SEPT5 (septin 5)
2000-04-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
CDCREL,CDCREL-1,CDCREL1,H5,HCDCREL-1,PNUTL1,SEPT5
FUSION GENES
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
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 ID | Last Year | Title | Authors |
|---|---|---|---|
| 9760144 | 1998 | Localization of a novel septin protein, hCDCrel-1, in neurons of human brain. | Caltagarone J et al |
| 9385360 | 1997 | A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. | McKie JM et al |
| 9611266 | 1998 | Structure and expression of the human septin gene HCDCREL-1. | Yagi M et al |
| 9022087 | 1997 | Alternative 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
