SEPT6 (septin 6)
2002-12-01 Uta Fuchs , Arndt Borkhardt AffiliationChildrens University Hospital Giessen, Hematology & Oncology, Feulgenstr. 12, 35392 Giessen, Germany
Identity
HGNC
LOCATION
Xq24
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
KIAA0128
FUSION GENES
DNA/RNA
Description
12 Exons
Transcription
Four types of transcripts: 2,3kb, 2,7kb, 3,1kb and 4,6kb coding for three isoforms.
Proteins
Description
Isoform A: 427 amino acids; 46,9 kDa.
Isoform B: 434 amino acids; 49,7 kDa.
Isoform D: 429 amino acids; 47,2 kDa.
Isoform B: 434 amino acids; 49,7 kDa.
Isoform D: 429 amino acids; 47,2 kDa.
Expression
Ubiquitously expressed; highest levels in placenta, lung, kidney and testes, the 2,7kb transcript can be found only in fetal heart and adult brain tissue.
Localisation
Cytoplasmatic
Function
The conserved septin protein family was first identified in yeast and subsequently shown to play an important role in cytoskeletal organization and cytokinesis.
Implicated in
Entity name
acute myloid leukemia
Disease
AML-M2 and M4
Cytogenetics
ins(X;11)(q24;q23)
ins(X;11)(q22;q13q25)
Hybrid gene
MLL-Septin 6
Fusion protein
MLL exons 1 to 8 - Septin 6 exon 2 to end
Oncogenesis
basically unknown
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11477664 | 2001 | An ins(X;11)(q24;q23) fuses the MLL and the Septin 6/KIAA0128 gene in an infant with AML-M2. | Borkhardt A et al |
| 10481176 | 1999 | Septins: cytoskeletal polymers or signalling GTPases? | Field CM et al |
| 11809673 | 2002 | SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24. | Ono R et al |
| 12096348 | 2002 | MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site. | Slater DJ et al |
Citation
Uta Fuchs ; Arndt Borkhardt
SEPT6 (septin 6)
Atlas Genet Cytogenet Oncol Haematol. 2002-12-01
Online version: http://atlasgeneticsoncology.org/gene/376/sept6
