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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)


Other aliashCDCRel-1 (human cell division cycle regulation 1)
PNUTL1 (peanut (drosophila)- like 1)
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 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)


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


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 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


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


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 :

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

HGNC (Hugo)-   -
Entrez_Gene (NCBI)SEPT5  5413  -
GeneCards (Weizmann)SEPT5
Ensembl hg19 (Hinxton)ENSG00000184702 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184702 [Gene_View]  ENSG00000184702 [Sequence]  chr22:19714464-19723322 [Contig_View]  SEPT5 [Vega]
ICGC DataPortalENSG00000184702
TCGA cBioPortalSEPT5
Genatlas (Paris)SEPT5
SOURCE (Princeton)SEPT5
Genetics Home Reference (NIH)SEPT5
Genomic and cartography
GoldenPath hg38 (UCSC)SEPT5  -     chr22:19714464-19723322 +  -   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEPT5  -     -   [Description]    (hg19-Feb_2009)
GoldenPathSEPT5 - - [CytoView hg19]  SEPT5 - - [CytoView hg38]
Mapping of homologs : NCBISEPT5 [Mapview hg19]  SEPT5 [Mapview hg38]
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEPT5
Alternative Splicing GalleryENSG00000184702
Gene ExpressionSEPT5 [ NCBI-GEO ]   SEPT5 [ EBI - ARRAY_EXPRESS ]   SEPT5 [ SEEK ]   SEPT5 [ MEM ]
Gene Expression Viewer (FireBrowse)SEPT5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)5413
GTEX Portal (Tissue expression)SEPT5
Human Protein AtlasENSG00000184702-SEPT5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)SEPT5
DMDM Disease mutations5413
Blocks (Seattle)SEPT5
Human Protein Atlas [tissue]ENSG00000184702-SEPT5 [tissue]
IPIIPI00017731   IPI00383573   IPI00043524   IPI00792072   IPI00789164   IPI00879616   IPI00879438   IPI00880201   IPI00880039   IPI00797457   IPI00877708   
Protein Interaction databases
Ontologies - Pathways
Huge Navigator - [HugePedia]
snp3D : Map Gene to Disease5413
BioCentury BCIQSEPT5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5413
Clinical trialSEPT5
canSAR (ICR)SEPT5 (select the gene name)
DataMed IndexSEPT5
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 21:26:34 CET 2019

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