SEPT5 (septin 5)

2000-04-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
SEPT5
LOCATION
22q11.21
LOCUSID
5413
ALIAS
CDCREL,CDCREL-1,CDCREL1,H5,HCDCREL-1,PNUTL1,SEPT5
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

the gene spans 13 kb; 13 exons; one large intron (3.7kb) between exons 2 and 3

Transcription

two major splicings in 5 (exons 1 and 2 versus exon 3; 2032 bp mRNA; coding sequence: 1109 bp; the gene is just 5of GPIb beta (platelet membrane glycoprotein Ib beta precursor), and GPIb beta is co-expressed with hCDCRel-1; this is due to a non-consensus polyadenylation signal in 3 of hCDCRel-1

Proteins

Description

369 amino acids; GTPase activity

Expression

high level expression in brain, heart, platelets; low level expression in some other tissues

Localisation

cytoplasm

Function

see below; may have a role in the synaptic function of neurones in the brain

Homology

belong to the septin family: filament forming proteins implicated in the cytoskeleton organization; nucleotide binding proteins; hCDCRel-1 is closely related to AF17q25/MSF, also found involved in fusion protein with MLL in leukemia

Implicated in

Entity name
t(11;22)(q23;q11) acute non lymphocytic leukemia (AML) --> KMT2A - SEPT5
Disease
M4, M2, and M1 AML
Hybrid gene
5 MLL - 3 hCDCRel, with fusion of MLL exon 7 to hCDCRel exon 3
Fusion protein
NH2 - AT hook and DNA methyltransferase from MLL fused to hCDCREL-1 - COOH

Article Bibliography

Pubmed IDLast YearTitleAuthors
97601441998Localization of a novel septin protein, hCDCrel-1, in neurons of human brain.Caltagarone J et al
93853601997A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11.McKie JM et al
96112661998Structure and expression of the human septin gene HCDCREL-1.Yagi M et al
90220871997Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence.Zieger B et al

Citation

Jean-Loup Huret

SEPT5 (septin 5)

Atlas Genet Cytogenet Oncol Haematol. 2000-04-01

Online version: http://atlasgeneticsoncology.org/gene/220/sept5-(septin-5)