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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)
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)

Leukemias t1122hCDCrelID1183


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]

Solid Tumors TT_t2222q11q11ID104840


External links

Nomenclature
HGNC (Hugo)-   -
Cards
AtlashCDCRel-1ID220
Entrez_Gene (NCBI)SEPT5  5413  -
Aliases
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
AceView (NCBI)SEPT5
Genatlas (Paris)SEPT5
WikiGenes5413
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]
ImmunoBaseENSG00000184702
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]
HPRD04100
IPIIPI00017731   IPI00383573   IPI00043524   IPI00792072   IPI00789164   IPI00879616   IPI00879438   IPI00880201   IPI00880039   IPI00797457   IPI00877708   
Protein Interaction databases
FunCoupENSG00000184702
BioGRIDSEPT5
STRING (EMBL)SEPT5
ZODIACSEPT5
Ontologies - Pathways
Huge Navigator - [HugePedia]
snp3D : Map Gene to Disease5413
BioCentury BCIQSEPT5
ClinGenSEPT5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5413
Clinical trialSEPT5
Miscellaneous
canSAR (ICR)SEPT5 (select the gene name)
DataMed IndexSEPT5
Probes
Litterature
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEPT5
EVEXSEPT5
GoPubMedSEPT5
iHOPSEPT5
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 26 19:00:12 CEST 2019

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jlhuret@AtlasGeneticsOncology.org.