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septin-9 (MLL septin-like fusion protein, MLL septin-like fusion protein MSF-A, ovarian/Breast septin, Ov/Br septin, septin D1, SEPT9, KIAA0991, MSF)
Function:
- role in cytokinesis (putative)
- role as ovarian tumor suppressor
- interacts with RTKN
Structure: belongs to the septin family
Compartment: cell membrane
Alternative splicing: named isoforms=6
Expression:
- expressed ubiquitously
- isoforms are differentialy expressed in testes, kidney, liver, heart, spleen, brain, peripheral blood leukocytes, skeletal muscle, 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 & thymus
- isoforms 2, 3, & 4 are detected at low levels in half of fetal tissues
Pathology:
- chromosomal translocation t(11;17)(q23;q25) involving SEPT9 with MLL is found in therapy-related acute myeloid leukemia
Laboratory:
- plasma methylated Septin 9 DNA (Epi proColon) has been recommended for FDA-approval for colon cancer screening March 2014
Related
plasma methylated Septin 9 DNA (Epi proColon)
SEPT9 gene methylation
SEPT9 gene mutation
General
anti-oncoprotein (tumor suppressor protein)
membrane protein
phosphoprotein
Properties
SIZE: MW = 65 kD
entity length = 586 aa
COMPARTMENT: cellular membrane
MOTIF: Ser phosphorylation site {S30}
Thr phosphorylation site {T42}
Thr phosphorylation site {T49}
GTP-binding site
SITE: 305-312
Database Correlations
OMIM 604061
MORBIDMAP 604061
UniProt Q9UHD8
Pfam PF00735
References
- UniProt :accession Q9UHD8
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
http://atlasgeneticsoncology.org/Genes/MSFID208.html
- Young K
Physician's First Watch, March 27, 2014
David G. Fairchild, MD, MPH, Editor-in-Chief
Massachusetts Medical Society
http://www.jwatch.org