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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 nameshCDCRel-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 19705958 and ends at 19710845 bp from pter ( according to hg19-Feb_2009)  [Mapping SEPT5.png]
Fusion genes
(updated 2016)
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) --> MLL - hCDCRel-1
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) [ 5 ]
  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

External links

HGNC (Hugo)Sep-05   9164
Entrez_Gene (NCBI)SEPT5  5413  septin 5
GeneCards (Weizmann)SEPT5
Ensembl hg19 (Hinxton)ENSG00000184702 [Gene_View]  chr22:19705958-19710845 [Contig_View]  SEPT5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000184702 [Gene_View]  chr22:19705958-19710845 [Contig_View]  SEPT5 [Vega]
ICGC DataPortalENSG00000184702
TCGA cBioPortalSEPT5
Genatlas (Paris)SEPT5
SOURCE (Princeton)SEPT5
Genomic and cartography
GoldenPath hg19 (UCSC)SEPT5  -     chr22:19705958-19710845 +  22q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SEPT5  -     22q11.2   [Description]    (hg38-Dec_2013)
EnsemblSEPT5 - 22q11.2 [CytoView hg19]  SEPT5 - 22q11.2 [CytoView hg38]
Mapping of homologs : NCBISEPT5 [Mapview hg19]  SEPT5 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK056273 AK295940 BC025261 BI601927 BQ448147
RefSeq transcript (Entrez)NM_001009939 NM_002688
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011520 NW_004929429
Consensus coding sequences : CCDS (NCBI)SEPT5
Cluster EST : UnigeneHs.728762 [ NCBI ]
CGAP (NCI)Hs.728762
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5413
GTEX Portal (Tissue expression)SEPT5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99719 (Uniprot)
NextProtQ99719  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99719
Splice isoforms : SwissVarQ99719 (Swissvar)
Domaine pattern : Prosite (Expaxy)G_SEPTIN (PS51719)   
Domains : Interpro (EBI)G_SEPTIN_dom    P-loop_NTPase    Septin   
Domain families : Pfam (Sanger)Septin (PF00735)   
Domain families : Pfam (NCBI)pfam00735   
DMDM Disease mutations5413
Blocks (Seattle)SEPT5
Human Protein AtlasENSG00000184702
Peptide AtlasQ99719
IPIIPI00017731   IPI00383573   IPI00043524   IPI00792072   IPI00789164   IPI00879616   IPI00879438   IPI00880201   IPI00880039   IPI00797457   IPI00877708   
Protein Interaction databases
IntAct (EBI)Q99719
Ontologies - Pathways
Ontology : AmiGOcytokinesis  GTPase activity  structural molecule activity  protein binding  GTP binding  cytoskeleton  plasma membrane  cell cortex  synaptic vesicle  synaptic vesicle targeting  regulation of exocytosis  syntaxin binding  terminal bouton  positive regulation of exocytosis  regulation of synaptic vesicle exocytosis  
Ontology : EGO-EBIcytokinesis  GTPase activity  structural molecule activity  protein binding  GTP binding  cytoskeleton  plasma membrane  cell cortex  synaptic vesicle  synaptic vesicle targeting  regulation of exocytosis  syntaxin binding  terminal bouton  positive regulation of exocytosis  regulation of synaptic vesicle exocytosis  
Pathways : BIOCARTARole of Parkin in the Ubiquitin-Proteasomal Pathway [Genes]   
Pathways : KEGGParkinson's disease   
NDEx NetworkSEPT5
Atlas of Cancer Signalling NetworkSEPT5
Wikipedia pathwaysSEPT5
Orthology - Evolution
GeneTree (enSembl)ENSG00000184702
Phylogenetic Trees/Animal Genes : TreeFamSep-05
Homologs : HomoloGeneSEPT5
Homology/Alignments : Family Browser (UCSC)SEPT5
Gene fusions - Rearrangements
Fusion : MitelmanTBX1/SEPT5 [22q11.21/22q11.21]  [t(22;22)(q11;q11)]  
Fusion : COSMICKMT2A [11q23.3]  -  SEPT5 [22q11.21]  [fusion_1844]  [fusion_1845]  
Fusion: TCGATBX1 22q11.21 SEPT5 22q11.21 LUAD
Fusion : TICdbKMT2A [11q23.3]  -  SEPT5 [22q11.21]
Polymorphisms : SNP, variants
NCBI Variation ViewerSEPT5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEPT5
Exome Variant ServerSEPT5
ExAC (Exome Aggregation Consortium)SEPT5 (select the gene name)
Genetic variants : HAPMAP5413
Genomic Variants (DGV)SEPT5 [DGVbeta]
ICGC Data PortalSep-05 
TCGA Data PortalSep-05 
Broad Tumor PortalSep-05
OASIS PortalSep-05 [ Somatic mutations - Copy number]
Cancer Gene: CensusSEPT5 
Somatic Mutations in Cancer : COSMICSEPT5 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SEPT5
DgiDB (Drug Gene Interaction Database)SEPT5
DoCM (Curated mutations)SEPT5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEPT5 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)22:19705958-19710845  ENSG00000184702
CONAN: Copy Number AnalysisSEPT5 
Mutations and Diseases : HGMDSep-05
Genetic Testing Registry SEPT5
NextProtQ99719 [Medical]
Huge Navigator Sep-05 [HugePedia]
snp3D : Map Gene to Disease5413
BioCentury BCIQSEPT5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5413
Chemical/Pharm GKB GenePA33486
Clinical trialSEPT5
canSAR (ICR)SEPT5 (select the gene name)
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Sep 28 16:04:42 CEST 2016

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