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SEPT5 (septin 5)

Written2000-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other aliashCDCRel-1 (human cell division cycle regulation 1)
PNUTL1 (peanut (drosophila)- like 1)
CDCREL
AF22 (ALL1 fused gene from chromosome 22)
LocusID (NCBI) 5413
Atlas_Id 220
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at and ends at bp from pter
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) [ 6 ]
  11q23 rearrangements (KMT2A) in leukaemia
t(2;11)(q37;q23) KMT2A/SEPT2
t(X;11)(q24;q23) KMT2A/SEPT6
t(11;22)(q23;q11.2) KMT2A/SEPT5
t(11;22)(q23;q13) KMT2A/EP300
t(11;22)(q23;q11.2) KMT2A/SEPT5



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  TBX1/SEPT5 (22q11)
TBX1/SEPT5 (22q11)


External links

Nomenclature
Cards
AtlashCDCRel-1ID220.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)5413
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Tue Jun 30 20:43:27 CEST 2020

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