SEPT6 (septin 6)

2002-12-01   Uta Fuchs  , Arndt Borkhardt  

Childrens University Hospital Giessen, Hematology & Oncology, Feulgenstr. 12, 35392 Giessen, Germany

Identity

HGNC
SEPT6
LOCATION
Xq24
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
23157
ALIAS
KIAA0128
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

12 Exons

Transcription

Four types of transcripts: 2,3kb, 2,7kb, 3,1kb and 4,6kb coding for three isoforms.

Proteins

Atlas Image

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.

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
Atlas Image
Fusion protein
MLL exons 1 to 8 - Septin 6 exon 2 to end
Oncogenesis
basically unknown

Article Bibliography

Pubmed IDLast YearTitleAuthors
114776642001An ins(X;11)(q24;q23) fuses the MLL and the Septin 6/KIAA0128 gene in an infant with AML-M2.Borkhardt A et al
104811761999Septins: cytoskeletal polymers or signalling GTPases?Field CM et al
118096732002SEPTIN6, 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
120963482002MLL-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/css/js/lib/cancer-prone-explorer/