| Written | 2000-04 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| Other alias | hCDCRel-1 (human cell division cycle regulation 1) |
| PNUTL1 (peanut (drosophila)- like 1) | |
| CDCREL | |
| AF22 (ALL1 fused gene from chromosome 22) | |
| HGNC (Hugo) | SEPT5 |
| LocusID (NCBI) | 5413 |
| Atlas_Id | 220 |
| Location | 22q11.21 [Link to chromosome band 22q11] |
| Location_base_pair | Starts at 19714464 and ends at 19723322 bp from pter ( according to hg19-Feb_2009) [Mapping SEPT5.png] |
| Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
| GNB1L (22q11.21) / SEPT5 (22q11.21) | KMT2A (11q23.3) / SEPT5 (22q11.21) | SEPT5 (22q11.21) / KMT2A (11q23.3) | |
| SEPT5 (22q11.21) / LOC100507412 (-) | SEPT5 (22q11.21) / OS9 (12q13.3) | TBX1 (22q11.21) / SEPT5 (22q11.21) | |
| 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 5'of 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 |
| Protein |
| 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 |
| Note | |
| Entity | t(11;22)(q23;q11) acute non lymphocytic leukemia (AML) --> KMT2A - SEPT5 |
| Disease | M4, M2, and M1 AML |
| Hybrid/Mutated Gene | 5' MLL - 3' hCDCRel, with fusion of MLL exon 7 to hCDCRel exon 3 |
| Abnormal Protein | NH2 - AT hook and DNA methyltransferase from MLL fused to hCDCREL-1 - COOH |
| Bibliography |
| Localization of a novel septin protein, hCDCrel-1, in neurons of human brain. |
| Caltagarone J, Rhodes J, Honer WG, Bowser R |
| Neuroreport. 1998 ; 9 (12) : 2907-2912. |
| PMID 9760144 |
| A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. |
| McKie JM, Sutherland HF, Harvey E, Kim UJ, Scambler PJ |
| Human genetics. 1997 ; 101 (1) : 6-12. |
| PMID 9385360 |
| Structure and expression of the human septin gene HCDCREL-1. |
| Yagi M, Zieger B, Roth GJ, Ware J |
| Gene. 1998 ; 212 (2) : 229-236. |
| PMID 9611266 |
| Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence. |
| Zieger B, Hashimoto Y, Ware J |
| The Journal of clinical investigation. 1997 ; 99 (3) : 520-525. |
| PMID 9022087 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| SEPT5 (septin 5) |
| Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):63-63. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/hCDCRel-1ID220.html |
| Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ] |
|
t(11;22)(q23;q11.2) KMT2A/SEPT5
|
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ] |
|
TBX1/SEPT5 (22q11)
|
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Nov 13 21:26:34 CET 2019 |
For comments and suggestions or contributions, please contact us