SEPT5 (septin 5)

Identity

Other names	hCDCRel-1 (human cell division cycle regulation 1)
	PNUTL1 (peanut (drosophila)- like 1)
	CDCREL
	AF22 (ALL1 fused gene from chromosome 22)
Hugo	SEPT5
Location	22q11.2

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
Hugo	SEPT5
GDB	SEPT5
Entrez_Gene	SEPT5  5413  septin 5
	Cards
Atlas	hCDCRel-1ID220
GeneCards	SEPT5
Ensembl	SEPT5 [Search_View]   ENSG00000184702 [Gene_View]
Genatlas	SEPT5
GeneLynx	SEPT5
eGenome	SEPT5
euGene	5413
	Genomic and cartography
GoldenPath	SEPT5  -  22q11.2   chr22:18081987-18092297 +  22q11.2   [Description]    (hg18-Mar_2006)
Ensembl	SEPT5 - 22q11.2 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	SEPT5
	Gene and transcription
Genbank	AF061154 [ ENTREZ ]
Genbank	AK056273 [ ENTREZ ]
Genbank	BC025261 [ ENTREZ ]
Genbank	BC030503 [ ENTREZ ]
Genbank	CR456545 [ ENTREZ ]
RefSeq	NM_002688 [ SRS ]    NM_002688 [ ENTREZ ]
RefSeq	AC_000065 [ SRS ]    AC_000065 [ ENTREZ ]
RefSeq	AC_000154 [ SRS ]    AC_000154 [ ENTREZ ]
RefSeq	NC_000022 [ SRS ]    NC_000022 [ ENTREZ ]
RefSeq	NG_007974 [ SRS ]    NG_007974 [ ENTREZ ]
RefSeq	NT_011519 [ SRS ]    NT_011519 [ ENTREZ ]
RefSeq	NW_001838737 [ SRS ]    NW_001838737 [ ENTREZ ]
RefSeq	NW_927495 [ SRS ]    NW_927495 [ ENTREZ ]
AceView	SEPT5 AceView - NCBI
Unigene	Hs.283743 [ SRS ]    Hs.283743 [ NCBI ]     HS283743 [ spliceNest ]
Fast-db	1308 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	O95648 [ SRS]    O95648 [ EXPASY ]     O95648 [ INTERPRO ]
Interpro	IPR000038 Cell_Div_GTP_bd [ SRS ]    IPR000038 Cell_Div_GTP_bd [ EBI ]
CluSTr	O95648
Pfam	PF00735 Septin [ SRS ]    PF00735 Septin [ Sanger ]    pfam00735 [ NCBI-CDD ]
Prodom	PD002565 GTP_Cell_Div[INRA-Toulouse]
Prodom	O95648 O95648_HUMAN [ Domain structure ]   O95648 O95648_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	O95648
PDB	SEPT5 [ SRS ]    SEPT5 [ PdbSum ],   SEPT5 [ IMB ]   SEPT5 [ RSDB ]
HPRD	04100
	Protein Interaction databases
DIP	O95648
IntAct	O95648
	Polymorphism : SNP, mutations, diseases
OMIM	602724    [ map ]
GENECLINICS	602724
SNP	SEPT5 [dbSNP-NCBI]
SNP	NM_002688 [SNP-NCI]
SNP	SEPT5 [GeneSNPs - Utah]  SEPT5] [HGBASE - SRS]
HAPMAP	SEPT5 [HAPMAP]
COSMIC	SEPT5 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	SEPT5 [Translocation breakpoints In Cancer]
HGMD	SEPT5
	General knowledge
Family Browser	SEPT5 [UCSC Family Browser]
SOURCE	NM_002688
SMD	Hs.283743
SAGE	Hs.283743
GO	nucleotide binding [Amigo]  nucleotide binding
GO	cytokinesis [Amigo]  cytokinesis
GO	GTPase activity [Amigo]  GTPase activity
GO	structural molecule activity [Amigo]  structural molecule activity
GO	protein binding [Amigo]  protein binding
GO	protein binding [Amigo]  protein binding
GO	protein binding [Amigo]  protein binding
GO	GTP binding [Amigo]  GTP binding
GO	plasma membrane [Amigo]  plasma membrane
GO	plasma membrane [Amigo]  plasma membrane
GO	cell cycle [Amigo]  cell cycle
GO	synaptic vesicle [Amigo]  synaptic vesicle
GO	synaptic vesicle [Amigo]  synaptic vesicle
GO	synaptic vesicle targeting [Amigo]  synaptic vesicle targeting
GO	regulation of exocytosis [Amigo]  regulation of exocytosis
GO	regulation of exocytosis [Amigo]  regulation of exocytosis
GO	septin complex [Amigo]  septin complex
BIOCARTA	Role of Parkin in the Ubiquitin-Proteasomal Pathway    [Genes]
KEGG	Parkinson's disease
PubGene	SEPT5
TreeFam	SEPT5
CTD	5413 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SEPT5 Related clones (RZPD - Berlin)
	PubMed
PubMed	26 Pubmed reference(s) in LocusLink

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	04-2000	Jean-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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Jul 14 17:52:12 2008