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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 22q11.2
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
Entrez_Gene (NCBI)SEPT5  5413  septin 5
Cards
AtlashCDCRel-1ID220
GeneCards (Weizmann)SEPT5
Ensembl (Hinxton)ENSG00000184702 [Gene_View]  chr22:19705958-19710845 [Contig_View]  SEPT5 [Vega]
AceView (NCBI)SEPT5
Genatlas (Paris)SEPT5
euGene (Indiana)5413
SOURCE (Stanford)NM_001009939 NM_002688
Genomic and cartography
GoldenPath (UCSC)SEPT5  -  22q11.2   chr22:19705958-19710845 +  22q11.21   [Description]    (hg19-Feb_2009)
EnsemblSEPT5 - 22q11.21 [CytoView]
Mapping of homologs : NCBISEPT5 [Mapview]
OMIM602724   
Gene and transcription
Genbank (Entrez)AF061154 AK056273 AK295940 BC025261 BI601927
RefSeq transcript (SRS)NM_001009939 NM_002688
RefSeq transcript (Entrez)NM_001009939 NM_002688
RefSeq genomic (SRS)AC_000154 NC_000022 NG_007974 NT_011519 NW_001838737
RefSeq genomic (Entrez)AC_000154 NC_000022 NG_007974 NT_011519 NW_001838737
Consensus coding sequences : CCDS (NCBI)SEPT5
Cluster EST : UnigeneHs.731401 [ SRS ] Hs.731401 [ NCBI ]
Alternative Splicing : Fast-db (Paris)1308
Alternative Splicing GalleryENSG00000184702
Gene ExpressionSEPT5 [ NCBI-GEO ]   SEPT5 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99719 (SRS) Q99719 (Uniprot)
With graphics : InterProQ99719
Splice isoforms : SwissVarQ99719(Swissvar)
Domains : Interpro (SRS)Cell_div_GTP-bd    Septin   
Domains : Interpro (EBI)Cell_div_GTP-bd    Septin   
Related proteins : CluSTrQ99719
Domain families : Pfam (SRS)Septin (PF00735)   
Domain families : Pfam (Sanger)Septin (PF00735)   
Domain families : Pfam (NCBI)pfam00735   
Blocks (Seattle)Q99719
Human Protein AtlasENSG00000184702
HPRD04100
IPIIPI00017731   IPI00383573   IPI00043524   IPI00792072   IPI00789164   IPI00879616   IPI00879438   IPI00880201   IPI00880039   IPI00797457   IPI00877708   
Protein Interaction databases
DIP (DOE-UCLA)Q99719
IntAct (EBI)Q99719
FunCoupENSG00000184702
REACTOMESEPT5
BioGRIDSEPT5
InParanoidQ99719
Interologous Interaction database Q99719
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SEPT5
SNP (GeneSNP Utah)SEPT5
SNP : HGBaseSEPT5
Genetic variants : HAPMAPSEPT5
Somatic Mutations in Cancer : COSMICSEPT5 
CONAN: Copy Number AnalysisSEPT5 
Mutations and Diseases : HGMDSEPT5
OMIM602724   
GENETests602724   
Disease Genetic AssociationSEPT5
Huge Navigator SEPT5 [HugePedia]  SEPT5 [HugeCancerGEM]
Genomic VariantsSEPT5
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
Ontology : AmiGOnucleotide binding  cytokinesis  GTPase activity  structural molecule activity  protein binding  GTP binding  cytoplasm  cytoskeleton  plasma membrane  cell cortex  GTP catabolic process  cell cycle  synaptic vesicle  synaptic vesicle targeting  regulation of exocytosis  synaptosome  septin complex  terminal button  
Ontology : EGO-EBInucleotide binding  cytokinesis  GTPase activity  structural molecule activity  protein binding  GTP binding  cytoplasm  cytoskeleton  plasma membrane  cell cortex  GTP catabolic process  cell cycle  synaptic vesicle  synaptic vesicle targeting  regulation of exocytosis  synaptosome  septin complex  terminal button  
Pathways : BIOCARTARole of Parkin in the Ubiquitin-Proteasomal Pathway [Genes]   
Pathways : KEGGParkinson's disease
Other databases
Probes
Probes : ImagenesSEPT5 Related clones (RZPD - Berlin)
Litterature
PubMed32 Pubmed reference(s) in Entrez
PubGeneSEPT5
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

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37612/1/04-2000-hCDCRel-1ID220.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 15:11:07 CEST 2012
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