell division

Cellular Component

GO:0001725	stress fiber
GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005874	microtubule
GO:0015629	actin cytoskeleton
GO:0016021	integral component of membrane
GO:0031105	septin complex
GO:0048471	perinuclear region of cytoplasm

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000059248

View Gene Order

ENSBTAG00000002633

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa05100

Bacterial invasion of epithelial cells pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

K7EQ08

UniProt Splice Variant

Entrez Gene

10801

UniGene

Hs.440932 Hs.625337 Hs.738922

RefSeq

NM_001113491 NM_001113492 NM_001113493 NM_001113494 NM_001113495 NM_001113496 NM_001293695 NM_001293696 NM_001293697 NM_006640 XM_005256959 XM_005256962 XM_006721643 XM_006721644

HUGO

HGNC:7323

OMIM

604061

CCDS

CCDS45790 CCDS45791 CCDS45792 CCDS45793 CCDS45794 CCDS45795 CCDS74166

HPRD

10360

IMGT

EMBL

AC068594 AC111170 AC111182

GenPept

RNA Seq Atlas

10801