InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SEPT9

Summary

InnateDB Protein

IDBP-384938.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SEPT9

Protein Name

septin 9

Synonyms

AF17q25; MSF; MSF1; NAPB; PNUTL4; SeptD1; SINT1;

Species

Homo sapiens

Ensembl Protein

ENSP00000391249

InnateDB Gene

IDBG-70233 (SEPT9)

Protein Structure

UniProt Annotation

Function

Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri. {ECO:0000250, ECO:0000305}.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000269PubMed:17546647, ECO:0000269PubMed:17922164}. Note=In an epithelial cell line, concentrates at cell-cell contact areas. After TGF-beta1 treatment and induction of epithelial to mesenchymal transition, colocalizes partly with actin stress fibers. During bacterial infection, displays a collar shape structure next to actin at the pole of invading bacteria.

Disease Associations

Note=A chromosomal aberration involving SEPT9/MSF is found in therapy-related acute myeloid leukemia (t-AML). Translocation t(11;17)(q23;q25) with KMT2A/MLL1. {ECO:0000269PubMed:10339604}.Hereditary neuralgic amyotrophy (HNA) [MIM:162100]: Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition. {ECO:0000269PubMed:16186812, ECO:0000269PubMed:17546647, ECO:0000269PubMed:18492087, ECO:0000269PubMed:19451530}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 the most highly expressed in fetal tissue. Isoform 1 is detected in all tissues except the brain and thymus, while isoform 2, isoform 3, and isoform 4 are detected at low levels in approximately half of the fetal tissues. {ECO:0000269PubMed:10339604, ECO:0000269PubMed:10673329, ECO:0000269PubMed:11593400, ECO:0000269PubMed:15915442}.

Comments

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:0003924	GTPase activity
GO:0005515	protein binding
GO:0005525	GTP binding

Biological Process

GO:0006184	GTP catabolic process
GO:0007049	cell cycle
GO:0051291	protein heterooligomerization
GO:0051301	cell division

Cellular Component

GO:0001725	stress fiber
GO:0005737	cytoplasm
GO:0005874	microtubule
GO:0015629	actin cytoskeleton
GO:0031105	septin complex
GO:0048471	perinuclear region of cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR000038 Cell division protein GTP binding
IPR004881 Ribosome biogenesis GTPase RsgA, putative
IPR006703 AIG1
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00735
PF03193
PF04548

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UHD8

PhosphoSite