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SEPT5 (septin 5)

Identity

Other nameshCDCRel-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
Location 22q11.21
Location_base_pair Starts at 19705958 and ends at 19710845 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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

Entity t(11;22)(q23;q11) acute non lymphocytic leukemia (ANLL) --> MLL - hCDCRel-1
Disease M4, M2, and M1 ANLL
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
  

External links

Nomenclature
HGNC (Hugo)SEPT5   9164
Cards
AtlashCDCRel-1ID220
Entrez_Gene (NCBI)SEPT5  5413  septin 5
GeneCards (Weizmann)SEPT5
Ensembl (Hinxton)ENSG00000184702 [Gene_View]  chr22:19705958-19710845 [Contig_View]  SEPT5 [Vega]
AceView (NCBI)SEPT5
Genatlas (Paris)SEPT5
WikiGenes5413
SOURCE (Princeton)NM_001009939 NM_002688
Genomic and cartography
GoldenPath (UCSC)SEPT5  -  22q11.21   chr22:19705958-19710845 +  22q11.2   [Description]    (hg19-Feb_2009)
EnsemblSEPT5 - 22q11.2 [CytoView]
Mapping of homologs : NCBISEPT5 [Mapview]
OMIM602724   
Gene and transcription
Genbank (Entrez)AK056273 AK295940 BC025261 BI601927 BQ448147
RefSeq transcript (Entrez)NM_001009939 NM_002688
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NT_011519 NW_001838737 NW_004929429
Consensus coding sequences : CCDS (NCBI)SEPT5
Cluster EST : UnigeneHs.728762 [ NCBI ]
CGAP (NCI)Hs.728762
Alternative Splicing : Fast-db (Paris)GSHG0019832
Alternative Splicing GalleryENSG00000184702
Gene ExpressionSEPT5 [ NCBI-GEO ]     SEPT5 [ SEEK ]   SEPT5 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99719 (Uniprot)
NextProtQ99719  [Medical]
With graphics : InterProQ99719
Splice isoforms : SwissVarQ99719 (Swissvar)
Domains : Interpro (EBI)Cell_div_GTP-bd    P-loop_NTPase    Septin   
Related proteins : CluSTrQ99719
Domain families : Pfam (Sanger)Septin (PF00735)   
Domain families : Pfam (NCBI)pfam00735   
DMDM Disease mutations5413
Blocks (Seattle)Q99719
Human Protein AtlasENSG00000184702
Peptide AtlasQ99719
HPRD04100
IPIIPI00017731   IPI00383573   IPI00043524   IPI00792072   IPI00789164   IPI00879616   IPI00879438   IPI00880201   IPI00880039   IPI00797457   IPI00877708   
Protein Interaction databases
DIP (DOE-UCLA)Q99719
IntAct (EBI)Q99719
FunCoupENSG00000184702
BioGRIDSEPT5
InParanoidQ99719
Interologous Interaction database Q99719
IntegromeDBSEPT5
STRING (EMBL)SEPT5
Ontologies - Pathways
Ontology : AmiGOcytokinesis  GTPase activity  structural molecule activity  protein binding  GTP binding  plasma membrane  GTP catabolic process  synaptic vesicle  synaptic vesicle targeting  regulation of exocytosis  septin complex  terminal bouton  
Ontology : EGO-EBIcytokinesis  GTPase activity  structural molecule activity  protein binding  GTP binding  plasma membrane  GTP catabolic process  synaptic vesicle  synaptic vesicle targeting  regulation of exocytosis  septin complex  terminal bouton  
Pathways : BIOCARTARole of Parkin in the Ubiquitin-Proteasomal Pathway [Genes]   
Pathways : KEGGParkinson's disease   
REACTOMESEPT5
Protein Interaction DatabaseSEPT5
Wikipedia pathwaysSEPT5
Gene fusion - rearrangments
Rearrangement : TICdbKMT2A [11q23.3]  -  SEPT5 [22q11.21]
Rearrangement : TICdbSEPT5 [22q11.21]  -  KMT2A [11q23.3]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SEPT5
SNP (GeneSNP Utah)SEPT5
SNP : HGBaseSEPT5
Genetic variants : HAPMAPSEPT5
1000_GenomesSEPT5 
ICGC programENSG00000184702 
Somatic Mutations in Cancer : COSMICSEPT5 
CONAN: Copy Number AnalysisSEPT5 
Mutations and Diseases : HGMDSEPT5
OMIM602724   
GENETestsSEPT5
Disease Genetic AssociationSEPT5
Huge Navigator SEPT5 [HugePedia]  SEPT5 [HugeCancerGEM]
Genomic VariantsSEPT5  SEPT5 [DGVbeta]
Exome VariantSEPT5
dbVarSEPT5
ClinVarSEPT5
snp3D : Map Gene to Disease5413
General knowledge
Homologs : HomoloGeneSEPT5
Homology/Alignments : Family Browser (UCSC)SEPT5
Phylogenetic Trees/Animal Genes : TreeFamSEPT5
Chemical/Protein Interactions : CTD5413
Chemical/Pharm GKB GenePA33486
Clinical trialSEPT5
Cancer Resource (Charite)ENSG00000184702
Other databases
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
CoreMineSEPT5
iHOPSEPT5

Bibliography

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
 
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
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written04-2000Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . SEPT5 (septin 5). Atlas Genet Cytogenet Oncol Haematol. April 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/hCDCRel-1ID220.html

The various updated versions of this paper are referenced and archived by INIST as such :

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Apr 16 11:44:19 CEST 2014

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